Variant report

Variant	rs56947147
Chromosome Location	chr11:10515763-10515764
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	chr11:10511231..10513968-chr11:10515336..10517776,2	K562	blood:
2	chr11:10503278..10504991-chr11:10514976..10517004,2	K562	blood:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16907868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36003153	1.00[AMR][1000 genomes]
rs57397735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58465473	1.00[AMR][1000 genomes]
rs59697397	1.00[AMR][1000 genomes]
rs60018446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv553478	chr11:10508938-10523476	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518705	chr11:10510272-10518289	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv519987	chr11:10510272-10518977	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
4	chr11:10495600-10516400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
7	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:10498800-10522000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:10498800-10522200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:10499800-10523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
12	chr11:10502200-10522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
15	chr11:10504000-10517800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:10505400-10516200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
18	chr11:10509000-10517000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:10510000-10521800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:10510200-10520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:10510400-10524800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:10510400-10528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:10510600-10527800	Strong transcription	Thymus	Thymus
24	chr11:10510800-10528400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:10511000-10516400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:10511000-10529600	Strong transcription	Fetal Thymus	thymus
27	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:10511800-10516400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:10512000-10522600	Strong transcription	Primary B cells from cord blood	blood
30	chr11:10512400-10526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:10512400-10526800	Strong transcription	NHEK	skin
32	chr11:10512600-10516200	Weak transcription	Pancreas	Pancrea
33	chr11:10512600-10518800	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:10512600-10521200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:10512600-10521600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:10512600-10522600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:10512600-10523800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:10512600-10523800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:10512600-10525400	Weak transcription	GM12878-XiMat	blood
40	chr11:10512800-10516200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:10512800-10516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:10512800-10521000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:10512800-10521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:10512800-10526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
46	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
47	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
48	chr11:10513000-10516000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:10513000-10517000	Weak transcription	Fetal Intestine Large	intestine
50	chr11:10513000-10520200	Strong transcription	K562	blood

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