Variant report

Variant	rs1737083
Chromosome Location	chr6:29717811-29717812
allele	C/T
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	POLR2A	chr6:29716473-29717834	PFSK-1	brain:	n/a	n/a
2	JUND	chr6:29717492-29717822	HepG2	liver:	n/a	chr6:29717659-29717668
3	RELA	chr6:29716550-29717846	GM15510	blood:	n/a	n/a
4	JUND	chr6:29717270-29717830	K562	blood:	n/a	chr6:29717659-29717668
5	JUN	chr6:29717484-29717811	HepG2	liver:	n/a	chr6:29717659-29717668 chr6:29717658-29717671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:

Variant related genes	Relation type
HLA-F-AS1	TF binding region
ENSG00000199290	TF binding region
MICE	TF binding region
ENSG00000272236	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1610622	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610733	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610734	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610741	0.80[ASN][1000 genomes]
rs1623122	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633084	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633085	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633089	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867712	0.88[ASN][1000 genomes]
rs1737085	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2394164	0.85[ASN][1000 genomes]
rs34260811	0.89[ASN][1000 genomes]
rs4713237	0.83[ASN][1000 genomes]
rs4713239	0.88[ASN][1000 genomes]
rs4713240	0.90[ASN][1000 genomes]
rs4713242	0.85[ASN][1000 genomes]
rs4713244	0.89[ASN][1000 genomes]
rs760145	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7754067	0.85[ASN][1000 genomes]
rs7759474	0.86[ASN][1000 genomes]
rs7759482	0.81[ASN][1000 genomes]
rs909728	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909729	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368609	0.88[ASN][1000 genomes]
rs9391660	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv969373	chr6:29717694-29719688	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29715600-29718000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:29717000-29718000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:29717000-29720000	Enhancers	Spleen	Spleen
4	chr6:29717200-29718200	Enhancers	Esophagus	oesophagus
5	chr6:29717200-29719600	Weak transcription	HSMM	muscle
6	chr6:29717400-29718000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:29717400-29718000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:29717400-29718000	Enhancers	Aorta	Aorta
9	chr6:29717400-29718000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr6:29717400-29718000	Enhancers	Ovary	ovary
11	chr6:29717400-29718200	Enhancers	Liver	Liver
12	chr6:29717400-29719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:29717400-29719400	Weak transcription	Lung	lung
14	chr6:29717400-29719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:29717400-29719600	Weak transcription	A549	lung
16	chr6:29717400-29719600	Weak transcription	HUVEC	blood vessel
17	chr6:29717400-29719800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:29717400-29719800	Enhancers	Left Ventricle	heart
19	chr6:29717400-29719800	Weak transcription	HSMMtube	muscle
20	chr6:29717400-29719800	Weak transcription	Osteobl	bone
21	chr6:29717400-29720000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:29717400-29720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:29717600-29718000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr6:29717600-29718000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:29717600-29718000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:29717600-29718000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:29717600-29718000	Enhancers	Adipose Nuclei	Adipose
28	chr6:29717600-29718000	Enhancers	Colon Smooth Muscle	Colon
29	chr6:29717600-29718000	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:29717600-29718000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:29717600-29718000	Bivalent Enhancer	HepG2	liver
32	chr6:29717600-29718200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:29717600-29718200	Enhancers	Right Atrium	heart
34	chr6:29717600-29719400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:29717600-29719400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:29717600-29719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:29717600-29719400	Weak transcription	NHLF	lung
38	chr6:29717600-29719600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:29717600-29719600	Weak transcription	Hela-S3	cervix
40	chr6:29717600-29719800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:29717600-29719800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:29717600-29719800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:29717600-29719800	Weak transcription	Brain Anterior Caudate	brain
44	chr6:29717600-29719800	Weak transcription	Colonic Mucosa	Colon
45	chr6:29717600-29719800	Weak transcription	Psoas Muscle	Psoas
46	chr6:29717600-29719800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:29717600-29719800	Enhancers	Right Ventricle	heart
48	chr6:29717600-29719800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:29717600-29719800	Weak transcription	Stomach Mucosa	stomach
50	chr6:29717600-29719800	Weak transcription	NHEK	skin

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