Variant report

Variant	esv1807904
Chromosome Location	chr6:58250462-58265009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:58262027-58262420	K562	blood:	n/a	n/a
2	CEBPB	chr6:58262093-58262326	K562	blood:	n/a	n/a
3	CTCF	chr6:58256365-58256688	K562	blood:	n/a	n/a
4	CTCF	chr6:58262020-58262170	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr6:58262040-58262190	HEK293	kidney:	n/a	n/a
6	CTCF	chr6:58256381-58256729	K562	blood:	n/a	n/a
7	CTCF	chr6:58262100-58262250	GM12875	blood:	n/a	n/a
8	CTCF	chr6:58261980-58262273	K562	blood:	n/a	n/a
9	CTCF	chr6:58262080-58262230	GM12871	blood:	n/a	n/a
10	CTCF	chr6:58261871-58262335	K562	blood:	n/a	n/a
11	CTCF	chr6:58261965-58262278	K562	blood:	n/a	n/a
12	CTCF	chr6:58262080-58262230	SK-N-SH_RA	brain:	n/a	n/a
13	FOXA1	chr6:58257736-58258122	HepG2	liver:	n/a	n/a
14	FOXA1	chr6:58253287-58253443	T-47D	breast:	n/a	n/a
15	FOXA2	chr6:58254029-58254447	A549	lung:	n/a	n/a
16	FOXP2	chr6:58254853-58255082	PFSK-1	brain:	n/a	n/a
17	GABPA	chr6:58255406-58255607	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr6:58252772-58252994	Hela-S3	cervix:	n/a	n/a
19	JUND	chr6:58250610-58250784	HepG2	liver:	n/a	n/a
20	NR2F2	chr6:58262063-58262376	K562	blood:	n/a	n/a
21	PAX5	chr6:58260694-58260873	GM12878	blood:	n/a	n/a
22	PAX5	chr6:58254519-58254670	GM12878	blood:	n/a	n/a
23	PAX5	chr6:58259787-58260056	GM12878	blood:	n/a	n/a
24	PAX5	chr6:58255269-58255528	GM12878	blood:	n/a	n/a
25	PAX5	chr6:58251537-58251720	GM12878	blood:	n/a	n/a
26	PAX5	chr6:58252698-58253025	GM12878	blood:	n/a	n/a
27	PBX3	chr6:58257922-58258171	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:58260628-58260798	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:58262973-58263139	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:58264501-58264662	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:58255389-58255681	GM12878	blood:	n/a	n/a
32	POU2F2	chr6:58252717-58253041	GM12878	blood:	n/a	n/a
33	POU2F2	chr6:58257863-58258217	GM12878	blood:	n/a	n/a
34	POU2F2	chr6:58250508-58250881	GM12878	blood:	n/a	n/a
35	SPI1	chr6:58252806-58252946	K562	blood:	n/a	n/a
36	SPI1	chr6:58255389-58255603	GM12878	blood:	n/a	n/a
37	SPI1	chr6:58253289-58253470	GM12878	blood:	n/a	n/a
38	TCF3	chr6:58252730-58252976	GM12878	blood:	n/a	n/a
39	USF1	chr6:58261152-58261254	HepG2	liver:	n/a	n/a
40	ZBTB33	chr6:58250669-58250875	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr6:58262092-58262200	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58263193-58263243	NHBE	bronchial:	n/a
2	chr6:58263193-58263243	NHBE	bronchial:	n/a
3	chr6:58263122-58263172	AG09319	gingival:	n/a
4	chr6:58259157-58259207	HIPEpiC	eye:	n/a
5	chr6:58263193-58263243	ECC-1	luminal epithelium:	n/a
6	chr6:58263193-58263243	AG04449	skin:	fetal
7	chr6:58263193-58263243	AG09319	gingival:	n/a
8	chr6:58259157-58259207	GM06990	blood:	n/a
9	chr6:58263122-58263172	GM12878	blood:	n/a
10	chr6:58259157-58259207	T-47D	breast:	n/a
11	chr6:58263122-58263172	AoSMC	blood vessel:	n/a
12	chr6:58263193-58263243	HIPEpiC	eye:	n/a
13	chr6:58263122-58263172	LNCaP	prostate:	n/a
14	chr6:58263193-58263243	AG10803	skin:	n/a
15	chr6:58259157-58259207	IMR90	lung:	fetal
16	chr6:58259157-58259207	HL-60	blood:	n/a
17	chr6:58263193-58263243	HEK293	kidney:	embryo
18	chr6:58263193-58263243	HAEpiC	amniotic membrane:	n/a
19	chr6:58259157-58259207	AG10803	skin:	n/a
20	chr6:58263193-58263243	AoSMC	blood vessel:	n/a
21	chr6:58259157-58259207	AoSMC	blood vessel:	n/a
22	chr6:58259157-58259207	Caco-2	colon:	n/a
23	chr6:58259157-58259207	HEEpiC	esophagus:	n/a
24	chr6:58263122-58263172	HCT-116	colon:	n/a
25	chr6:58263122-58263172	NH-A	brain:	n/a
26	chr6:58263122-58263172	GM19239	blood:	n/a
27	chr6:58259157-58259207	HRCEpiC	kidney:	n/a
28	chr6:58263122-58263172	SK-N-MC	brain:	n/a
29	chr6:58259157-58259207	AG04450	lung:	fetal
30	chr6:58263193-58263243	BE2_C	brain:	n/a
31	chr6:58263193-58263243	RPTEC	kidney:	n/a
32	chr6:58263193-58263243	HCF	heart:	n/a
33	chr6:58263122-58263172	CMK	blood:	n/a
34	chr6:58263193-58263243	GM06990	blood:	n/a
35	chr6:58263122-58263172	SAEC	small airway:	n/a
36	chr6:58263193-58263243	Hela-S3	cervix:	n/a
37	chr6:58259157-58259207	HCF	heart:	n/a
38	chr6:58263193-58263243	CMK	blood:	n/a
39	chr6:58263122-58263172	NB4	blood:	n/a
40	chr6:58263122-58263172	K562	blood:	n/a
41	chr6:58263193-58263243	AG04450	lung:	fetal
42	chr6:58259157-58259207	SK-N-MC	brain:	n/a
43	chr6:58263193-58263243	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:58263122-58263172	MCF-7	breast:	n/a
45	chr6:58263122-58263172	HCF	heart:	n/a
46	chr6:58263193-58263243	HCT-116	colon:	n/a
47	chr6:58259157-58259207	GM12891	blood:	n/a
48	chr6:58263193-58263243	HRCEpiC	kidney:	n/a
49	chr6:58263193-58263243	A549	lung:	n/a
50	chr6:58263193-58263243	HepG2	liver:	n/a

No data

Variant related genes	Relation type
GUSBP4	TF binding region
POM121L14P	TF binding region
GUSBP4	CpG island
POM121L14P	CpG island

Extended variants
information (count: 596 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531697302	chr6:58250464-58250465	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2984511	chr6:58250468-58250469	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538944718	chr6:58250504-58250505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550226586	chr6:58250530-58250531	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571767397	chr6:58250541-58250542	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532695035	chr6:58250553-58250554	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9500243	chr6:58250570-58250571	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs566617495	chr6:58250578-58250579	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185772260	chr6:58250604-58250605	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114257288	chr6:58250618-58250619	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567481071	chr6:58250635-58250636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199742976	chr6:58250676-58250677	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201824076	chr6:58250688-58250689	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375334946	chr6:58250689-58250690	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369547487	chr6:58250700-58250701	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555784966	chr6:58250714-58250715	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199959172	chr6:58250729-58250730	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372573683	chr6:58250730-58250731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200909951	chr6:58250731-58250732	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553452463	chr6:58250764-58250765	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189023379	chr6:58250767-58250768	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542867508	chr6:58250813-58250814	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201695504	chr6:58250847-58250848	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531959653	chr6:58250856-58250857	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543830948	chr6:58250861-58250862	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs369831809	chr6:58250899-58250900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565240184	chr6:58250977-58250978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532555896	chr6:58250989-58250990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547886756	chr6:58251207-58251208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373451240	chr6:58251228-58251229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566059199	chr6:58251231-58251232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180911412	chr6:58251232-58251233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377267049	chr6:58251262-58251263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186142333	chr6:58251274-58251275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567546537	chr6:58251298-58251299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537790326	chr6:58251318-58251319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549675501	chr6:58251321-58251322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570865411	chr6:58251329-58251330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538269577	chr6:58251362-58251363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553796666	chr6:58251369-58251370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376942334	chr6:58251441-58251442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572080710	chr6:58251518-58251519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374615457	chr6:58251525-58251526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376431123	chr6:58251543-58251544	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370866630	chr6:58251606-58251607	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572278394	chr6:58251608-58251609	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2475608	chr6:58251644-58251645	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs2475609	chr6:58251648-58251649	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576718994	chr6:58251649-58251650	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192256383	chr6:58251656-58251657	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58237800-58253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:58238000-58252600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:58238000-58252800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:58243800-58252800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:58243800-58254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:58244000-58252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:58244000-58252800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:58244000-58252800	Weak transcription	Thymus	Thymus
10	chr6:58244000-58253000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:58244000-58254600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:58244000-58258600	Weak transcription	Pancreas	Pancrea
13	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:58244200-58252400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
16	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:58244600-58252600	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:58244600-58253000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:58244600-58254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:58244600-58255400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:58245600-58253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:58245800-58253200	Weak transcription	Esophagus	oesophagus
24	chr6:58245800-58261800	Weak transcription	Aorta	Aorta
25	chr6:58245800-58272400	Weak transcription	Fetal Brain Female	brain
26	chr6:58245800-58272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:58245800-58275000	Weak transcription	Brain Angular Gyrus	brain
28	chr6:58246400-58252600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:58246400-58255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:58246800-58254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:58247200-58272400	Weak transcription	Left Ventricle	heart
32	chr6:58247200-58273200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:58248000-58251200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:58248400-58251000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr6:58248600-58251000	Strong transcription	Lung	lung
36	chr6:58248800-58272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:58249000-58251400	Strong transcription	Adipose Nuclei	Adipose
38	chr6:58249000-58257800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:58249800-58251200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:58250000-58251000	Strong transcription	Spleen	Spleen
41	chr6:58250200-58250800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:58250200-58250800	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:58250200-58250800	Strong transcription	Gastric	stomach
44	chr6:58250200-58250800	Strong transcription	Ovary	ovary
45	chr6:58250200-58251000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:58250200-58251200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:58250200-58251200	Strong transcription	Liver	Liver
48	chr6:58250200-58251200	Strong transcription	Fetal Stomach	stomach
49	chr6:58250400-58251200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:58250400-58252400	Strong transcription	Primary T cells from cord blood	blood

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