Variant report

Variant	rs7309634
Chromosome Location	chr12:122116991-122116992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122110522..122113228-chr12:122115462..122118527,3	MCF-7	breast:
2	chr12:122111338..122114231-chr12:122116440..122119005,2	K562	blood:
3	chr12:122115091..122119007-chr12:122123231..122126528,5	K562	blood:

Variant related genes	Relation type
ENSG00000139714	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834237	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835830	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12579896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642824	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918170	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135040	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299610	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122111400-122117000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122111400-122117000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:122111400-122117000	Weak transcription	Thymus	Thymus
4	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122111600-122117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:122111600-122117000	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:122111600-122119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
11	chr12:122111800-122117200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:122113000-122117000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:122114600-122117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:122116000-122117000	Enhancers	K562	blood
15	chr12:122116000-122117600	Enhancers	Fetal Muscle Leg	muscle
16	chr12:122116200-122117000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122116200-122117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122116200-122117400	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:122116200-122118000	Enhancers	Brain Germinal Matrix	brain
20	chr12:122116400-122117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:122116400-122117200	Enhancers	HSMM	muscle
22	chr12:122116400-122117400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:122116400-122117400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:122116600-122117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122116600-122117400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:122116600-122117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:122116600-122118600	Enhancers	Placenta	Placenta
28	chr12:122116800-122117200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:122116800-122117200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:122116800-122117200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:122116800-122117200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:122116800-122117200	Flanking Active TSS	HepG2	liver
33	chr12:122116800-122117400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:122116800-122117400	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:122116800-122117400	Enhancers	Fetal Stomach	stomach
36	chr12:122116800-122117400	Enhancers	Fetal Thymus	thymus
37	chr12:122116800-122117600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:122116800-122117600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:122116800-122117600	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links