Variant report

Variant	esv3423516
Chromosome Location	chr3:136469287-136472135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1136)
CpG islands
(count:489)
Chromatin interactive
region (count:45)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:136469214-136470334	K562	blood:	n/a	n/a
2	ARID3A	chr3:136469160-136469611	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:136471156-136472035	K562	blood:	n/a	chr3:136471395-136471403
4	ARID3A	chr3:136470012-136470555	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:136471085-136472122	HepG2	liver:	n/a	chr3:136471395-136471403
6	ATF1	chr3:136471166-136472105	K562	blood:	n/a	n/a
7	ATF2	chr3:136470994-136472378	GM12878	blood:	n/a	n/a
8	ATF2	chr3:136470948-136471524	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr3:136471110-136472276	GM12878	blood:	n/a	n/a
10	ATF2	chr3:136470998-136471826	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:136471151-136471860	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr3:136471643-136472118	A549	lung:	n/a	n/a
13	BCL3	chr3:136471010-136471475	A549	lung:	n/a	chr3:136471407-136471420 chr3:136471333-136471346 chr3:136471383-136471396
14	BCLAF1	chr3:136469738-136470649	GM12878	blood:	n/a	chr3:136470538-136470547
15	BCLAF1	chr3:136470804-136472384	GM12878	blood:	n/a	chr3:136471407-136471420 chr3:136471513-136471526 chr3:136471333-136471346 chr3:136471383-136471396 chr3:136471488-136471496
16	BCLAF1	chr3:136470998-136472375	GM12878	blood:	n/a	chr3:136471407-136471420 chr3:136471513-136471526 chr3:136471333-136471346 chr3:136471383-136471396 chr3:136471488-136471496
17	BHLHE40	chr3:136470194-136472206	GM12878	blood:	n/a	chr3:136471378-136471394 chr3:136471678-136471694 chr3:136470370-136470386
18	BHLHE40	chr3:136470944-136472061	HepG2	liver:	n/a	chr3:136471378-136471394 chr3:136471678-136471694
19	BHLHE40	chr3:136470116-136472342	K562	blood:	n/a	chr3:136471378-136471394 chr3:136471678-136471694 chr3:136470370-136470386
20	BHLHE40	chr3:136470123-136470573	HepG2	liver:	n/a	chr3:136470370-136470386
21	BRCA1	chr3:136471079-136472377	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr3:136470162-136470337	HepG2	liver:	n/a	n/a
23	BRCA1	chr3:136471037-136471914	HepG2	liver:	n/a	n/a
24	BRCA1	chr3:136471146-136471641	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr3:136471161-136471846	GM12878	blood:	n/a	n/a
26	CBX3	chr3:136469910-136470492	K562	blood:	n/a	n/a
27	CBX3	chr3:136471044-136472161	K562	blood:	n/a	n/a
28	CBX3	chr3:136470026-136470433	K562	blood:	n/a	n/a
29	CCNT2	chr3:136470293-136472067	K562	blood:	n/a	chr3:136471423-136471432
30	CEBPB	chr3:136470156-136470433	K562	blood:	n/a	n/a
31	CEBPB	chr3:136471148-136471365	K562	blood:	n/a	n/a
32	CEBPB	chr3:136471053-136472195	Hela-S3	cervix:	n/a	chr3:136471455-136471463
33	CEBPB	chr3:136470223-136470610	HepG2	liver:	n/a	n/a
34	CEBPB	chr3:136471515-136472364	GM12878	blood:	n/a	n/a
35	CEBPB	chr3:136471109-136472015	H1-hESC	embryonic stem cell:	n/a	chr3:136471455-136471463
36	CEBPB	chr3:136471028-136471945	HepG2	liver:	n/a	chr3:136471455-136471463
37	CEBPB	chr3:136471030-136471504	HepG2	liver:	n/a	chr3:136471455-136471463
38	CEBPD	chr3:136470264-136471834	HepG2	liver:	n/a	n/a
39	CEBPD	chr3:136470907-136471323	HepG2	liver:	n/a	n/a
40	CHD1	chr3:136469767-136470386	H1-hESC	embryonic stem cell:	n/a	chr3:136470257-136470267
41	CHD1	chr3:136471070-136472410	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr3:136468843-136472737	IMR90	lung:	n/a	chr3:136470257-136470267
43	CHD1	chr3:136468963-136472242	GM12878	blood:	n/a	chr3:136470257-136470267
44	CHD2	chr3:136470230-136470488	HepG2	liver:	n/a	chr3:136470257-136470267
45	CHD2	chr3:136470063-136470555	GM12878	blood:	n/a	chr3:136470257-136470267
46	CHD2	chr3:136470063-136472169	Hela-S3	cervix:	n/a	chr3:136470257-136470267
47	CHD2	chr3:136470800-136472196	GM12878	blood:	n/a	n/a
48	CHD2	chr3:136470746-136472387	K562	blood:	n/a	n/a
49	CHD2	chr3:136471026-136471920	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr3:136470988-136472117	HepG2	liver:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:136471803-136471853	AG09319	gingival:	n/a
2	chr3:136471803-136471853	AG09319	gingival:	n/a
3	chr3:136471577-136471627	HRPEpiC	eye:	n/a
4	chr3:136470434-136470484	CMK	blood:	n/a
5	chr3:136471562-136471612	HMEC	breast:	n/a
6	chr3:136471562-136471612	BJ	skin:	n/a
7	chr3:136471127-136471177	Hela-S3	cervix:	n/a
8	chr3:136471376-136471426	BJ	skin:	n/a
9	chr3:136471376-136471426	LNCaP	prostate:	n/a
10	chr3:136471634-136471684	NT2-D1	testis:	n/a
11	chr3:136471634-136471684	HNPCEpiC	eye:	n/a
12	chr3:136471162-136471212	AG10803	skin:	n/a
13	chr3:136471162-136471212	NHBE	bronchial:	n/a
14	chr3:136471376-136471426	NHBE	bronchial:	n/a
15	chr3:136471562-136471612	SKMC	muscle:	n/a
16	chr3:136470434-136470484	SK-N-MC	brain:	n/a
17	chr3:136471577-136471627	SK-N-SH_RA	brain:	n/a
18	chr3:136471562-136471612	PFSK-1	brain:	n/a
19	chr3:136471803-136471853	NB4	blood:	n/a
20	chr3:136471562-136471612	T-47D	breast:	n/a
21	chr3:136471577-136471627	BE2_C	brain:	n/a
22	chr3:136471562-136471612	HCT-116	colon:	n/a
23	chr3:136471376-136471426	HEK293	kidney:	embryo
24	chr3:136471127-136471177	HRPEpiC	eye:	n/a
25	chr3:136471577-136471627	RPTEC	kidney:	n/a
26	chr3:136471127-136471177	ProgFib	skin:	n/a
27	chr3:136471803-136471853	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:136471562-136471612	MCF10A-Er-Src	breast:	n/a
29	chr3:136471803-136471853	U87	brain:	n/a
30	chr3:136471562-136471612	AG09309	skin:	n/a
31	chr3:136471562-136471612	GM19239	blood:	n/a
32	chr3:136471376-136471426	HL-60	blood:	n/a
33	chr3:136471162-136471212	SK-N-SH_RA	brain:	n/a
34	chr3:136471376-136471426	U87	brain:	n/a
35	chr3:136471634-136471684	GM12878	blood:	n/a
36	chr3:136471127-136471177	ECC-1	luminal epithelium:	n/a
37	chr3:136471127-136471177	HepG2	liver:	n/a
38	chr3:136471577-136471627	IMR90	lung:	fetal
39	chr3:136471376-136471426	AG09319	gingival:	n/a
40	chr3:136470434-136470484	HIPEpiC	eye:	n/a
41	chr3:136471803-136471853	A549	lung:	n/a
42	chr3:136471127-136471177	BJ	skin:	n/a
43	chr3:136471376-136471426	AG04449	skin:	fetal
44	chr3:136471127-136471177	H1-hESC	embryonic stem cell:	embryo
45	chr3:136471634-136471684	HEEpiC	esophagus:	n/a
46	chr3:136471376-136471426	AG04450	lung:	fetal
47	chr3:136471127-136471177	NH-A	brain:	n/a
48	chr3:136471577-136471627	HRE	kidney:	n/a
49	chr3:136471162-136471212	GM12892	blood:	n/a
50	chr3:136471577-136471627	HUVEC	blood vessel:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147806325..147807312-chr3:136470105..136471009,2	Hela-S3	cervix:
2	chr3:133969194..133969719-chr3:136470769..136471350,2	Hela-S3	cervix:
3	chr3:136468701..136475672-chr3:136535815..136540749,9	K562	blood:
4	chr3:136469311..136474326-chr3:136579207..136583133,7	K562	blood:
5	chr11:355696..356315-chr3:136468945..136469445,2	Hela-S3	cervix:
6	chr3:136233567..136235148-chr3:136468458..136469958,2	K562	blood:
7	chr3:135912902..135916874-chr3:136469598..136473232,8	MCF-7	breast:
8	chr3:136447967..136449476-chr3:136469163..136470945,2	MCF-7	breast:
9	chr3:136470318..136472005-chr3:161088059..161090755,2	MCF-7	breast:
10	chr3:136470133..136470947-chrX:41193764..41194501,2	Hela-S3	cervix:
11	chr3:136453394..136456450-chr3:136469548..136472199,3	K562	blood:
12	chr3:136466613..136474326-chr3:136579481..136583133,10	K562	blood:
13	chr3:136471501..136472073-chr7:6143796..6144617,2	Hela-S3	cervix:
14	chr3:136208388..136211090-chr3:136467197..136470066,2	K562	blood:
15	chr18:3261283..3261810-chr3:136470449..136471088,2	Hela-S3	cervix:
16	chr3:136277326..136280102-chr3:136471685..136473348,2	MCF-7	breast:
17	chr3:136389263..136391478-chr3:136467252..136469430,2	K562	blood:
18	chr3:135968756..135970580-chr3:136469634..136471998,2	K562	blood:
19	chr3:136470856..136471380-chr6:90539532..90540065,2	Hela-S3	cervix:
20	chr2:101179491..101180092-chr3:136470165..136470710,2	Hela-S3	cervix:
21	chr11:62609047..62610004-chr3:136469655..136471390,4	Hela-S3	cervix:
22	chr3:136261604..136263396-chr3:136467886..136469461,2	K562	blood:
23	chr1:28832529..28833084-chr3:136470773..136471712,2	HCT-116	colon:
24	chr3:136334079..136336516-chr3:136469054..136471144,3	MCF-7	breast:
25	chr3:136471389..136473293-chr3:136580852..136582413,2	MCF-7	breast:
26	chr1:153747489..153748173-chr3:136470178..136470949,2	Hela-S3	cervix:
27	chr3:135914989..135917015-chr3:136470237..136472481,3	K562	blood:
28	chr3:136469358..136473351-chr3:136579831..136582888,9	MCF-7	breast:
29	chr3:135912817..135916962-chr3:136469681..136473212,8	K562	blood:
30	chr3:136468701..136470951-chr3:136535903..136538830,3	K562	blood:
31	chr12:7053185..7053691-chr3:136471368..136471965,2	Hela-S3	cervix:
32	chr1:37940031..37940548-chr3:136471240..136471770,2	Hela-S3	cervix:
33	chr3:136350170..136353597-chr3:136468835..136472616,3	MCF-7	breast:
34	chr3:101567901..101568689-chr3:136470284..136471127,2	Hela-S3	cervix:
35	chr19:12901783..12902716-chr3:136470756..136471316,2	Hela-S3	cervix:
36	chr3:136470105..136470853-chr3:195269618..195270475,2	Hela-S3	cervix:
37	chr3:136471576..136472305-chr3:136732784..136733377,2	MCF-7	breast:
38	chr3:135969104..135971090-chr3:136470031..136473091,3	MCF-7	breast:
39	chr3:136470431..136471115-chr5:53606331..53606920,2	Hela-S3	cervix:
40	chr3:136444891..136447189-chr3:136467226..136469420,2	K562	blood:
41	chr3:135967505..135970256-chr3:136469769..136472442,3	K562	blood:
42	chr3:136460807..136463236-chr3:136469569..136471141,2	MCF-7	breast:
43	chr3:135968107..135969967-chr3:136470513..136472370,2	MCF-7	breast:
44	chr3:136471382..136472078-chr9:98079172..98080015,2	HCT-116	colon:
45	chr3:136470410..136471092-chr7:32996883..32997834,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM22-1	chr3:136471472-136474622	ENSG00000261758.1

No data

Variant related genes	Relation type
ENSG00000261758	TF binding region
STAG1	TF binding region
ENSG00000261758	CpG island
STAG1	CpG island
ENSG00000202408	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000118412	chromatin interactions
ENSG00000239213	chromatin interactions
ENSG00000158092	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000240695	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000185305	chromatin interactions
ENSG00000168917	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000114054	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000251708	chromatin interactions
ENSG00000163785	chromatin interactions
ENSG00000184203	chromatin interactions
ENSG00000163874	chromatin interactions
ENSG00000143554	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000122642	chromatin interactions
ENSG00000174579	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573167516	chr3:136469387-136469388	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs34096288	chr3:136469390-136469391	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs530598963	chr3:136469393-136469394	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs375608486	chr3:136469395-136469396	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs569879579	chr3:136469426-136469427	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs77618353	chr3:136469485-136469486	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs144596428	chr3:136469500-136469501	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs186628849	chr3:136469535-136469536	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566039271	chr3:136469551-136469552	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs534599064	chr3:136469602-136469603	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs554318327	chr3:136469614-136469615	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs574456226	chr3:136469644-136469645	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs368320188	chr3:136469667-136469668	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs536782071	chr3:136469683-136469684	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs192518985	chr3:136469717-136469718	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs577085494	chr3:136469777-136469778	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs72981316	chr3:136469819-136469820	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561728815	chr3:136469833-136469834	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs368638074	chr3:136469836-136469837	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs559646081	chr3:136469852-136469853	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs112993984	chr3:136469993-136469994	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs573096106	chr3:136470001-136470002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs35874192	chr3:136470004-136470005	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs111958791	chr3:136470027-136470028	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs561159345	chr3:136470028-136470029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs539146504	chr3:136470105-136470106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs530120295	chr3:136470140-136470141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs543481401	chr3:136470149-136470150	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs146674167	chr3:136470178-136470179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs550788599	chr3:136470193-136470194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs552392248	chr3:136470198-136470199	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs141424874	chr3:136470202-136470203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs528813054	chr3:136470239-136470240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs548156349	chr3:136470269-136470270	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs567931022	chr3:136470270-136470271	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs537074222	chr3:136470281-136470282	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs550789498	chr3:136470306-136470307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs61790842	chr3:136470317-136470318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371831067	chr3:136470339-136470340	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs368891023	chr3:136470373-136470374	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs111580590	chr3:136470425-136470426	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs111246807	chr3:136470443-136470444	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs184895078	chr3:136470515-136470516	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs573077143	chr3:136470585-136470586	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs541723610	chr3:136470587-136470588	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs555654821	chr3:136470597-136470598	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs574694133	chr3:136470641-136470642	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs373857018	chr3:136470651-136470652	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs543419772	chr3:136470653-136470654	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs563430407	chr3:136470655-136470656	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136449000-136470000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:136454200-136470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:136457400-136470000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:136458400-136470000	Weak transcription	Esophagus	oesophagus
5	chr3:136465800-136470000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:136467800-136469600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:136468000-136469800	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:136468000-136470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:136468200-136473000	Active TSS	A549	lung
10	chr3:136468400-136470000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:136468400-136470000	Weak transcription	Pancreas	Pancrea
12	chr3:136468400-136470000	Weak transcription	Stomach Mucosa	stomach
13	chr3:136468400-136470200	Weak transcription	Gastric	stomach
14	chr3:136468400-136472000	Active TSS	NHDF-Ad	bronchial
15	chr3:136468400-136472200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:136468400-136472200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:136468400-136472600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:136468600-136469400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:136468600-136469800	Flanking Active TSS	HUVEC	blood vessel
20	chr3:136468600-136469800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:136468600-136470000	Weak transcription	Lung	lung
22	chr3:136468600-136470400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr3:136468600-136471400	Active TSS	Right Atrium	heart
24	chr3:136468600-136472200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr3:136468800-136469400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr3:136468800-136469400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr3:136468800-136469600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:136468800-136469600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:136468800-136469800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:136468800-136469800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:136468800-136469800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:136468800-136469800	Flanking Active TSS	Dnd41	blood
33	chr3:136468800-136470000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr3:136468800-136470200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr3:136468800-136470400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:136468800-136472000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:136468800-136472000	Active TSS	HMEC	breast
38	chr3:136468800-136472200	Active TSS	GM12878-XiMat	blood
39	chr3:136469000-136469400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:136469000-136469400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:136469000-136469400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr3:136469000-136469400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr3:136469000-136469400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:136469000-136469400	Flanking Active TSS	Liver	Liver
45	chr3:136469000-136469400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr3:136469000-136469400	Flanking Active TSS	Fetal Brain Female	brain
47	chr3:136469000-136469400	Flanking Active TSS	Fetal Lung	lung
48	chr3:136469000-136469400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr3:136469000-136469400	Flanking Active TSS	Fetal Stomach	stomach
50	chr3:136469000-136469400	Flanking Active TSS	Fetal Thymus	thymus

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