Variant report

Variant	rs10846896
Chromosome Location	chr12:122932472-122932473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122906669..122909024-chr12:122932310..122934097,2	MCF-7	breast:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10846839	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846854	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846879	0.81[ASN][1000 genomes]
rs10847103	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11057787	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11057801	0.80[EUR][1000 genomes]
rs11057810	0.81[EUR][1000 genomes]
rs11057832	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057894	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057934	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058001	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058043	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058062	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058064	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058099	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058136	0.85[EUR][1000 genomes]
rs11058143	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058144	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058159	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058186	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11058206	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058232	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058237	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058480	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12229152	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12229345	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424715	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427143	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2173581	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817012	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4758661	0.80[ASN][1000 genomes]
rs4758672	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758694	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758697	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56863652	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61954421	0.80[ASN][1000 genomes]
rs61954422	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61954424	0.81[EUR][1000 genomes]
rs61954425	0.81[EUR][1000 genomes]
rs61954427	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61954441	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61954442	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61954447	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61954450	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956097	0.81[ASN][1000 genomes]
rs8181750	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs882969	0.89[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931400-122933000	Weak transcription	Placenta	Placenta
3	chr12:122931400-122933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:122931400-122938200	Weak transcription	HepG2	liver
5	chr12:122931800-122933600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:122931800-122933800	Weak transcription	A549	lung
7	chr12:122931800-122934000	Weak transcription	NHLF	lung
8	chr12:122931800-122934200	Weak transcription	NHEK	skin
9	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:122932000-122933600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:122932000-122933800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:122932000-122933800	Weak transcription	HMEC	breast
14	chr12:122932000-122934200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122932200-122934000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:122932400-122933600	Weak transcription	Hela-S3	cervix

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