Variant report

Variant	rs12305377
Chromosome Location	chr12:67717995-67717996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67712989..67715089-chr12:67716509..67719238,2	K562	blood:
2	chr12:67713525..67718128-chr12:67719850..67722693,5	MCF-7	breast:
3	chr12:67712478..67714489-chr12:67715652..67718009,2	K562	blood:
4	chr12:67714913..67718592-chr12:67718971..67722103,3	K562	blood:
5	chr12:67701166..67703768-chr12:67717126..67719527,2	MCF-7	breast:
6	chr12:67708053..67712275-chr12:67717926..67720355,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10878598	1.00[ASN][1000 genomes]
rs11176668	0.91[ASN][1000 genomes]
rs11176669	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176670	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176672	0.95[AFR][1000 genomes]
rs11176673	0.95[ASN][1000 genomes]
rs11176686	1.00[ASN][1000 genomes]
rs11176689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176693	0.88[AFR][1000 genomes]
rs11176703	1.00[ASN][1000 genomes]
rs11176704	1.00[ASN][1000 genomes]
rs11176705	1.00[ASN][1000 genomes]
rs11176707	1.00[ASN][1000 genomes]
rs11176711	0.95[ASN][1000 genomes]
rs12299097	0.95[AFR][1000 genomes]
rs12302564	1.00[ASN][1000 genomes]
rs12306657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311150	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12313282	0.97[AFR][1000 genomes]
rs12314146	1.00[ASN][1000 genomes]
rs12321396	0.97[AFR][1000 genomes]
rs3087577	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736630	0.95[ASN][1000 genomes]
rs55646172	0.95[ASN][1000 genomes]
rs55809526	0.95[ASN][1000 genomes]
rs55809587	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55906716	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55978724	0.95[ASN][1000 genomes]
rs56224819	0.95[ASN][1000 genomes]
rs56728872	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58114937	0.95[ASN][1000 genomes]
rs60009568	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60072946	0.95[ASN][1000 genomes]
rs60077199	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60104343	0.91[ASN][1000 genomes]
rs60971316	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61195985	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61219299	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137520	0.98[ASN][1000 genomes]
rs7296364	0.95[ASN][1000 genomes]
rs7298244	0.95[ASN][1000 genomes]
rs7307353	0.95[ASN][1000 genomes]
rs7312708	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954050	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976686	0.95[ASN][1000 genomes]
rs7978989	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
3	chr12:67712800-67718000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:67713400-67718000	Weak transcription	NHLF	lung
5	chr12:67713400-67725000	Weak transcription	Dnd41	blood
6	chr12:67713600-67720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:67714400-67719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:67715200-67718000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr12:67715200-67718200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:67715600-67718400	Weak transcription	NHEK	skin
11	chr12:67715800-67718000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr12:67716400-67718800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr12:67716600-67732000	Weak transcription	HMEC	breast
14	chr12:67716600-67748000	Weak transcription	HSMM	muscle
15	chr12:67716800-67718600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:67717000-67718600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:67717000-67718600	Weak transcription	NH-A	brain
18	chr12:67717000-67721400	Weak transcription	Thymus	Thymus
19	chr12:67717200-67718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67717200-67718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:67717200-67718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:67717200-67718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:67717400-67718000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:67717400-67718200	Enhancers	Psoas Muscle	Psoas
25	chr12:67717400-67731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:67717600-67720800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:67717800-67719400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links