Variant report

Variant	rs10195230
Chromosome Location	chr2:55127491-55127492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55092274..55094701-chr2:55126446..55129153,2	K562	blood:
2	chr2:55126912..55127637-chr2:55402459..55403324,2	K562	blood:
3	chr2:55126891..55127632-chr2:55402484..55403169,4	MCF-7	breast:
4	chr2:55127373..55130135-chr2:55130954..55133199,2	K562	blood:
5	chr2:55126697..55127637-chr2:55395567..55396788,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10164992	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10167789	1.00[ASN][1000 genomes]
rs10198957	1.00[ASN][1000 genomes]
rs13382720	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13387512	1.00[ASN][1000 genomes]
rs13422312	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046424	1.00[ASN][1000 genomes]
rs17346032	0.83[AFR][1000 genomes]
rs62136943	1.00[ASN][1000 genomes]
rs6545452	1.00[ASN][1000 genomes]
rs6545455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749322	0.82[GIH][hapmap]
rs7355428	1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[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	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55109200-55127600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:55120400-55130200	Weak transcription	Hela-S3	cervix
4	chr2:55122000-55130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:55123200-55128200	Weak transcription	HepG2	liver
6	chr2:55123400-55127600	Enhancers	Fetal Thymus	thymus
7	chr2:55123400-55130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:55125200-55127600	Enhancers	Fetal Brain Female	brain
9	chr2:55125400-55128800	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:55125800-55131000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:55126000-55130800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:55126000-55131000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:55126000-55131200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:55126200-55130800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:55126400-55128000	Enhancers	Fetal Muscle Leg	muscle
16	chr2:55126600-55127600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:55126600-55127800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:55126600-55128600	Enhancers	Brain Hippocampus Middle	brain
19	chr2:55126600-55129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:55126600-55129800	Enhancers	Fetal Intestine Large	intestine
21	chr2:55126800-55127600	Enhancers	Small Intestine	intestine
22	chr2:55126800-55127600	Enhancers	HSMMtube	muscle
23	chr2:55126800-55127600	Enhancers	NHDF-Ad	bronchial
24	chr2:55126800-55127800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:55126800-55127800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:55126800-55127800	Enhancers	Brain Substantia Nigra	brain
27	chr2:55126800-55127800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:55126800-55128000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:55126800-55128000	Enhancers	Brain Angular Gyrus	brain
30	chr2:55127000-55128000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:55127000-55130600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:55127000-55132400	Weak transcription	Fetal Brain Male	brain
33	chr2:55127200-55128000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:55127400-55127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:55127400-55127600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:55127400-55127600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:55127400-55127600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:55127400-55127600	Enhancers	Osteobl	bone
39	chr2:55127400-55127800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:55127400-55128000	Enhancers	Brain Anterior Caudate	brain
41	chr2:55127400-55128000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:55127400-55128000	Enhancers	NHEK	skin
43	chr2:55127400-55129200	Enhancers	Liver	Liver
44	chr2:55127400-55129600	Enhancers	Fetal Intestine Small	intestine

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