Variant report

Variant	nsv947546
Chromosome Location	chr1:154935397-154943641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:568)
CpG islands
(count:488)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:154937053-154937117	K562	blood:	n/a	n/a
2	ATF2	chr1:154943159-154943900	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:154943217-154944023	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr1:154943095-154943499	K562	blood:	n/a	n/a
5	BACH1	chr1:154942479-154942657	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:154943155-154944294	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:154943268-154943434	K562	blood:	n/a	n/a
8	BATF	chr1:154943143-154943453	GM12878	blood:	n/a	chr1:154943310-154943320 chr1:154943309-154943320
9	BCL3	chr1:154943036-154943746	A549	lung:	n/a	n/a
10	BCL3	chr1:154942721-154944446	A549	lung:	n/a	n/a
11	BHLHE40	chr1:154936258-154936432	K562	blood:	n/a	n/a
12	BHLHE40	chr1:154943194-154943381	K562	blood:	n/a	n/a
13	BRCA1	chr1:154943540-154943966	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr1:154942993-154943610	K562	blood:	n/a	n/a
15	CCNT2	chr1:154941082-154941113	K562	blood:	n/a	n/a
16	CCNT2	chr1:154943082-154943632	K562	blood:	n/a	chr1:154943270-154943279
17	CEBPB	chr1:154936910-154937088	Hela-S3	cervix:	n/a	chr1:154937015-154937026
18	CEBPB	chr1:154936914-154937140	A549	lung:	n/a	chr1:154937015-154937026
19	CEBPB	chr1:154943179-154944129	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:154936814-154937171	K562	blood:	n/a	chr1:154937015-154937026
21	CEBPB	chr1:154936959-154937080	HepG2	liver:	n/a	chr1:154937015-154937026
22	CEBPB	chr1:154936890-154937168	K562	blood:	n/a	chr1:154937015-154937026
23	CEBPB	chr1:154936888-154937156	HepG2	liver:	n/a	chr1:154937015-154937026
24	CEBPB	chr1:154936874-154937167	IMR90	lung:	n/a	chr1:154937015-154937026
25	CEBPD	chr1:154936117-154936562	K562	blood:	n/a	n/a
26	CEBPD	chr1:154942909-154943544	HepG2	liver:	n/a	n/a
27	CHD1	chr1:154943636-154944450	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr1:154943364-154943559	HepG2	liver:	n/a	n/a
29	CHD2	chr1:154942976-154943216	K562	blood:	n/a	n/a
30	CHD2	chr1:154943284-154943545	GM12878	blood:	n/a	chr1:154943344-154943354
31	CHD2	chr1:154943112-154943933	H1-hESC	embryonic stem cell:	n/a	chr1:154943271-154943281 chr1:154943344-154943354
32	CHD2	chr1:154943079-154943606	Hela-S3	cervix:	n/a	chr1:154943271-154943281 chr1:154943344-154943354
33	CREB1	chr1:154943006-154944193	A549	lung:	n/a	n/a
34	CTCF	chr1:154943280-154943430	HBMEC	blood vessel:	n/a	n/a
35	E2F4	chr1:154943155-154943420	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr1:154943267-154943382	GM12878	blood:	n/a	n/a
37	ELF1	chr1:154943012-154943891	A549	lung:	n/a	n/a
38	ELF1	chr1:154942992-154943733	K562	blood:	n/a	n/a
39	ELF1	chr1:154937867-154938288	GM12878	blood:	n/a	chr1:154938110-154938123
40	ELF1	chr1:154943344-154943575	HepG2	liver:	n/a	n/a
41	ELF1	chr1:154937968-154938255	K562	blood:	n/a	chr1:154938110-154938123
42	ELK1	chr1:154943321-154943388	Hela-S3	cervix:	n/a	n/a
43	ELK1	chr1:154943021-154943199	K562	blood:	n/a	n/a
44	EP300	chr1:154943407-154943435	GM12878	blood:	n/a	n/a
45	EP300	chr1:154941251-154941666	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr1:154943098-154943197	GM12878	blood:	n/a	n/a
47	EP300	chr1:154943006-154944034	A549	lung:	n/a	chr1:154943828-154943842
48	EP300	chr1:154943002-154944229	A549	lung:	n/a	chr1:154943828-154943842 chr1:154944045-154944059
49	EP300	chr1:154941283-154941592	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr1:154936217-154936521	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154943349-154943399	GM12878	blood:	n/a
2	chr1:154942566-154942616	HEEpiC	esophagus:	n/a
3	chr1:154943349-154943399	ProgFib	skin:	n/a
4	chr1:154943349-154943399	HIPEpiC	eye:	n/a
5	chr1:154942566-154942616	HCM	heart:	n/a
6	chr1:154943349-154943399	NHBE	bronchial:	n/a
7	chr1:154943300-154943350	PFSK-1	brain:	n/a
8	chr1:154942910-154942960	GM12892	blood:	n/a
9	chr1:154943300-154943350	SK-N-SH_RA	brain:	n/a
10	chr1:154941277-154941327	Jurkat	blood:	n/a
11	chr1:154943300-154943350	PANC-1	pancreas:	n/a
12	chr1:154938871-154938921	SK-N-SH_RA	brain:	n/a
13	chr1:154941277-154941327	BJ	skin:	n/a
14	chr1:154942566-154942616	RPTEC	kidney:	n/a
15	chr1:154938439-154938489	AoSMC	blood vessel:	n/a
16	chr1:154942566-154942616	HMEC	breast:	n/a
17	chr1:154941277-154941327	SK-N-SH_RA	brain:	n/a
18	chr1:154938439-154938489	LNCaP	prostate:	n/a
19	chr1:154943300-154943350	NHBE	bronchial:	n/a
20	chr1:154938439-154938489	AG09309	skin:	n/a
21	chr1:154943300-154943350	GM12892	blood:	n/a
22	chr1:154942566-154942616	HIPEpiC	eye:	n/a
23	chr1:154942566-154942616	SAEC	small airway:	n/a
24	chr1:154942910-154942960	HUVEC	blood vessel:	n/a
25	chr1:154938439-154938489	HUVEC	blood vessel:	n/a
26	chr1:154941277-154941327	PFSK-1	brain:	n/a
27	chr1:154943349-154943399	A549	lung:	n/a
28	chr1:154938871-154938921	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:154942910-154942960	HepG2	liver:	n/a
30	chr1:154943300-154943350	HCF	heart:	n/a
31	chr1:154938439-154938489	HEK293	kidney:	embryo
32	chr1:154942910-154942960	AoSMC	blood vessel:	n/a
33	chr1:154941277-154941327	H1-hESC	embryonic stem cell:	embryo
34	chr1:154942910-154942960	NT2-D1	testis:	n/a
35	chr1:154943349-154943399	HCPEpiC	choroid plexus:	n/a
36	chr1:154942566-154942616	ovcar-3	ovarian:	n/a
37	chr1:154938439-154938489	HCT-116	colon:	n/a
38	chr1:154938439-154938489	HRCEpiC	kidney:	n/a
39	chr1:154942509-154942559	HCF	heart:	n/a
40	chr1:154943349-154943399	SK-N-SH	brain:	n/a
41	chr1:154938871-154938921	HRPEpiC	eye:	n/a
42	chr1:154943349-154943399	CMK	blood:	n/a
43	chr1:154941277-154941327	NH-A	brain:	n/a
44	chr1:154942566-154942616	Hela-S3	cervix:	n/a
45	chr1:154941277-154941327	A549	lung:	n/a
46	chr1:154943300-154943350	AG04450	lung:	fetal
47	chr1:154941277-154941327	AG04449	skin:	fetal
48	chr1:154942566-154942616	ProgFib	skin:	n/a
49	chr1:154943300-154943350	NB4	blood:	n/a
50	chr1:154943300-154943350	SK-N-SH	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154942582..154943541-chr19:13262672..13263197,2	Hela-S3	cervix:
2	chr1:154934033..154936309-chr1:155035273..155037731,2	K562	blood:
3	chr1:154931665..154935409-chr1:155055892..155060477,8	MCF-7	breast:
4	chr1:154931292..154935507-chr1:155015035..155019242,4	MCF-7	breast:
5	chr1:154942779..154946822-chr1:155099948..155103477,6	MCF-7	breast:
6	chr1:154934930..154937896-chr1:155531349..155532999,2	K562	blood:
7	chr1:154934304..154936043-chr1:155018073..155020667,2	MCF-7	breast:
8	chr1:154943143..154945562-chr1:155107346..155109732,2	MCF-7	breast:
9	chr1:154943636..154945302-chr1:155021288..155023107,2	MCF-7	breast:
10	chr1:154933652..154935727-chr1:155055132..155058797,5	MCF-7	breast:
11	chr1:154932378..154935696-chr1:155021679..155024991,3	K562	blood:
12	chr1:154943492..154949367-chr1:155033837..155038035,9	MCF-7	breast:
13	chr1:154941475..154946229-chr1:155017512..155020891,6	MCF-7	breast:
14	chr1:154932783..154935696-chr1:155023491..155025451,2	K562	blood:
15	chr1:154943624..154945730-chr1:155055730..155057498,2	MCF-7	breast:
16	chr1:154942753..154943395-chr6:7541737..7542269,2	Hela-S3	cervix:
17	chr1:154943580..154949331-chr1:155014649..155018913,6	MCF-7	breast:
18	chr1:154941423..154943081-chr1:155031851..155033563,2	K562	blood:
19	chr1:41157045..41157798-chr1:154943035..154943632,2	HCT-116	colon:
20	chr1:154932678..154935762-chr1:155021459..155026414,6	MCF-7	breast:
21	chr1:154943189..154945318-chr1:155161226..155163403,2	K562	blood:
22	chr1:154939910..154941909-chr1:155165314..155168020,2	MCF-7	breast:
23	chr1:154941816..154947838-chr1:155021873..155026372,7	K562	blood:
24	chr1:154938611..154941490-chr1:155057349..155058983,2	MCF-7	breast:
25	chr1:154529667..154532782-chr1:154942768..154945185,3	MCF-7	breast:
26	chr1:154937703..154939754-chr1:155022536..155025142,2	MCF-7	breast:
27	chr1:154934087..154936178-chr1:155049998..155052380,2	MCF-7	breast:
28	chr1:154932754..154935795-chr1:155033186..155037944,5	MCF-7	breast:
29	chr1:154942395..154943205-chr1:155023013..155023570,2	K562	blood:
30	chr1:154943294..154943807-chr20:47444419..47445129,2	Hela-S3	cervix:
31	chr1:154939878..154945720-chr1:155033369..155036154,5	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SHC1	hsa-miR-200c-3p	chr1:154936064-154936058
2	SHC1	hsa-miR-124-3p	chr1:154935848-154935842
3	SHC1	hsa-miR-124-3p	chr1:154935842-154935861
4	SHC1	hsa-miR-200b-3p	chr1:154936064-154936058
5	SHC1	hsa-miR-429	chr1:154936064-154936058

Variant related genes	Relation type
CKS1B	TF binding region
SHC1	TF binding region
MIR4258	TF binding region
PYGO2	TF binding region
CKS1B	CpG island
SHC1	CpG island
MIR4258	CpG island
PYGO2	CpG island
ENSG00000169241	chromatin interactions
ENSG00000124126	chromatin interactions
ENSG00000272145	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000160888	chromatin interactions
ENSG00000235919	chromatin interactions
ENSG00000232093	chromatin interactions
ENSG00000066136	chromatin interactions
ENSG00000116539	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000251246	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000096696	chromatin interactions
ENSG00000143590	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539391276	chr1:154935460-154935461	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs184364010	chr1:154935478-154935479	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs1050947	chr1:154935505-154935506	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs569756206	chr1:154935512-154935513	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs543369257	chr1:154935519-154935520	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs537210421	chr1:154935526-154935527	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs555593063	chr1:154935534-154935535	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs567718077	chr1:154935537-154935538	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs535097620	chr1:154935581-154935582	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs142285537	chr1:154935599-154935600	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs578063138	chr1:154935604-154935605	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs151265417	chr1:154935767-154935768	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs561548181	chr1:154935870-154935871	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs557584764	chr1:154935871-154935872	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs575757793	chr1:154935886-154935887	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs543180468	chr1:154935891-154935892	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs561303692	chr1:154935896-154935897	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs529019730	chr1:154935937-154935938	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs540719474	chr1:154935994-154935995	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs576774134	chr1:154936045-154936046	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs558973190	chr1:154936102-154936103	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs532722640	chr1:154936196-154936197	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs551274728	chr1:154936224-154936225	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs569900734	chr1:154936268-154936269	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs188123468	chr1:154936288-154936289	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs147883617	chr1:154936306-154936307	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs8191977	chr1:154936312-154936313	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200119834	chr1:154936317-154936318	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs145462928	chr1:154936318-154936319	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs11552298	chr1:154936324-154936325	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150234456	chr1:154936325-154936326	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs11552299	chr1:154936369-154936370	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs61754497	chr1:154936381-154936382	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs201315943	chr1:154936389-154936390	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs189376946	chr1:154936428-154936429	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs369189198	chr1:154936446-154936447	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181854401	chr1:154936460-154936461	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs575922097	chr1:154936481-154936482	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs147787659	chr1:154936488-154936489	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs367637881	chr1:154936489-154936490	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375232750	chr1:154936513-154936514	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373593636	chr1:154936529-154936530	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs145505934	chr1:154936556-154936557	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564848768	chr1:154936602-154936603	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs147731822	chr1:154936622-154936623	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs142622176	chr1:154936679-154936680	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs113999846	chr1:154936688-154936689	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs530416372	chr1:154936708-154936709	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs558985750	chr1:154936778-154936779	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532782499	chr1:154936784-154936785	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154932800-154935400	Active TSS	GM12878-XiMat	blood
2	chr1:154933200-154935400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:154933200-154936600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:154933600-154935400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:154933600-154935400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:154933600-154935400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:154933600-154935400	Active TSS	Fetal Kidney	kidney
8	chr1:154933600-154935400	Active TSS	Psoas Muscle	Psoas
9	chr1:154933600-154935600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:154933800-154935400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:154934600-154935400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:154934600-154935400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:154934600-154935400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:154934600-154935400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:154934600-154935400	Transcr. at gene 5' and 3'	NHLF	lung
16	chr1:154934600-154935600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:154934600-154935600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:154934600-154935600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr1:154934600-154935800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:154934600-154935800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:154934600-154936600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:154934600-154942800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:154934800-154935400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:154934800-154935400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:154934800-154935400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:154934800-154935400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr1:154934800-154935400	Flanking Active TSS	Fetal Brain Male	brain
28	chr1:154934800-154935400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
29	chr1:154934800-154935400	Flanking Active TSS	Fetal Lung	lung
30	chr1:154934800-154935400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr1:154934800-154935400	Flanking Active TSS	Fetal Stomach	stomach
32	chr1:154934800-154935400	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:154934800-154935400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:154934800-154935400	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr1:154934800-154935400	Transcr. at gene 5' and 3'	A549	lung
36	chr1:154934800-154935400	Flanking Active TSS	Dnd41	blood
37	chr1:154934800-154935600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:154934800-154935600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:154934800-154935600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:154934800-154935600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:154934800-154935600	Flanking Active TSS	Fetal Brain Female	brain
42	chr1:154934800-154935800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:154934800-154936000	Enhancers	Stomach Mucosa	stomach
44	chr1:154935000-154935400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:154935000-154935400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr1:154935000-154935400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr1:154935000-154935400	Weak transcription	Pancreas	Pancrea
48	chr1:154935000-154935400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:154935000-154935400	Enhancers	Spleen	Spleen
50	chr1:154935000-154935400	Flanking Active TSS	HepG2	liver

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