Variant report

Variant	esv3363891
Chromosome Location	chr6:160640060-160640405
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	POLR2A	chr6:160639832-160640286	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr6:160640066-160640071	A549	lung:	n/a	n/a
5	POLR2A	chr6:160640093-160640173	A549	lung:	n/a	n/a
6	POLR2A	chr6:160640054-160640062	A549	lung:	n/a	n/a
7	SUZ12	chr6:160639880-160640288	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF2	chr6:160639904-160640195	HepG2	liver:	n/a	n/a
9	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: 54 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56300717	chr6:160640061-160640062	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
2	rs56143232	chr6:160640091-160640092	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
3	rs56257645	chr6:160640094-160640095	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
4	rs370404166	chr6:160640098-160640099	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
5	rs199640129	chr6:160640105-160640106	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
6	rs55912032	chr6:160640107-160640108	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
7	rs374901490	chr6:160640112-160640113	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
8	rs201594259	chr6:160640115-160640116	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
9	rs371263082	chr6:160640116-160640117	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
10	rs374573869	chr6:160640117-160640118	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
11	rs368655185	chr6:160640118-160640119	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
12	rs371944456	chr6:160640120-160640121	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
13	rs200825894	chr6:160640124-160640125	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
14	rs62637551	chr6:160640125-160640126	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
15	rs200340734	chr6:160640127-160640128	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
16	rs62637552	chr6:160640128-160640129	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
17	rs202215663	chr6:160640130-160640131	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
18	rs62637553	chr6:160640133-160640134	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
19	rs374512282	chr6:160640134-160640135	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
20	rs115236597	chr6:160640136-160640137	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
21	rs62650394	chr6:160640137-160640138	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
22	rs62650395	chr6:160640139-160640140	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
23	rs199770711	chr6:160640142-160640143	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
24	rs200507818	chr6:160640143-160640144	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
25	rs377761364	chr6:160640144-160640145	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
26	rs62637554	chr6:160640146-160640147	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
27	rs201476125	chr6:160640151-160640152	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
28	rs368097458	chr6:160640155-160640156	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
29	rs62650396	chr6:160640157-160640158	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
30	rs371525136	chr6:160640182-160640183	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
31	rs201459151	chr6:160640190-160640191	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
32	rs199649564	chr6:160640196-160640197	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
33	rs111210742	chr6:160640202-160640203	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs78557735	chr6:160640214-160640215	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs76798489	chr6:160640215-160640216	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs145768309	chr6:160640217-160640218	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140279601	chr6:160640226-160640227	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs59061112	chr6:160640231-160640232	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199693777	chr6:160640232-160640233	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs147980312	chr6:160640235-160640236	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150511572	chr6:160640236-160640237	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116775115	chr6:160640239-160640240	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368815358	chr6:160640278-160640279	ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374096494	chr6:160640310-160640311	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs375835221	chr6:160640343-160640344	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs369894917	chr6:160640346-160640347	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs373090462	chr6:160640347-160640348	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs377295847	chr6:160640349-160640350	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs370670982	chr6:160640355-160640356	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs575090930	chr6:160640356-160640357	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	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	chr6:160637400-160642200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:160637400-160642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:160639400-160640600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr6:160639600-160640200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:160639600-160640200	ZNF genes & repeats	Lung	lung
6	chr6:160639800-160640200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:160639800-160640200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr6:160639800-160640200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:160639800-160640200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:160639800-160640200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:160639800-160640200	Enhancers	Colon Smooth Muscle	Colon
12	chr6:160639800-160640200	ZNF genes & repeats	Fetal Kidney	kidney
13	chr6:160639800-160640200	ZNF genes & repeats	Gastric	stomach
14	chr6:160639800-160640200	Bivalent Enhancer	Left Ventricle	heart
15	chr6:160639800-160640200	ZNF genes & repeats	Pancreas	Pancrea
16	chr6:160639800-160640200	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:160639800-160640200	Bivalent Enhancer	Right Ventricle	heart
18	chr6:160639800-160640200	ZNF genes & repeats	Spleen	Spleen
19	chr6:160639800-160640400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr6:160639800-160640800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr6:160640000-160640200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:160640000-160640200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:160640000-160640200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
24	chr6:160640000-160640200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr6:160640000-160640200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:160640000-160640200	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr6:160640000-160640200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr6:160640000-160640200	Bivalent/Poised TSS	Fetal Brain Male	brain
29	chr6:160640000-160640200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr6:160640000-160640400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:160640200-160640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:160640200-160643400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:160640200-160643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:160640200-160643400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:160640200-160643400	Weak transcription	Gastric	stomach
36	chr6:160640200-160643400	Weak transcription	Pancreas	Pancrea
37	chr6:160640200-160645600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:160640400-160651200	Weak transcription	Stomach Smooth Muscle	stomach

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