Variant report

Variant	rs1961543
Chromosome Location	chr11:32937572-32937573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:32931627..32937839-chr11:32937972..32943855,8	K562	blood:
2	chr11:32911547..32917607-chr11:32930395..32938117,12	K562	blood:
3	chr11:32933148..32935266-chr11:32937418..32940169,3	K562	blood:

Variant related genes	Relation type
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10767973	0.89[AMR][1000 genomes]
rs10835991	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11032074	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1961248	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092657	0.84[AMR][1000 genomes]
rs2249555	0.85[AMR][1000 genomes]
rs2746037	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2786800	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4755476	0.87[AMR][1000 genomes]
rs4756355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4756373	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4756385	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs589450	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs602126	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6484610	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs652963	0.85[AMR][1000 genomes]
rs7104368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7108574	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7128509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73474587	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7395190	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7481844	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7481878	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32916000-32953200	Weak transcription	Pancreas	Pancrea
2	chr11:32916200-32953200	Weak transcription	Right Ventricle	heart
3	chr11:32916400-32940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:32916400-32952800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:32916400-32953200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:32916400-32953400	Weak transcription	NHLF	lung
7	chr11:32916400-32953600	Weak transcription	NHDF-Ad	bronchial
8	chr11:32916600-32940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:32917000-32952800	Weak transcription	Primary B cells from cord blood	blood
10	chr11:32917400-32951000	Weak transcription	HSMM	muscle
11	chr11:32917400-32953000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:32917600-32952800	Weak transcription	Fetal Stomach	stomach
13	chr11:32918000-32953200	Weak transcription	Fetal Brain Female	brain
14	chr11:32918600-32953600	Weak transcription	Fetal Brain Male	brain
15	chr11:32919600-32953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:32921200-32952800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:32921200-32953200	Weak transcription	Primary T cells from cord blood	blood
18	chr11:32921400-32951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:32921600-32939800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:32921600-32940800	Weak transcription	Small Intestine	intestine
21	chr11:32921800-32940200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:32921800-32941400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:32921800-32950800	Weak transcription	Fetal Thymus	thymus
24	chr11:32922600-32940800	Weak transcription	Fetal Intestine Large	intestine
25	chr11:32922600-32951200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:32922800-32952800	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:32924000-32952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:32924000-32952800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:32924000-32953200	Weak transcription	Left Ventricle	heart
30	chr11:32924400-32939400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:32924400-32939800	Weak transcription	HMEC	breast
32	chr11:32924400-32949600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:32924400-32951200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:32924600-32939600	Weak transcription	NHEK	skin
35	chr11:32925000-32939600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:32926400-32952800	Weak transcription	Ovary	ovary
37	chr11:32926800-32951000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:32927000-32939600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:32927200-32953200	Weak transcription	Fetal Heart	heart
40	chr11:32927400-32939600	Weak transcription	Fetal Lung	lung
41	chr11:32927400-32951200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:32927400-32953400	Weak transcription	Fetal Kidney	kidney
43	chr11:32928200-32952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:32928400-32947200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:32930000-32939600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:32930600-32951200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:32931800-32939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:32932400-32946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:32932600-32939600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:32932800-32940200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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