Variant report

Variant	rs12612513
Chromosome Location	chr2:86301225-86301226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86299304..86302856-chr2:86304036..86307072,4	MCF-7	breast:
2	chr2:86299624..86302414-chr2:86309471..86311808,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10165327	0.87[ASN][1000 genomes]
rs10168635	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10174095	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179090	0.87[ASN][1000 genomes]
rs1019591	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036554	0.93[ASN][1000 genomes]
rs10427394	0.87[ASN][1000 genomes]
rs11899576	0.93[ASN][1000 genomes]
rs12614260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617717	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12620810	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12621992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12622009	0.94[ASN][1000 genomes]
rs12624126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13384563	0.91[ASN][1000 genomes]
rs13390702	0.93[ASN][1000 genomes]
rs1559516	0.86[ASN][1000 genomes]
rs1561328	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17026854	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17027011	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17584578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17618001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018608	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2164879	0.94[ASN][1000 genomes]
rs2241435	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2241437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278085	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278086	1.00[AMR][1000 genomes]
rs2278087	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278088	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288121	0.89[ASN][1000 genomes]
rs2289237	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2303339	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2303340	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs311562	0.89[ASN][1000 genomes]
rs311566	0.89[ASN][1000 genomes]
rs311567	0.89[ASN][1000 genomes]
rs34522092	0.88[ASN][1000 genomes]
rs3731819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770066	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770081	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770087	0.94[ASN][1000 genomes]
rs3770089	0.94[ASN][1000 genomes]
rs3770090	0.94[ASN][1000 genomes]
rs3810827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815840	0.89[ASN][1000 genomes]
rs4832242	0.89[ASN][1000 genomes]
rs4832250	0.86[ASN][1000 genomes]
rs56104203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56326127	0.88[ASN][1000 genomes]
rs56977454	0.88[ASN][1000 genomes]
rs57083584	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57398459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58186343	0.90[ASN][1000 genomes]
rs58365138	0.88[ASN][1000 genomes]
rs58898686	0.90[ASN][1000 genomes]
rs59835600	0.86[ASN][1000 genomes]
rs59947468	1.00[AMR][1000 genomes]
rs60479377	1.00[AMR][1000 genomes]
rs60649958	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60719866	1.00[AMR][1000 genomes]
rs6724758	0.83[AFR][1000 genomes]
rs6750765	0.97[ASN][1000 genomes]
rs6761735	0.83[AFR][1000 genomes]
rs73943946	0.93[ASN][1000 genomes]
rs73947314	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608262	0.92[ASN][1000 genomes]
rs9789563	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973880	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:86286000-86302200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:86286000-86331000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:86286000-86331200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:86286200-86310400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:86286200-86311200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:86289800-86307200	Strong transcription	HepG2	liver
11	chr2:86290200-86310800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:86290600-86306200	Strong transcription	Fetal Intestine Large	intestine
13	chr2:86290800-86310200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:86290800-86314600	Strong transcription	HMEC	breast
15	chr2:86290800-86318600	Strong transcription	K562	blood
16	chr2:86290800-86322600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr2:86291000-86311200	Strong transcription	Fetal Brain Female	brain
18	chr2:86291600-86319000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:86291800-86311400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:86291800-86318800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:86292800-86331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:86294800-86309600	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr2:86295200-86301600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:86295200-86323200	Strong transcription	Fetal Stomach	stomach
25	chr2:86295600-86306600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:86295800-86308400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:86295800-86308600	Strong transcription	Brain Germinal Matrix	brain
28	chr2:86295800-86308600	Strong transcription	NHEK	skin
29	chr2:86296000-86304400	Strong transcription	Primary T cells from cord blood	blood
30	chr2:86296000-86322400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:86296200-86302400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:86296200-86305600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:86296200-86306400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:86296400-86305400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:86296400-86306000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:86296400-86306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:86296400-86307600	Weak transcription	Fetal Heart	heart
38	chr2:86296600-86303800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:86296600-86307200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:86296800-86306400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:86297000-86305200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:86297200-86303400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:86297200-86305000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:86297200-86307000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:86297400-86307400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:86297600-86306400	Strong transcription	Dnd41	blood
47	chr2:86298600-86307400	Weak transcription	Fetal Brain Male	brain
48	chr2:86299000-86301600	Genic enhancers	A549	lung
49	chr2:86299000-86306600	Strong transcription	Fetal Intestine Small	intestine
50	chr2:86299200-86302200	Strong transcription	Placenta Amnion	Placenta Amnion

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