Variant report

Variant	esv3429463
Chromosome Location	chr6:29764673-29767271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:29764856-29765271	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:29765080-29765230	RPTEC	kidney:	n/a	n/a
3	E2F4	chr6:29764847-29765445	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:29764905-29765219	Hela-S3	cervix:	n/a	n/a
5	FOS	chr6:29764566-29765479	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:29764833-29765396	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:29764602-29765459	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:29764624-29765292	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL1	chr6:29764773-29765365	HCT-116	colon:	n/a	n/a
10	GTF2F1	chr6:29764868-29765271	Hela-S3	cervix:	n/a	n/a
11	MAFF	chr6:29764913-29765126	HepG2	liver:	n/a	chr6:29765033-29765051
12	MAFK	chr6:29764926-29765184	HepG2	liver:	n/a	chr6:29765035-29765050
13	MAFK	chr6:29764900-29765183	IMR90	lung:	n/a	chr6:29765035-29765050
14	MAFK	chr6:29764904-29765223	Hela-S3	cervix:	n/a	chr6:29765035-29765050
15	MAFK	chr6:29764916-29765116	HepG2	liver:	n/a	chr6:29765035-29765050
16	MAX	chr6:29764965-29765409	Hela-S3	cervix:	n/a	n/a
17	MYC	chr6:29764922-29765277	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr6:29764850-29765434	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:29766632-29766749	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:29766114-29766275	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:29764905-29765031	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:29765780-29765860	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:29765025-29765525	MCF10A-Er-Src	breast:	n/a	n/a
24	RFX5	chr6:29765012-29765146	Hela-S3	cervix:	n/a	n/a
25	SETDB1	chr6:29765012-29765485	U2OS	brain:	n/a	n/a
26	SMC3	chr6:29764919-29765204	Hela-S3	cervix:	n/a	n/a
27	STAT3	chr6:29764727-29765522	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr6:29764807-29765196	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:29764741-29765296	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr6:29764733-29765461	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:29764808-29765514	MCF10A-Er-Src	breast:	n/a	n/a
32	TBP	chr6:29764996-29765253	Hela-S3	cervix:	n/a	n/a
33	USF2	chr6:29765006-29765406	Hela-S3	cervix:	n/a	chr6:29765170-29765181
34	ZKSCAN1	chr6:29765020-29765406	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29766061-29766111	SAEC	small airway:	n/a
2	chr6:29766061-29766111	A549	lung:	n/a
3	chr6:29766061-29766111	NHDF-neo	bronchial:	n/a
4	chr6:29765324-29765374	AG09309	skin:	n/a
5	chr6:29765324-29765374	U87	brain:	n/a
6	chr6:29765324-29765374	BE2_C	brain:	n/a
7	chr6:29765324-29765374	SAEC	small airway:	n/a
8	chr6:29765324-29765374	H1-hESC	embryonic stem cell:	embryo
9	chr6:29766061-29766111	AG09319	gingival:	n/a
10	chr6:29765324-29765374	SKMC	muscle:	n/a
11	chr6:29765324-29765374	PrEC	prostate:	n/a
12	chr6:29765324-29765374	PFSK-1	brain:	n/a
13	chr6:29766061-29766111	HRE	kidney:	n/a
14	chr6:29766061-29766111	H1-hESC	embryonic stem cell:	embryo
15	chr6:29765324-29765374	SK-N-MC	brain:	n/a
16	chr6:29766061-29766111	HNPCEpiC	eye:	n/a
17	chr6:29765324-29765374	HepG2	liver:	n/a
18	chr6:29765324-29765374	AG10803	skin:	n/a
19	chr6:29765324-29765374	HEK293	kidney:	embryo
20	chr6:29766061-29766111	AG04450	lung:	fetal
21	chr6:29766061-29766111	SK-N-MC	brain:	n/a
22	chr6:29765324-29765374	ovcar-3	ovarian:	n/a
23	chr6:29766061-29766111	HIPEpiC	eye:	n/a
24	chr6:29765324-29765374	NB4	blood:	n/a
25	chr6:29766061-29766111	AoSMC	blood vessel:	n/a
26	chr6:29765324-29765374	HRCEpiC	kidney:	n/a
27	chr6:29765324-29765374	HCPEpiC	choroid plexus:	n/a
28	chr6:29765324-29765374	A549	lung:	n/a
29	chr6:29765324-29765374	LNCaP	prostate:	n/a
30	chr6:29765324-29765374	T-47D	breast:	n/a
31	chr6:29766061-29766111	HEK293	kidney:	embryo
32	chr6:29765324-29765374	Jurkat	blood:	n/a
33	chr6:29766061-29766111	HL-60	blood:	n/a
34	chr6:29766061-29766111	T-47D	breast:	n/a
35	chr6:29765324-29765374	NH-A	brain:	n/a
36	chr6:29766061-29766111	GM12878	blood:	n/a
37	chr6:29765324-29765374	SK-N-SH_RA	brain:	n/a
38	chr6:29765324-29765374	MCF10A-Er-Src	breast:	n/a
39	chr6:29765324-29765374	GM12891	blood:	n/a
40	chr6:29766061-29766111	ovcar-3	ovarian:	n/a
41	chr6:29765324-29765374	Caco-2	colon:	n/a
42	chr6:29765324-29765374	AG09319	gingival:	n/a
43	chr6:29765324-29765374	AG04449	skin:	fetal
44	chr6:29766061-29766111	PrEC	prostate:	n/a
45	chr6:29765324-29765374	SK-N-SH	brain:	n/a
46	chr6:29766061-29766111	NB4	blood:	n/a
47	chr6:29765324-29765374	GM12878	blood:	n/a
48	chr6:29766061-29766111	HEEpiC	esophagus:	n/a
49	chr6:29766061-29766111	HCM	heart:	n/a
50	chr6:29766061-29766111	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:29764068..29767781-chr6:29769569..29773130,4	K562	blood:
2	chr6:29764926..29767618-chr6:29920990..29923179,3	MCF-7	breast:
3	chr6:29760049..29761986-chr6:29763646..29765387,2	K562	blood:
4	chr6:29763208..29764709-chr6:29776682..29778485,2	MCF-7	breast:
5	chr6:29762168..29764765-chr6:29782319..29784097,2	K562	blood:

No data

Variant related genes	Relation type
HCG4	TF binding region
HLA-P	TF binding region
HCG4	CpG island
HLA-P	CpG island
ENSG00000213880	chromatin interactions
ENSG00000176998	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114974700	chr6:29764674-29764675	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs182443579	chr6:29764680-29764681	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs567454009	chr6:29764706-29764707	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs11751282	chr6:29764707-29764708	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554536416	chr6:29764724-29764725	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs1633003	chr6:29764759-29764760	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370244978	chr6:29764780-29764781	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs376963347	chr6:29764781-29764782	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs199870582	chr6:29764788-29764789	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs116330963	chr6:29764803-29764804	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs538371680	chr6:29764835-29764836	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs200904789	chr6:29764867-29764868	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs201677549	chr6:29764871-29764872	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs199890514	chr6:29764873-29764874	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs201189719	chr6:29764902-29764903	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs557912877	chr6:29764910-29764911	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs571547442	chr6:29764933-29764934	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs114286588	chr6:29764938-29764939	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs116830057	chr6:29764939-29764940	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs201031704	chr6:29764955-29764956	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs537339602	chr6:29764966-29764967	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs114384197	chr6:29764968-29764969	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs73403743	chr6:29764971-29764972	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs115323178	chr6:29764978-29764979	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200449506	chr6:29764995-29764996	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs201620663	chr6:29764996-29764997	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs73747518	chr6:29764998-29764999	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1630969	chr6:29765001-29765002	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs9468622	chr6:29765003-29765004	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559269476	chr6:29765013-29765014	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs374688218	chr6:29765019-29765020	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs9468623	chr6:29765020-29765021	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1633002	chr6:29765047-29765048	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs75904618	chr6:29765055-29765056	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs75220593	chr6:29765061-29765062	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs201094801	chr6:29765077-29765078	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs368324812	chr6:29765078-29765079	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs575350796	chr6:29765082-29765083	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2523414	chr6:29765087-29765088	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561205088	chr6:29765117-29765118	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369430766	chr6:29765120-29765121	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs146761539	chr6:29765123-29765124	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs372101546	chr6:29765142-29765143	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs72507839	chr6:29765145-29765146	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369067188	chr6:29765148-29765149	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs559749707	chr6:29765155-29765156	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs532066809	chr6:29765162-29765163	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200298173	chr6:29765168-29765169	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs73747522	chr6:29765240-29765241	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150403972	chr6:29765257-29765258	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29761000-29765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:29761800-29766200	Weak transcription	Pancreas	Pancrea
3	chr6:29763800-29764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:29763800-29766000	Enhancers	HMEC	breast
5	chr6:29763800-29766200	Enhancers	NHEK	skin
6	chr6:29763800-29766800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:29764000-29766000	Enhancers	NHDF-Ad	bronchial
8	chr6:29764400-29764800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:29764400-29765400	Enhancers	Hela-S3	cervix
10	chr6:29764600-29766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:29764800-29780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:29765000-29765400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr6:29765000-29765400	Enhancers	Stomach Mucosa	stomach
14	chr6:29765200-29765600	Enhancers	NH-A	brain
15	chr6:29765200-29765800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:29765800-29766200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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