Variant report

Variant	nsv542347
Chromosome Location	chr15:34628041-34962093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6308)
CpG islands
(count:5865)
Chromatin interactive
region (count:202)
LncRNA
region (count:24)
Mature miRNA
region (count: 4)
miRNA target
sites (count:2)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:34902659-34902943	K562	blood:	n/a	n/a
2	ARID3A	chr15:34659927-34660209	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:34875226-34875237	K562	blood:	n/a	n/a
4	ARID3A	chr15:34949658-34950365	K562	blood:	n/a	n/a
5	ARID3A	chr15:34954510-34955719	K562	blood:	n/a	n/a
6	ARID3A	chr15:34948740-34948973	K562	blood:	n/a	n/a
7	ARID3A	chr15:34944080-34945342	K562	blood:	n/a	n/a
8	ARID3A	chr15:34630085-34630347	HepG2	liver:	n/a	n/a
9	ARID3A	chr15:34635077-34635629	HepG2	liver:	n/a	n/a
10	ARID3A	chr15:34781246-34781587	K562	blood:	n/a	n/a
11	ARID3A	chr15:34731584-34731600	K562	blood:	n/a	n/a
12	ARID3A	chr15:34650682-34650948	K562	blood:	n/a	n/a
13	ARID3A	chr15:34869965-34870045	HepG2	liver:	n/a	n/a
14	ARID3A	chr15:34880209-34880840	HepG2	liver:	n/a	n/a
15	ARID3A	chr15:34630317-34630551	K562	blood:	n/a	n/a
16	ARID3A	chr15:34880295-34880915	K562	blood:	n/a	n/a
17	ARID3A	chr15:34650075-34650188	K562	blood:	n/a	n/a
18	ARID3A	chr15:34905532-34905838	K562	blood:	n/a	n/a
19	ARID3A	chr15:34916436-34916602	K562	blood:	n/a	n/a
20	ARID3A	chr15:34913827-34914853	K562	blood:	n/a	chr15:34914367-34914383 chr15:34914368-34914384
21	ARID3A	chr15:34939172-34940883	K562	blood:	n/a	n/a
22	ARID3A	chr15:34886706-34886742	K562	blood:	n/a	n/a
23	ARID3A	chr15:34915270-34915290	K562	blood:	n/a	n/a
24	ARID3A	chr15:34628988-34629112	K562	blood:	n/a	n/a
25	ARID3A	chr15:34659662-34660316	K562	blood:	n/a	n/a
26	ARID3A	chr15:34952157-34952158	K562	blood:	n/a	n/a
27	ARID3A	chr15:34946314-34948129	K562	blood:	n/a	n/a
28	ARID3A	chr15:34908827-34909205	K562	blood:	n/a	n/a
29	ARID3A	chr15:34953056-34953951	K562	blood:	n/a	n/a
30	ARID3A	chr15:34929245-34929276	K562	blood:	n/a	n/a
31	ATF1	chr15:34946741-34947211	K562	blood:	n/a	n/a
32	ATF1	chr15:34880295-34880819	K562	blood:	n/a	n/a
33	ATF1	chr15:34947575-34947975	K562	blood:	n/a	n/a
34	ATF1	chr15:34940100-34940799	K562	blood:	n/a	n/a
35	ATF1	chr15:34807442-34807640	K562	blood:	n/a	n/a
36	ATF1	chr15:34936394-34936711	K562	blood:	n/a	n/a
37	ATF1	chr15:34944877-34945255	K562	blood:	n/a	n/a
38	ATF1	chr15:34635153-34635613	K562	blood:	n/a	n/a
39	ATF1	chr15:34896856-34896884	K562	blood:	n/a	n/a
40	ATF1	chr15:34870112-34870339	K562	blood:	n/a	n/a
41	ATF1	chr15:34761374-34761389	K562	blood:	n/a	n/a
42	ATF1	chr15:34633764-34633880	K562	blood:	n/a	n/a
43	ATF1	chr15:34905714-34905797	K562	blood:	n/a	n/a
44	ATF1	chr15:34949656-34950320	K562	blood:	n/a	n/a
45	ATF1	chr15:34913992-34914213	K562	blood:	n/a	n/a
46	ATF1	chr15:34908847-34909148	K562	blood:	n/a	n/a
47	ATF1	chr15:34808283-34808324	K562	blood:	n/a	n/a
48	ATF2	chr15:34635034-34635648	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr15:34942304-34942739	GM12878	blood:	n/a	n/a
50	ATF2	chr15:34662101-34662703	GM12878	blood:	n/a	n/a

(count:5865 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:34875891-34875941	HRE	kidney:	n/a
2	chr15:34806349-34806399	HEEpiC	esophagus:	n/a
3	chr15:34787920-34787970	HL-60	blood:	n/a
4	chr15:34876283-34876333	NH-A	brain:	n/a
5	chr15:34635504-34635554	NT2-D1	testis:	n/a
6	chr15:34628731-34628781	T-47D	breast:	n/a
7	chr15:34876295-34876345	GM12892	blood:	n/a
8	chr15:34788017-34788067	SAEC	small airway:	n/a
9	chr15:34785380-34785430	NB4	blood:	n/a
10	chr15:34875891-34875941	HRE	kidney:	n/a
11	chr15:34806349-34806399	HEEpiC	esophagus:	n/a
12	chr15:34787920-34787970	HL-60	blood:	n/a
13	chr15:34876283-34876333	NH-A	brain:	n/a
14	chr15:34635504-34635554	NT2-D1	testis:	n/a
15	chr15:34628731-34628781	T-47D	breast:	n/a
16	chr15:34876295-34876345	GM12892	blood:	n/a
17	chr15:34788017-34788067	SAEC	small airway:	n/a
18	chr15:34785380-34785430	NB4	blood:	n/a
19	chr15:34629953-34630003	U87	brain:	n/a
20	chr15:34637567-34637617	HCPEpiC	choroid plexus:	n/a
21	chr15:34635330-34635380	HL-60	blood:	n/a
22	chr15:34876347-34876397	NB4	blood:	n/a
23	chr15:34787920-34787970	HRPEpiC	eye:	n/a
24	chr15:34781969-34782019	ovcar-3	ovarian:	n/a
25	chr15:34660076-34660126	AG04450	lung:	fetal
26	chr15:34628769-34628819	HIPEpiC	eye:	n/a
27	chr15:34662635-34662685	T-47D	breast:	n/a
28	chr15:34630395-34630445	BJ	skin:	n/a
29	chr15:34634045-34634095	PANC-1	pancreas:	n/a
30	chr15:34628815-34628865	RPTEC	kidney:	n/a
31	chr15:34635399-34635449	U87	brain:	n/a
32	chr15:34874183-34874233	PrEC	prostate:	n/a
33	chr15:34671426-34671476	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:34630530-34630580	H1-hESC	embryonic stem cell:	embryo
35	chr15:34629727-34629777	H1-hESC	embryonic stem cell:	embryo
36	chr15:34635452-34635502	AG04449	skin:	fetal
37	chr15:34812400-34812450	NHBE	bronchial:	n/a
38	chr15:34660076-34660126	T-47D	breast:	n/a
39	chr15:34629998-34630048	RPTEC	kidney:	n/a
40	chr15:34806810-34806860	AoSMC	blood vessel:	n/a
41	chr15:34629706-34629756	PANC-1	pancreas:	n/a
42	chr15:34807143-34807193	SK-N-MC	brain:	n/a
43	chr15:34631762-34631812	HCM	heart:	n/a
44	chr15:34628815-34628865	AG04449	skin:	fetal
45	chr15:34875117-34875167	NB4	blood:	n/a
46	chr15:34660076-34660126	BJ	skin:	n/a
47	chr15:34628731-34628781	GM06990	blood:	n/a
48	chr15:34638511-34638561	PrEC	prostate:	n/a
49	chr15:34806592-34806642	HEK293	kidney:	embryo
50	chr15:34700272-34700322	ProgFib	skin:	n/a

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
2	chr15:34946410..34947955-chr15:34948303..34950980,2	K562	blood:
3	chr15:34876102..34877627-chr15:34879229..34881136,2	MCF-7	breast:
4	chr15:34790196..34793794-chr15:34794467..34797662,3	K562	blood:
5	chr15:34632776..34635331-chr15:34879472..34881728,2	K562	blood:
6	chr15:34629809..34630410-chr9:130565597..130566542,2	Hela-S3	cervix:
7	chr15:34934770..34937620-chr15:34950647..34953239,2	K562	blood:
8	chr15:34762215..34765168-chr15:34878877..34880750,2	K562	blood:
9	chr15:34790342..34793794-chr15:34793900..34797346,3	K562	blood:
10	chr15:34953489..34955951-chr15:35181219..35183157,2	K562	blood:
11	chr15:34645858..34649108-chr15:34651424..34655796,4	K562	blood:
12	chr15:34637952..34639730-chr15:34647346..34650256,2	MCF-7	breast:
13	chr15:34960754..34962321-chr15:34966390..34968165,2	K562	blood:
14	chr15:34867657..34871070-chr15:34876144..34878325,3	K562	blood:
15	chr15:34946410..34947955-chr15:34948303..34950980,2	K562	blood:
16	chr15:34518743..34520763-chr15:34876016..34878611,2	MCF-7	breast:
17	chr15:34499795..34502298-chr15:34629083..34632074,3	K562	blood:
18	chr15:34634087..34636610-chr15:34652468..34654209,2	MCF-7	breast:
19	chr15:34912716..34916752-chr15:34917196..34920581,4	K562	blood:
20	chr13:92448522..92450690-chr15:34895323..34897374,2	K562	blood:
21	chr11:62608503..62609297-chr15:34658796..34659673,3	Hela-S3	cervix:
22	chr15:34908560..34909558-chr15:35212164..35213076,4	K562	blood:
23	chr15:34960285..34962774-chr15:34963252..34966258,4	K562	blood:
24	chr15:34729318..34730097-chr5:1799590..1800354,2	Hela-S3	cervix:
25	chr15:34913307..34914991-chr15:34929235..34931577,2	K562	blood:
26	chr1:20812111..20812967-chr15:34659407..34660267,2	HCT-116	colon:
27	chr15:34628783..34632143-chr15:34633761..34637127,4	MCF-7	breast:
28	chr15:34634571..34635945-chr15:34658808..34660439,12	MCF-7	breast:
29	chr15:34635005..34635906-chr15:34659046..34660693,6	K562	blood:
30	chr15:34727667..34729400-chr15:34875206..34876777,2	K562	blood:
31	chr15:34632008..34636763-chr15:34655757..34660926,8	K562	blood:
32	chr15:34629384..34632183-chr15:34656418..34659243,3	MCF-7	breast:
33	chr15:34913751..34914597-chr15:35212096..35212867,7	K562	blood:
34	chr15:34870217..34872096-chr15:35279333..35281998,2	K562	blood:
35	chr15:34631461..34634427-chr15:34658346..34660565,2	K562	blood:
36	chr15:34875762..34878300-chr15:34879087..34881803,6	K562	blood:
37	chr15:34934825..34936603-chr15:34945044..34948146,4	K562	blood:
38	chr15:34727095..34731466-chr15:34878887..34881950,4	K562	blood:
39	chr15:34770080..34772217-chr15:34772786..34775252,2	K562	blood:
40	chr15:34637138..34639879-chr15:34649116..34651310,2	K562	blood:
41	chr15:34720616..34722466-chr15:34725764..34728714,2	K562	blood:
42	chr15:34330963..34332496-chr15:34876229..34877827,2	K562	blood:
43	chr15:34769198..34772919-chr15:34774454..34777192,3	K562	blood:
44	chr15:34516899..34519877-chr15:34627913..34631706,5	K562	blood:
45	chr15:34726561..34729987-chr15:34871215..34874723,3	K562	blood:
46	chr15:34913918..34914531-chr15:35212584..35213285,2	MCF-7	breast:
47	chr15:34632776..34635331-chr15:34879472..34881728,2	K562	blood:
48	chr15:34642775..34644501-chr15:34648793..34650495,2	K562	blood:
49	chr15:34898803..34900649-chr15:34905656..34908079,2	K562	blood:
50	chr15:34642775..34644501-chr15:34648793..34650495,2	K562	blood:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA8A-1	chr15:34943885-34943977	ENSG00000261304.1
2	lnc-LPCAT4-1	chr15:34698878-34699071	NONHSAT041586
3	lnc-GJD2-3	chr15:34858091-34858674	NONHSAT041597
4	lnc-C15orf55-4	chr15:34752685-34752950	uc_384_+
5	lnc-GJD2-4	chr15:34873667-34873700	NONHSAT140232
6	lnc-GOLGA8A-1	chr15:34947820-34947978	XLOC_011421
7	lnc-LPCAT4-1	chr15:34720816-34721126	NONHSAT041586
8	lnc-LPCAT4-1	chr15:34699777-34699936	NONHSAT041586
9	lnc-GJD2-4	chr15:34845946-34846157	NONHSAT041596
10	lnc-C15orf55-1	chr15:34628609-34630155	NONHSAT041578
11	lnc-GJD2-4	chr15:34845174-34845292	NONHSAT041596
12	lnc-C15orf55-1	chr15:34632408-34632569	NONHSAT041578
13	lnc-GOLGA8B-1	chr15:34752685-34752950	uc_384_-
14	lnc-GOLGA8A-1	chr15:34943936-34946139	ucscGeneNc_uc001zji_1
15	lnc-GOLGA8A-1	chr15:34948237-34948332	ucscGeneNc_uc001zji_1
16	lnc-GOLGA8A-1	chr15:34947820-34947965	ENSG00000261304.1
17	lnc-GOLGA8A-1	chr15:34943336-34943463	ENSG00000261304.1
18	lnc-GJD2-4	chr15:34845096-34845292	NONHSAT140232
19	lnc-GJD2-4	chr15:34843392-34843477	NONHSAT140232
20	lnc-GJD2-3	chr15:34874951-34875061	NONHSAT041597
21	lnc-GOLGA8A-1	chr15:34946499-34946618	ENSG00000261304.1
22	lnc-GJD2-4	chr15:34875717-34875835	NONHSAT041596
23	lnc-GJD2-4	chr15:34867026-34867115	NONHSAT041596
24	lnc-GJD2-4	chr15:34845946-34846157	NONHSAT140232

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1233-3p	chr15:34674270-34674289	MIMAT0005588
hsa-miR-1233-5p	chr15:34820548-34820569	MIMAT0022943_1
hsa-miR-1233-3p	chr15:34820491-34820510	MIMAT0005588_1
hsa-miR-1233-5p	chr15:34674327-34674348	MIMAT0022943

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GOLGA8B	hsa-miR-15a-5p	chr15:34817527-34817548
2	GOLGA8B	hsa-miR-32-5p	chr15:34818291-34818311

Variant related genes	Relation type
NUTM1	TF binding region
ENSG00000261304	TF binding region
SLC12A6	TF binding region
MIR1233-2	TF binding region
ENSG00000259892	TF binding region
ENSG00000259904	TF binding region
GOLGA8A	TF binding region
NOP10	TF binding region
ENSG00000252425	TF binding region
ENSG00000266205	TF binding region
MIR1233-1	TF binding region
LPCAT4	TF binding region
ENSG00000261081	TF binding region
ENSG00000261559	TF binding region
ENSG00000260639	TF binding region
HNRNPLP2	TF binding region
GOLGA8B	TF binding region
NUTM1	CpG island
ENSG00000261304	CpG island
SLC12A6	CpG island
MIR1233-2	CpG island
ENSG00000259892	CpG island
ENSG00000259904	CpG island
GOLGA8A	CpG island
NOP10	CpG island
ENSG00000252425	CpG island
ENSG00000266205	CpG island
MIR1233-1	CpG island
LPCAT4	CpG island
ENSG00000261081	CpG island
ENSG00000261559	CpG island
ENSG00000260639	CpG island
HNRNPLP2	CpG island
GOLGA8B	CpG island
ENSG00000100558	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000198146	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000162545	chromatin interactions
ENSG00000248668	chromatin interactions
ENSG00000215252	chromatin interactions
ENSG00000176454	chromatin interactions
ENSG00000261304	chromatin interactions
ENSG00000182405	chromatin interactions
ENSG00000134153	chromatin interactions
ENSG00000188483	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000013306	chromatin interactions
ENSG00000175265	chromatin interactions
ENSG00000259917	chromatin interactions
ENSG00000184507	chromatin interactions
ENSG00000126698	chromatin interactions
ENSG00000182117	chromatin interactions
ENSG00000128463	chromatin interactions
ENSG00000259904	chromatin interactions
ENSG00000134152	chromatin interactions
ENSG00000266205	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000140199	chromatin interactions
ENSG00000164941	chromatin interactions
ENSG00000169857	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000133316	chromatin interactions
NEK7	miRNA target sites

Extended variants
information (count: 10269 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:10269 , 50 per page) page: 1 2 3 4 5 6 7 ... 206

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118068248	chr15:34628101-34628102	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538540823	chr15:34628119-34628120	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574993266	chr15:34628139-34628140	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568509339	chr15:34628142-34628143	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535942474	chr15:34628182-34628183	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144147484	chr15:34628271-34628272	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572978621	chr15:34628278-34628279	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540571161	chr15:34628307-34628308	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540022617	chr15:34628319-34628320	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2615351	chr15:34628322-34628323	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574237082	chr15:34628340-34628341	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576681513	chr15:34628348-34628349	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544139641	chr15:34628354-34628355	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562139665	chr15:34628488-34628489	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs75634510	chr15:34628548-34628549	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs347836	chr15:34628570-34628571	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs369480329	chr15:34628573-34628574	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371256174	chr15:34628587-34628588	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541890423	chr15:34628591-34628592	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs180871525	chr15:34628592-34628593	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200723560	chr15:34628596-34628597	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs200288608	chr15:34628623-34628624	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs201684992	chr15:34628642-34628643	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs369793136	chr15:34628652-34628653	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs373526599	chr15:34628661-34628662	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs201704500	chr15:34628662-34628663	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs200556194	chr15:34628683-34628684	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs530537247	chr15:34628696-34628697	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs376921827	chr15:34628715-34628716	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs373655012	chr15:34628732-34628733	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs376341003	chr15:34628780-34628781	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs370810168	chr15:34628792-34628793	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs372512711	chr15:34628808-34628809	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs571064840	chr15:34628819-34628820	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs377072265	chr15:34628850-34628851	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs532035592	chr15:34628859-34628860	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs146902000	chr15:34628861-34628862	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs371200689	chr15:34628895-34628896	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs199856572	chr15:34628908-34628909	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs139280382	chr15:34628914-34628915	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs535516075	chr15:34628938-34628939	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs540395860	chr15:34629023-34629024	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs73374490	chr15:34629024-34629025	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs368810991	chr15:34629037-34629038	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs186569088	chr15:34629049-34629050	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs539928089	chr15:34629060-34629061	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs73374491	chr15:34629096-34629097	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs71464858	chr15:34629114-34629115	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs576671324	chr15:34629121-34629122	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs544077917	chr15:34629138-34629139	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4808 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34611000-34628600	Weak transcription	Lung	lung
2	chr15:34611200-34629200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:34614600-34628600	Weak transcription	Psoas Muscle	Psoas
4	chr15:34616200-34628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:34619800-34628600	Weak transcription	Pancreas	Pancrea
6	chr15:34621000-34628200	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:34622200-34628600	Weak transcription	Placenta	Placenta
8	chr15:34623600-34629800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:34624400-34629200	Weak transcription	Fetal Intestine Large	intestine
10	chr15:34625400-34628400	Active TSS	GM12878-XiMat	blood
11	chr15:34625600-34629000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr15:34625600-34629200	Enhancers	Fetal Heart	heart
13	chr15:34625600-34629600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr15:34625800-34629000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr15:34625800-34630000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr15:34626200-34628200	Flanking Active TSS	HUVEC	blood vessel
17	chr15:34626200-34629200	Enhancers	K562	blood
18	chr15:34626400-34628400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr15:34626400-34628600	Active TSS	Thymus	Thymus
20	chr15:34626400-34629000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:34626400-34629000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr15:34626400-34629200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr15:34626400-34629200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:34626400-34629400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:34626400-34629800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr15:34626400-34630400	Active TSS	Rectal Smooth Muscle	rectum
27	chr15:34626400-34630600	Active TSS	Aorta	Aorta
28	chr15:34626600-34628400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:34626600-34628600	Active TSS	Primary B cells from peripheral blood	blood
30	chr15:34626600-34629200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:34626800-34628200	Flanking Active TSS	Osteobl	bone
32	chr15:34626800-34629400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:34626800-34629400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:34627000-34629200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:34627000-34629200	Enhancers	NH-A	brain
36	chr15:34627000-34629600	Flanking Active TSS	Dnd41	blood
37	chr15:34627200-34628200	Enhancers	Stomach Mucosa	stomach
38	chr15:34627400-34628200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:34627400-34629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:34627400-34629200	Enhancers	HepG2	liver
41	chr15:34627600-34628200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr15:34627600-34628200	Flanking Active TSS	Hela-S3	cervix
43	chr15:34627600-34628400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr15:34627600-34628600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:34627600-34628800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:34627600-34628800	Flanking Active TSS	Fetal Brain Female	brain
47	chr15:34627600-34629000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr15:34627600-34629000	Enhancers	NHLF	lung
49	chr15:34627600-34629200	Enhancers	NHDF-Ad	bronchial
50	chr15:34627600-34629400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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