Variant report

Variant	esv3450251
Chromosome Location	chr6:160639590-160640178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:160639920-160640070	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr6:160639920-160640070	HAc	cerebellar:	n/a	n/a
3	CTCF	chr6:160640027-160640029	ProgFib	skin:	n/a	n/a
4	POLR2A	chr6:160640066-160640071	A549	lung:	n/a	n/a
5	POLR2A	chr6:160639832-160640286	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr6:160640054-160640062	A549	lung:	n/a	n/a
7	POLR2A	chr6:160640018-160640048	A549	lung:	n/a	n/a
8	POLR2A	chr6:160640093-160640173	A549	lung:	n/a	n/a
9	POLR2A	chr6:160640052-160640053	A549	lung:	n/a	n/a
10	SUZ12	chr6:160639880-160640288	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF2	chr6:160639904-160640195	HepG2	liver:	n/a	n/a
12	ZNF143	chr6:160639905-160640254	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC22A2	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554556560	chr6:160639603-160639604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202178102	chr6:160639648-160639649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373841073	chr6:160639687-160639688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367849377	chr6:160639696-160639697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370271724	chr6:160639699-160639700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376291782	chr6:160639705-160639706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201874514	chr6:160639722-160639723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372610281	chr6:160639725-160639726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376503314	chr6:160639731-160639732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200284444	chr6:160639734-160639735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372258051	chr6:160639735-160639736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375225446	chr6:160639737-160639738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369256998	chr6:160639743-160639744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372458894	chr6:160639747-160639748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374683276	chr6:160639749-160639750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369894124	chr6:160639755-160639756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369993521	chr6:160639762-160639763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539038374	chr6:160639763-160639764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373307342	chr6:160639782-160639783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377343875	chr6:160639785-160639786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370793013	chr6:160639789-160639790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201704677	chr6:160639791-160639792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376464997	chr6:160639812-160639813	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs74627024	chr6:160639821-160639822	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs569599718	chr6:160639837-160639838	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs150979518	chr6:160639849-160639850	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144715963	chr6:160639854-160639855	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141652610	chr6:160639855-160639856	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145211378	chr6:160639857-160639858	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200569805	chr6:160639870-160639871	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs115379241	chr6:160639881-160639882	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs142095652	chr6:160639900-160639901	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs138564125	chr6:160639903-160639904	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs117119967	chr6:160639909-160639910	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112241651	chr6:160639921-160639922	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs80189902	chr6:160639950-160639951	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2928037	chr6:160639954-160639955	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs79845848	chr6:160639956-160639957	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs74491013	chr6:160639959-160639960	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs76901687	chr6:160639963-160639964	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2932082	chr6:160639974-160639975	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62639066	chr6:160639975-160639976	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62639067	chr6:160639984-160639985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2932081	chr6:160639986-160639987	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201587873	chr6:160639987-160639988	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62639068	chr6:160639989-160639990	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201682304	chr6:160639992-160639993	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62639069	chr6:160639993-160639994	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs9365147	chr6:160639996-160639997	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62639070	chr6:160640012-160640013	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160626800-160639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:160635800-160639800	Weak transcription	Pancreas	Pancrea
3	chr6:160637200-160639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:160637200-160639800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:160637400-160642200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:160637400-160642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:160639400-160639600	Enhancers	Fetal Kidney	kidney
8	chr6:160639400-160639600	Enhancers	Gastric	stomach
9	chr6:160639400-160640600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr6:160639600-160639800	Weak transcription	Fetal Kidney	kidney
11	chr6:160639600-160639800	Weak transcription	Gastric	stomach
12	chr6:160639600-160640200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:160639600-160640200	ZNF genes & repeats	Lung	lung
14	chr6:160639800-160640200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:160639800-160640200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr6:160639800-160640200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:160639800-160640200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:160639800-160640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:160639800-160640200	Enhancers	Colon Smooth Muscle	Colon
20	chr6:160639800-160640200	ZNF genes & repeats	Fetal Kidney	kidney
21	chr6:160639800-160640200	ZNF genes & repeats	Gastric	stomach
22	chr6:160639800-160640200	Bivalent Enhancer	Left Ventricle	heart
23	chr6:160639800-160640200	ZNF genes & repeats	Pancreas	Pancrea
24	chr6:160639800-160640200	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:160639800-160640200	Bivalent Enhancer	Right Ventricle	heart
26	chr6:160639800-160640200	ZNF genes & repeats	Spleen	Spleen
27	chr6:160639800-160640400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr6:160639800-160640800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr6:160640000-160640200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:160640000-160640200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:160640000-160640200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
32	chr6:160640000-160640200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
33	chr6:160640000-160640200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:160640000-160640200	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr6:160640000-160640200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr6:160640000-160640200	Bivalent/Poised TSS	Fetal Brain Male	brain
37	chr6:160640000-160640200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
38	chr6:160640000-160640400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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