Variant report

Variant	rs594967
Chromosome Location	chr11:57507227-57507228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57431371..57436913-chr11:57505728..57511660,10	K562	blood:
2	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
3	chr11:57434290..57436913-chr11:57507221..57510395,5	K562	blood:
4	chr11:57478353..57481972-chr11:57506953..57510365,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254462	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000156603	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10128604	0.88[YRI][hapmap]
rs11229145	1.00[YRI][hapmap]
rs12271969	1.00[YRI][hapmap]
rs12292647	0.87[YRI][hapmap]
rs17152027	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
2	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
3	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:57482400-57508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:57482400-57508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:57482600-57508000	Weak transcription	Small Intestine	intestine
11	chr11:57486000-57508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:57492000-57508200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:57496600-57508400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:57500000-57508400	Weak transcription	HUVEC	blood vessel
15	chr11:57500200-57508000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:57500200-57508000	Strong transcription	Fetal Stomach	stomach
17	chr11:57500800-57507600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:57500800-57508000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:57501200-57507400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:57501200-57507800	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:57501400-57507400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:57501600-57508000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:57501800-57508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57503000-57507600	Strong transcription	HSMM	muscle
25	chr11:57503000-57507800	Strong transcription	Fetal Thymus	thymus
26	chr11:57503000-57508200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:57503200-57507600	Strong transcription	Primary T cells from cord blood	blood
28	chr11:57503400-57508400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:57504000-57508000	Weak transcription	Fetal Heart	heart
30	chr11:57504000-57508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:57504000-57508400	Weak transcription	Stomach Mucosa	stomach
32	chr11:57504200-57507400	Strong transcription	K562	blood
33	chr11:57504200-57507800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:57504200-57507800	Strong transcription	Placenta	Placenta
35	chr11:57504400-57508200	Strong transcription	NHEK	skin
36	chr11:57504600-57507600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:57504600-57507800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:57504800-57507400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:57504800-57507400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:57504800-57507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:57504800-57507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:57504800-57507600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr11:57504800-57507600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:57504800-57507800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57504800-57507800	Strong transcription	HepG2	liver
46	chr11:57504800-57508000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:57504800-57508000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:57504800-57508000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:57505000-57507400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:57505000-57507400	Strong transcription	Primary B cells from peripheral blood	blood

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