Variant report

Variant	rs6714240
Chromosome Location	chr2:46716703-46716704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46715260..46716783-chr2:46718663..46721578,2	MCF-7	breast:
2	chr2:46713674..46717376-chr2:46717590..46719594,3	K562	blood:
3	chr2:46712457..46718126-chr2:46724421..46727428,6	K562	blood:
4	chr2:46714508..46716993-chr2:46724518..46727090,2	K562	blood:
5	chr2:46716484..46718309-chr2:46842742..46845548,2	K562	blood:

Variant related genes	Relation type
ENSG00000253515	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11125078	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12470939	0.88[EUR][1000 genomes]
rs12471274	0.86[EUR][1000 genomes]
rs12473673	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12474961	0.86[EUR][1000 genomes]
rs12474965	0.91[EUR][1000 genomes]
rs12475015	0.84[AMR][1000 genomes]
rs12612916	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12613088	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12617193	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12619696	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619754	0.88[EUR][1000 genomes]
rs12621486	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622818	0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs1530623	0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs1551123	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1562454	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035200	0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1868095	0.83[EUR][1000 genomes]
rs1868845	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2053766	0.88[EUR][1000 genomes]
rs2121699	0.83[EUR][1000 genomes]
rs2166746	0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs2276555	0.82[CHB][hapmap]
rs2276556	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2881326	0.85[EUR][1000 genomes]
rs34405528	0.80[EUR][1000 genomes]
rs35589072	0.80[EUR][1000 genomes]
rs4145835	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4952825	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4952826	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4952827	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4953364	0.86[EUR][1000 genomes]
rs4953370	0.88[EUR][1000 genomes]
rs4953376	0.88[EUR][1000 genomes]
rs4953395	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871716	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56894248	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57996107	0.86[EUR][1000 genomes]
rs58402726	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58725320	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59013670	0.91[EUR][1000 genomes]
rs59761895	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59856996	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60685999	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61193538	0.86[EUR][1000 genomes]
rs66533451	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6723195	0.91[EUR][1000 genomes]
rs6746695	1.00[CEU][hapmap]
rs67739992	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67960524	0.89[EUR][1000 genomes]
rs68030749	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72618620	0.85[EUR][1000 genomes]
rs72618621	0.85[EUR][1000 genomes]
rs72618622	0.88[EUR][1000 genomes]
rs72618623	0.88[EUR][1000 genomes]
rs72618624	0.88[EUR][1000 genomes]
rs72618625	0.88[EUR][1000 genomes]
rs72618626	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72618627	0.88[EUR][1000 genomes]
rs72618628	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618629	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72618631	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72618632	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72873772	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7573688	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7574467	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7595513	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9710956	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv581747	chr2:46709571-46718989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46713600-46717600	Enhancers	Hela-S3	cervix
2	chr2:46713800-46718800	Enhancers	Spleen	Spleen
3	chr2:46714600-46718400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:46714600-46718600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:46714600-46718800	Enhancers	Fetal Heart	heart
6	chr2:46714600-46718800	Enhancers	NHLF	lung
7	chr2:46714600-46719200	Enhancers	Left Ventricle	heart
8	chr2:46714800-46718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:46714800-46718000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:46714800-46718600	Enhancers	Right Ventricle	heart
11	chr2:46714800-46718800	Enhancers	Adipose Nuclei	Adipose
12	chr2:46714800-46718800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:46714800-46720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:46714800-46721600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:46715000-46717600	Enhancers	Brain Anterior Caudate	brain
16	chr2:46715200-46718800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:46715400-46716800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:46715400-46717200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:46715400-46718200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:46715400-46720400	Weak transcription	HUVEC	blood vessel
21	chr2:46715600-46716800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:46715600-46716800	Weak transcription	HSMMtube	muscle
23	chr2:46715600-46717400	Weak transcription	Aorta	Aorta
24	chr2:46715600-46717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:46715600-46717600	Weak transcription	Ovary	ovary
26	chr2:46715600-46717800	Weak transcription	NH-A	brain
27	chr2:46715600-46718200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:46715600-46718200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:46715800-46717200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:46715800-46717200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:46715800-46717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:46715800-46717400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:46715800-46717800	Weak transcription	HSMM	muscle
34	chr2:46715800-46718000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:46715800-46719800	Weak transcription	A549	lung
36	chr2:46715800-46720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:46716000-46717200	Weak transcription	NHDF-Ad	bronchial
38	chr2:46716000-46717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:46716000-46718600	Enhancers	Brain Germinal Matrix	brain
40	chr2:46716200-46717600	Weak transcription	Psoas Muscle	Psoas
41	chr2:46716200-46717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:46716200-46718200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:46716200-46718600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr2:46716200-46718600	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:46716200-46719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:46716400-46717600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:46716400-46718000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:46716400-46718200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:46716400-46718400	Enhancers	Primary B cells from cord blood	blood
50	chr2:46716400-46718600	Enhancers	Fetal Brain Male	brain

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