Variant report

Variant	nsv7984
Chromosome Location	chr6:160698601-160713950
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	chr6:160699440-160699590	HepG2	liver:	n/a	n/a
2	CTCF	chr6:160702051-160702153	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr6:160712415-160712457	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr6:160700660-160700810	NHEK	skin:	n/a	n/a
5	CUX1	chr6:160703536-160703812	K562	blood:	n/a	n/a
6	E2F4	chr6:160705837-160706037	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:160700881-160701234	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:160700857-160701219	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:160700937-160701186	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:160700947-160701147	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr6:160700869-160701221	A549	lung:	n/a	n/a
12	FOXA1	chr6:160708322-160708628	HepG2	liver:	n/a	n/a
13	FOXA2	chr6:160708383-160708724	A549	lung:	n/a	n/a
14	FOXA2	chr6:160708359-160708753	A549	lung:	n/a	n/a
15	GATA3	chr6:160703832-160704147	SH-SY5Y	brain:	n/a	n/a
16	MAFK	chr6:160705820-160705827	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr6:160713792-160713800	MCF10A-Er-Src	breast:	n/a	n/a
18	NR3C1	chr6:160699854-160700267	A549	lung:	n/a	n/a
19	NR3C1	chr6:160699804-160700219	A549	lung:	n/a	n/a
20	NR3C1	chr6:160699835-160700199	A549	lung:	n/a	n/a
21	NR3C1	chr6:160699891-160700142	A549	lung:	n/a	n/a
22	NR3C1	chr6:160699822-160700315	A549	lung:	n/a	n/a
23	SETDB1	chr6:160700898-160701441	U2OS	brain:	n/a	n/a
24	STAT3	chr6:160700952-160700966	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr6:160700920-160701008	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr6:160702330-160702629	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF7L2	chr6:160713832-160714029	HepG2	liver:	n/a	n/a
28	ZNF143	chr6:160698623-160698778	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLC22A2	TF binding region

Extended variants
information (count: 495 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116489382	chr6:160698646-160698647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148417346	chr6:160698652-160698653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527265320	chr6:160698655-160698656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184273302	chr6:160698663-160698664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563799094	chr6:160698683-160698684	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533051219	chr6:160698684-160698685	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549649536	chr6:160698716-160698717	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs570215477	chr6:160698725-160698726	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374987720	chr6:160698733-160698734	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9457880	chr6:160698739-160698740	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115999899	chr6:160698741-160698742	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534973088	chr6:160698792-160698793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs9457881	chr6:160698794-160698795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16891342	chr6:160698807-160698808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372270411	chr6:160698812-160698813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3850659	chr6:160698826-160698827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557210722	chr6:160698841-160698842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112101213	chr6:160698851-160698852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554562428	chr6:160698852-160698853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576167573	chr6:160698880-160698881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541683060	chr6:160698885-160698886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73784340	chr6:160698895-160698896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377068111	chr6:160698901-160698902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386707798	chr6:160698904-160698905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75048499	chr6:160698906-160698907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73602483	chr6:160698926-160698927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371614904	chr6:160698927-160698928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574651645	chr6:160698938-160698939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76612136	chr6:160698951-160698952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199914389	chr6:160698952-160698953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397888507	chr6:160698962-160698963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79354719	chr6:160698964-160698965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111593681	chr6:160698996-160698997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549824404	chr6:160699012-160699013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563260552	chr6:160699019-160699020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2619275	chr6:160699023-160699024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs60966425	chr6:160699053-160699054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558487221	chr6:160699055-160699056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202215259	chr6:160699066-160699067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199811766	chr6:160699069-160699070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144447350	chr6:160699087-160699088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17589858	chr6:160699116-160699117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs566327839	chr6:160699129-160699130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189085306	chr6:160699171-160699172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552141990	chr6:160699182-160699183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532290108	chr6:160699205-160699206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537080846	chr6:160699209-160699210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377481338	chr6:160699255-160699256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370997537	chr6:160699260-160699261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16891347	chr6:160699307-160699308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160695800-160698800	Enhancers	Fetal Muscle Leg	muscle
2	chr6:160696600-160698800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:160697000-160698800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:160697000-160699000	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:160697600-160700000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:160698200-160699200	Enhancers	Fetal Brain Male	brain
7	chr6:160698400-160698800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:160698400-160698800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr6:160698600-160700000	Weak transcription	Psoas Muscle	Psoas
10	chr6:160698800-160699600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:160698800-160699600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:160698800-160699800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:160699600-160700400	Enhancers	NHEK	skin
14	chr6:160699800-160700000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:160699800-160701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:160700000-160700200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:160700000-160700400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:160700000-160700400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:160700200-160700400	Enhancers	Psoas Muscle	Psoas
20	chr6:160700200-160700800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:160700200-160700800	Enhancers	HMEC	breast
22	chr6:160700400-160700800	Flanking Active TSS	NHEK	skin
23	chr6:160700800-160701400	Enhancers	NHEK	skin
24	chr6:160705400-160706200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:160706200-160707600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:160706400-160707600	Enhancers	Stomach Mucosa	stomach
27	chr6:160707000-160707600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:160707400-160707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:160710200-160711000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:160710400-160721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:160711000-160714800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:160713200-160713400	Enhancers	Aorta	Aorta
33	chr6:160713200-160713800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:160713400-160713800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:160713400-160718600	Weak transcription	Aorta	Aorta
36	chr6:160713800-160714800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links