Variant report

Variant	rs12692330
Chromosome Location	chr2:7086364-7086365
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	chr16:74751556..74754307-chr2:7086271..7088769,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10186855	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199111	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12477614	0.81[CEU][hapmap]
rs12477646	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12692331	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990806	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716896	0.94[ASW][hapmap];0.87[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7562120	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7068000-7087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:7069200-7088200	Weak transcription	Right Ventricle	heart
3	chr2:7075200-7095600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:7077800-7091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:7078200-7089400	Weak transcription	Fetal Brain Male	brain
6	chr2:7078200-7110800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:7079000-7113400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:7080400-7094800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:7080800-7086800	Strong transcription	Dnd41	blood
10	chr2:7080800-7087000	Weak transcription	A549	lung
11	chr2:7081200-7089000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:7081400-7087000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:7081400-7089600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:7081400-7112200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:7081600-7094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:7082600-7088000	Weak transcription	Fetal Heart	heart
17	chr2:7082600-7091800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:7082600-7100800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:7082800-7090800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:7083400-7086400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:7083400-7087000	Enhancers	Brain Substantia Nigra	brain
22	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:7084000-7088000	Weak transcription	K562	blood
24	chr2:7084200-7087800	Weak transcription	Lung	lung
25	chr2:7084200-7089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:7084200-7097200	Weak transcription	Fetal Lung	lung
27	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:7084400-7086400	Weak transcription	Aorta	Aorta
29	chr2:7084400-7086400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:7084400-7086400	Enhancers	NHDF-Ad	bronchial
31	chr2:7084400-7100400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:7084400-7100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:7084400-7109600	Weak transcription	Fetal Thymus	thymus
34	chr2:7084400-7110800	Weak transcription	Esophagus	oesophagus
35	chr2:7084600-7086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:7084600-7087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:7084600-7087400	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:7084600-7092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:7084600-7105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:7084600-7112800	Weak transcription	Thymus	Thymus
41	chr2:7084800-7086400	Enhancers	Brain Angular Gyrus	brain
42	chr2:7084800-7087800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:7084800-7088000	Weak transcription	Fetal Stomach	stomach
44	chr2:7084800-7095800	Weak transcription	Fetal Brain Female	brain
45	chr2:7085000-7087200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:7085000-7088000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:7085000-7095600	Weak transcription	Ovary	ovary
48	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
49	chr2:7085200-7086400	Enhancers	Brain Anterior Caudate	brain
50	chr2:7085200-7086400	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links