Variant report

Variant	rs11686912
Chromosome Location	chr2:55385576-55385577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55275586..55279731-chr2:55383502..55386447,3	K562	blood:
2	chr2:55366338..55369324-chr2:55384110..55386041,3	K562	blood:
3	chr2:55384078..55385579-chr2:55388774..55390849,2	MCF-7	breast:
4	chr2:55381461..55384180-chr2:55385114..55387794,2	MCF-7	breast:
5	chr2:55366570..55369324-chr2:55383738..55386041,2	K562	blood:
6	chr2:55272933..55279731-chr2:55382949..55387132,8	K562	blood:
7	chr2:55275348..55277918-chr2:55382981..55385901,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10496038	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs1134722	0.84[EUR][1000 genomes]
rs11677099	1.00[MEX][hapmap]
rs11686766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687876	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11692206	0.83[YRI][hapmap]
rs11894868	1.00[MEX][hapmap]
rs12619486	1.00[MEX][hapmap]
rs12989854	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995548	1.00[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13000786	0.84[EUR][1000 genomes]
rs13003020	0.89[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13012567	0.84[EUR][1000 genomes]
rs13014752	0.84[EUR][1000 genomes]
rs13017468	0.89[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs13032294	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13033042	1.00[MEX][hapmap]
rs2028139	0.89[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs34447956	0.84[EUR][1000 genomes]
rs35141050	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35183885	0.89[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs35227659	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35297827	0.83[EUR][1000 genomes]
rs35700883	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36121000	0.84[EUR][1000 genomes]
rs4318424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627623	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6719303	0.94[JPT][hapmap]
rs6742306	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6743339	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6747466	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71414544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71414545	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71414546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71414547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71414548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71414549	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71414556	0.84[EUR][1000 genomes]
rs71414557	0.84[EUR][1000 genomes]
rs7595814	0.88[CEU][hapmap];1.00[MEX][hapmap]

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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55378000-55386800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:55378000-55386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:55378200-55386200	Enhancers	Brain Hippocampus Middle	brain
4	chr2:55378200-55388000	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:55378200-55388800	Enhancers	Adipose Nuclei	Adipose
6	chr2:55378600-55385600	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:55378600-55386800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:55378600-55386800	Enhancers	Fetal Stomach	stomach
9	chr2:55378800-55385600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55378800-55386800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:55379400-55386600	Enhancers	Fetal Intestine Large	intestine
12	chr2:55379400-55387000	Enhancers	Fetal Intestine Small	intestine
13	chr2:55379600-55386800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:55380200-55386000	Enhancers	Hela-S3	cervix
15	chr2:55381000-55387800	Enhancers	Fetal Muscle Leg	muscle
16	chr2:55381000-55391000	Enhancers	Stomach Mucosa	stomach
17	chr2:55381200-55390600	Enhancers	Brain Angular Gyrus	brain
18	chr2:55381400-55385600	Enhancers	Brain Germinal Matrix	brain
19	chr2:55381600-55386800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:55381600-55386800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:55381800-55385600	Enhancers	NHEK	skin
22	chr2:55381800-55387200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:55382600-55386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:55383000-55385600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:55383000-55385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:55383400-55386600	Enhancers	Gastric	stomach
27	chr2:55383400-55386800	Enhancers	Left Ventricle	heart
28	chr2:55383400-55390000	Weak transcription	Fetal Kidney	kidney
29	chr2:55383600-55385600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:55383600-55386600	Enhancers	Small Intestine	intestine
31	chr2:55383600-55386800	Enhancers	Colon Smooth Muscle	Colon
32	chr2:55383600-55387200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:55383600-55388600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
35	chr2:55383800-55386000	Enhancers	NH-A	brain
36	chr2:55383800-55386800	Enhancers	Spleen	Spleen
37	chr2:55383800-55386800	Enhancers	NHDF-Ad	bronchial
38	chr2:55383800-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:55383800-55387000	Enhancers	Lung	lung
40	chr2:55383800-55387200	Enhancers	Right Atrium	heart
41	chr2:55383800-55387400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:55383800-55387600	Enhancers	Fetal Thymus	thymus
43	chr2:55383800-55388600	Enhancers	Brain Anterior Caudate	brain
44	chr2:55384000-55385800	Enhancers	HUVEC	blood vessel
45	chr2:55384000-55386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:55384000-55386800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:55384000-55386800	Enhancers	Osteobl	bone
48	chr2:55384000-55387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:55384000-55387000	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:55384000-55387600	Enhancers	HSMM	muscle

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