Variant report

Variant	rs11250120
Chromosome Location	chr8:11055020-11055021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11053117..11055085-chr8:11056263..11058043,2	K562	blood:
2	chr8:11042275..11044106-chr8:11054861..11057806,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10100449	1.00[CHB][hapmap]
rs10107853	0.89[ASN][1000 genomes]
rs10108304	1.00[CHB][hapmap]
rs10110123	1.00[CHB][hapmap]
rs10111751	1.00[CHB][hapmap]
rs10282848	1.00[CHB][hapmap]
rs11250110	1.00[CHB][hapmap]
rs11250111	1.00[CHB][hapmap]
rs11784312	1.00[CHB][hapmap]
rs11785788	1.00[CHB][hapmap]
rs11986748	1.00[CHB][hapmap]
rs11991121	1.00[CHB][hapmap]
rs11996027	1.00[CHB][hapmap]
rs11998417	1.00[CHB][hapmap]
rs12216784	1.00[CHB][hapmap]
rs12547627	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152862	1.00[CHB][hapmap]
rs17152881	1.00[CHB][hapmap]
rs17152921	1.00[CHB][hapmap]
rs17152930	1.00[CHB][hapmap]
rs17152938	1.00[CHB][hapmap]
rs17152978	1.00[CHB][hapmap]
rs17722940	1.00[CHB][hapmap]
rs17725809	1.00[CHB][hapmap]
rs17726352	1.00[CHB][hapmap]
rs17779093	1.00[CHB][hapmap]
rs2409732	1.00[CHB][hapmap]
rs2898254	1.00[CHB][hapmap]
rs2898258	1.00[CHB][hapmap]
rs4074356	1.00[CHB][hapmap]
rs4076425	1.00[CHB][hapmap]
rs4270924	1.00[CHB][hapmap]
rs4349949	1.00[CHB][hapmap]
rs4370496	1.00[CHB][hapmap]
rs4386942	1.00[CHB][hapmap]
rs56368704	0.85[ASN][1000 genomes]
rs6601550	1.00[CHB][hapmap]
rs6983680	1.00[CHB][hapmap]
rs6994928	1.00[CHB][hapmap]
rs6999969	1.00[CHB][hapmap]
rs7000298	1.00[CHB][hapmap]
rs7000431	1.00[CHB][hapmap]
rs7010099	1.00[CHB][hapmap]
rs7010126	1.00[CHB][hapmap]
rs7014291	1.00[CHB][hapmap]
rs7016361	1.00[CHB][hapmap]
rs7350066	1.00[CHB][hapmap]
rs7350072	1.00[CHB][hapmap]
rs73532835	0.89[ASN][1000 genomes]
rs73532838	0.89[ASN][1000 genomes]
rs73532843	0.89[ASN][1000 genomes]
rs7820777	1.00[CHB][hapmap]
rs7822400	1.00[CHB][hapmap]
rs7838051	1.00[CHB][hapmap]
rs7840980	1.00[CHB][hapmap]
rs7841435	1.00[CHB][hapmap]
rs7845088	1.00[CHB][hapmap]
rs9329237	1.00[CHB][hapmap]
rs9329239	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
5	chr8:11035800-11056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:11042800-11056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11045200-11057000	Weak transcription	Fetal Stomach	stomach
8	chr8:11045600-11056000	Weak transcription	NHEK	skin
9	chr8:11046400-11056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:11046600-11056600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:11049000-11056800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:11050400-11057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:11050600-11056400	Weak transcription	Small Intestine	intestine
14	chr8:11052400-11057000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:11053600-11057000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:11053800-11055200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:11053800-11055400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:11053800-11055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:11053800-11056000	Enhancers	HSMMtube	muscle
20	chr8:11053800-11056400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:11054000-11055200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11054000-11056000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:11054200-11055400	Enhancers	Brain Germinal Matrix	brain
24	chr8:11054200-11055600	Enhancers	HSMM	muscle
25	chr8:11054200-11056000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:11054200-11056200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:11054200-11056400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:11054200-11057000	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:11054200-11057200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:11054400-11055200	Enhancers	Brain Anterior Caudate	brain
31	chr8:11054400-11055400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:11054400-11055400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:11054400-11055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:11054400-11055600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:11054400-11056000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:11054400-11056000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:11054400-11057000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:11054600-11055200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:11054600-11055200	Enhancers	Brain Angular Gyrus	brain
40	chr8:11054600-11055200	Enhancers	NHDF-Ad	bronchial
41	chr8:11054600-11055400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:11054600-11055400	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:11054600-11055400	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:11054600-11055400	Flanking Active TSS	NH-A	brain
45	chr8:11054600-11055600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:11054600-11055800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:11054600-11055800	Enhancers	Fetal Brain Female	brain
48	chr8:11054600-11056200	Enhancers	HUVEC	blood vessel
49	chr8:11054800-11055200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr8:11054800-11055200	Enhancers	Osteobl	bone

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