Variant report

Variant	rs2304716
Chromosome Location	chr15:74325182-74325183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74284343..74287090-chr15:74322488..74325455,2	K562	blood:

Variant related genes	Relation type
ENSG00000067221	Chromatin interaction
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10162627	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs1052242	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1052246	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851866	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10851867	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10851868	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851869	0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11072458	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11072461	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072462	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072463	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072464	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs11072469	0.82[CEU][hapmap]
rs11633735	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635930	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11636016	1.00[CEU][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs11636065	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11636150	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11854321	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11857498	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442211	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs12592370	0.96[MEX][hapmap]
rs12593528	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12902857	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902945	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12910581	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12911807	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12911984	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550435	0.88[MKK][hapmap];0.93[YRI][hapmap]
rs2165242	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277599	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304717	0.81[ASW][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs2304718	0.96[MEX][hapmap]
rs3784561	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3784562	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4287518	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4547288	0.87[ASN][1000 genomes]
rs4886820	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4886844	1.00[MEX][hapmap]
rs4886845	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886846	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56194867	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7183908	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs734854	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs743580	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs752004	0.82[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.80[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8027327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027774	0.84[CEU][hapmap]
rs8028557	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8038991	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8039404	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8043489	0.81[CEU][hapmap]
rs9479	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.94[MKK][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv457203	chr15:74308940-74347723	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv569971	chr15:74308940-74347723	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv510666	chr15:74310738-74394745	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
2	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:74292000-74329200	Weak transcription	Fetal Brain Male	brain
4	chr15:74300800-74326000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:74302400-74331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:74303600-74331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:74304000-74326000	Weak transcription	Fetal Kidney	kidney
8	chr15:74306400-74330600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr15:74311000-74330400	Strong transcription	GM12878-XiMat	blood
10	chr15:74312200-74328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:74312800-74330600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:74313000-74338600	Strong transcription	Primary T cells from cord blood	blood
13	chr15:74313600-74330000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:74314200-74338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:74314400-74330400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:74314600-74330200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:74314600-74330400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:74314600-74338000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:74314800-74330400	Strong transcription	NHEK	skin
20	chr15:74315600-74326400	Weak transcription	Psoas Muscle	Psoas
21	chr15:74315800-74327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:74316000-74330600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:74316200-74326600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:74316400-74340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:74316800-74325800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:74316800-74326600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:74317400-74325200	Weak transcription	Right Atrium	heart
28	chr15:74317400-74327600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:74318200-74325200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:74318200-74325200	Weak transcription	Brain Germinal Matrix	brain
31	chr15:74318200-74325200	Weak transcription	Stomach Mucosa	stomach
32	chr15:74318200-74325400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:74318200-74325800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:74318400-74325200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:74318400-74325200	Weak transcription	Pancreas	Pancrea
36	chr15:74318400-74325400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:74318400-74325800	Weak transcription	Brain Angular Gyrus	brain
38	chr15:74318400-74329000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:74318400-74329400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:74318400-74331000	Weak transcription	Hela-S3	cervix
41	chr15:74318400-74331000	Weak transcription	K562	blood
42	chr15:74318400-74340200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:74318400-74340400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:74318600-74325200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:74318600-74325200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:74318600-74325200	Weak transcription	Esophagus	oesophagus
47	chr15:74318600-74325400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:74318600-74325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:74318600-74326200	Weak transcription	NH-A	brain
50	chr15:74318800-74326200	Weak transcription	HUVEC	blood vessel

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