Variant report

Variant	esv1820586
Chromosome Location	chr6:29762693-29767625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:184)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 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	chr6:29764833-29765396	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:29764624-29765292	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:29764566-29765479	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:29764602-29765459	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	chr6:29764904-29765223	Hela-S3	cervix:	n/a	chr6:29765035-29765050
13	MAFK	chr6:29764926-29765184	HepG2	liver:	n/a	chr6:29765035-29765050
14	MAFK	chr6:29764916-29765116	HepG2	liver:	n/a	chr6:29765035-29765050
15	MAFK	chr6:29764900-29765183	IMR90	lung:	n/a	chr6:29765035-29765050
16	MAX	chr6:29764965-29765409	Hela-S3	cervix:	n/a	n/a
17	MYC	chr6:29764850-29765434	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr6:29764922-29765277	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:29766632-29766749	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:29764905-29765031	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:29765780-29765860	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:29765025-29765525	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:29766114-29766275	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	chr6:29764733-29765461	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr6:29764741-29765296	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:29764808-29765514	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr6:29764807-29765196	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr6:29764727-29765522	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr6:29764080-29764431	MCF10A-Er-Src	breast:	n/a	n/a
33	TBP	chr6:29764996-29765253	Hela-S3	cervix:	n/a	n/a
34	USF1	chr6:29763838-29764097	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF1	chr6:29763795-29764096	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF2	chr6:29765006-29765406	Hela-S3	cervix:	n/a	chr6:29765170-29765181
37	ZKSCAN1	chr6:29765020-29765406	Hela-S3	cervix:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29765324-29765374	MCF-7	breast:	n/a
2	chr6:29765324-29765374	MCF-7	breast:	n/a
3	chr6:29763945-29763995	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:29763945-29763995	Caco-2	colon:	n/a
5	chr6:29763945-29763995	HEEpiC	esophagus:	n/a
6	chr6:29766061-29766111	HCF	heart:	n/a
7	chr6:29766061-29766111	HRCEpiC	kidney:	n/a
8	chr6:29763945-29763995	ProgFib	skin:	n/a
9	chr6:29766061-29766111	Hela-S3	cervix:	n/a
10	chr6:29765324-29765374	PANC-1	pancreas:	n/a
11	chr6:29765324-29765374	HRE	kidney:	n/a
12	chr6:29763945-29763995	SK-N-SH_RA	brain:	n/a
13	chr6:29765324-29765374	Jurkat	blood:	n/a
14	chr6:29763945-29763995	HAEpiC	amniotic membrane:	n/a
15	chr6:29763945-29763995	NT2-D1	testis:	n/a
16	chr6:29763945-29763995	RPTEC	kidney:	n/a
17	chr6:29766061-29766111	AG10803	skin:	n/a
18	chr6:29765324-29765374	MCF10A-Er-Src	breast:	n/a
19	chr6:29763945-29763995	HEK293	kidney:	embryo
20	chr6:29765324-29765374	T-47D	breast:	n/a
21	chr6:29766061-29766111	RPTEC	kidney:	n/a
22	chr6:29765324-29765374	Hepatocyte	liver:	n/a
23	chr6:29766061-29766111	BJ	skin:	n/a
24	chr6:29765324-29765374	HCF	heart:	n/a
25	chr6:29763945-29763995	HCPEpiC	choroid plexus:	n/a
26	chr6:29766061-29766111	CMK	blood:	n/a
27	chr6:29766061-29766111	HepG2	liver:	n/a
28	chr6:29763945-29763995	PFSK-1	brain:	n/a
29	chr6:29766061-29766111	HCM	heart:	n/a
30	chr6:29763945-29763995	GM19239	blood:	n/a
31	chr6:29763945-29763995	H1-hESC	embryonic stem cell:	embryo
32	chr6:29763945-29763995	Hela-S3	cervix:	n/a
33	chr6:29765324-29765374	GM12891	blood:	n/a
34	chr6:29763945-29763995	GM12891	blood:	n/a
35	chr6:29766061-29766111	GM06990	blood:	n/a
36	chr6:29765324-29765374	SKMC	muscle:	n/a
37	chr6:29763945-29763995	AG10803	skin:	n/a
38	chr6:29766061-29766111	IMR90	lung:	fetal
39	chr6:29765324-29765374	NB4	blood:	n/a
40	chr6:29765324-29765374	HUVEC	blood vessel:	n/a
41	chr6:29765324-29765374	AoSMC	blood vessel:	n/a
42	chr6:29763945-29763995	Hepatocyte	liver:	n/a
43	chr6:29765324-29765374	GM12892	blood:	n/a
44	chr6:29766061-29766111	SKMC	muscle:	n/a
45	chr6:29766061-29766111	NHBE	bronchial:	n/a
46	chr6:29765324-29765374	NHBE	bronchial:	n/a
47	chr6:29766061-29766111	LNCaP	prostate:	n/a
48	chr6:29763945-29763995	NB4	blood:	n/a
49	chr6:29763945-29763995	AG04450	lung:	fetal
50	chr6:29765324-29765374	HRPEpiC	eye:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29760873..29763751-chr6:29786445..29789008,2	MCF-7	breast:
2	chr6:29764926..29767618-chr6:29920990..29923179,3	MCF-7	breast:
3	chr6:29762168..29764765-chr6:29782319..29784097,2	K562	blood:
4	chr6:29764068..29767781-chr6:29769569..29773130,4	K562	blood:
5	chr6:29763208..29764709-chr6:29776682..29778485,2	MCF-7	breast:
6	chr6:29760049..29761986-chr6:29763646..29765387,2	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: 390 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:390 , 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	rs1633011	chr6:29762693-29762694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs386698461	chr6:29762729-29762730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58477674	chr6:29762730-29762731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370226633	chr6:29762764-29762765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73403721	chr6:29762814-29762815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199596044	chr6:29762826-29762827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557861605	chr6:29762838-29762839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59396305	chr6:29762839-29762840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377240930	chr6:29762868-29762869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77894866	chr6:29762875-29762876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1737002	chr6:29762903-29762904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs59408697	chr6:29762928-29762929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1633010	chr6:29762942-29762943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540632366	chr6:29762946-29762947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56182102	chr6:29762955-29762956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs56183732	chr6:29762970-29762971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543576751	chr6:29762972-29762973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140378769	chr6:29762995-29762996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116313505	chr6:29762998-29762999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56241766	chr6:29762999-29763000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542420664	chr6:29763026-29763027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562210390	chr6:29763058-29763059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59508891	chr6:29763066-29763067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56315562	chr6:29763072-29763073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564177988	chr6:29763077-29763078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114462371	chr6:29763078-29763079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1633009	chr6:29763087-29763088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72507838	chr6:29763094-29763095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201761668	chr6:29763111-29763112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200209097	chr6:29763112-29763113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200711018	chr6:29763113-29763114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565806174	chr6:29763114-29763115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542526407	chr6:29763115-29763116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565030251	chr6:29763116-29763117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372565958	chr6:29763126-29763127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10546744	chr6:29763128-29763129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373874335	chr6:29763158-29763159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116408465	chr6:29763175-29763176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142099983	chr6:29763212-29763213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184575048	chr6:29763213-29763214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189810811	chr6:29763238-29763239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148859015	chr6:29763297-29763298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201408142	chr6:29763299-29763300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368116837	chr6:29763302-29763303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78960639	chr6:29763303-29763304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9258407	chr6:29763307-29763308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13437595	chr6:29763308-29763309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9258408	chr6:29763311-29763312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201683757	chr6:29763315-29763316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58553945	chr6:29763316-29763317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29760400-29764400	Weak transcription	Hela-S3	cervix
2	chr6:29761000-29763000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:29761000-29765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:29761200-29763800	Weak transcription	HMEC	breast
5	chr6:29761200-29763800	Weak transcription	NHEK	skin
6	chr6:29761200-29764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:29761400-29763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:29761800-29766200	Weak transcription	Pancreas	Pancrea
9	chr6:29762200-29764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:29762600-29762800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:29763000-29763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:29763800-29764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:29763800-29766000	Enhancers	HMEC	breast
14	chr6:29763800-29766200	Enhancers	NHEK	skin
15	chr6:29763800-29766800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:29764000-29766000	Enhancers	NHDF-Ad	bronchial
17	chr6:29764400-29764800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:29764400-29765400	Enhancers	Hela-S3	cervix
19	chr6:29764600-29766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:29764800-29780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:29765000-29765400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr6:29765000-29765400	Enhancers	Stomach Mucosa	stomach
23	chr6:29765200-29765600	Enhancers	NH-A	brain
24	chr6:29765200-29765800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:29765800-29766200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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