Variant report

Variant	rs2176625
Chromosome Location	chr2:85961846-85961847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85960025..85963728-chr2:85966554..85970726,5	MCF-7	breast:
2	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:
3	chr2:85955595..85958581-chr2:85959613..85963230,3	K562	blood:
4	chr2:85773887..85776884-chr2:85959651..85962440,2	K562	blood:
5	chr2:85955595..85957858-chr2:85959613..85962219,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1356621	0.80[GIH][hapmap]
rs1356623	0.80[GIH][hapmap]
rs1465823	0.80[GIH][hapmap]
rs2118401	0.80[GIH][hapmap]
rs4832005	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832006	0.93[EUR][1000 genomes]
rs4832007	0.86[EUR][1000 genomes]
rs4832008	0.88[EUR][1000 genomes]
rs4832188	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4832190	0.88[EUR][1000 genomes]
rs4832191	0.87[EUR][1000 genomes]
rs6727520	0.92[EUR][1000 genomes]
rs6735639	0.92[EUR][1000 genomes]
rs6735655	0.92[EUR][1000 genomes]
rs7425090	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv527770	chr2:85949396-85962551	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2176625	CAPG	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85941200-85967400	Weak transcription	Esophagus	oesophagus
2	chr2:85952600-85962400	Weak transcription	Fetal Kidney	kidney
3	chr2:85955200-85966400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:85956600-85963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:85956600-85964000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:85956800-85962200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:85956800-85963000	Weak transcription	Adipose Nuclei	Adipose
8	chr2:85956800-85963000	Weak transcription	NHLF	lung
9	chr2:85957000-85962000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:85957000-85962200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:85957000-85962200	Weak transcription	Osteobl	bone
12	chr2:85958600-85965600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:85959000-85962400	Weak transcription	Fetal Lung	lung
14	chr2:85959200-85968000	Weak transcription	Fetal Heart	heart
15	chr2:85959400-85963200	Enhancers	Brain Anterior Caudate	brain
16	chr2:85959400-85964400	Enhancers	Psoas Muscle	Psoas
17	chr2:85959600-85962400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:85959600-85963200	Enhancers	Brain Substantia Nigra	brain
19	chr2:85959600-85963400	Enhancers	Brain Hippocampus Middle	brain
20	chr2:85960400-85962000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:85960400-85962400	Weak transcription	Stomach Mucosa	stomach
22	chr2:85960400-85966400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:85960600-85962200	Weak transcription	A549	lung
24	chr2:85960600-85962800	Enhancers	Right Atrium	heart
25	chr2:85960600-85963000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr2:85960600-85963200	Enhancers	HSMM	muscle
27	chr2:85960800-85964000	Weak transcription	Hela-S3	cervix
28	chr2:85960800-85965600	Enhancers	Colon Smooth Muscle	Colon
29	chr2:85960800-85968200	Weak transcription	Right Ventricle	heart
30	chr2:85961000-85964000	Enhancers	HUVEC	blood vessel
31	chr2:85961000-85966200	Enhancers	NHDF-Ad	bronchial
32	chr2:85961400-85962400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:85961400-85962400	Enhancers	Lung	lung
34	chr2:85961400-85963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:85961400-85963800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:85961400-85963800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:85961400-85967200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:85961600-85963200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:85961600-85964800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:85961600-85966000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:85961600-85968000	Weak transcription	Left Ventricle	heart
42	chr2:85961800-85962200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:85961800-85962600	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:85961800-85963000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:85961800-85964800	Weak transcription	HSMMtube	muscle
46	chr2:85961800-85965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links