Variant report

Variant	rs7112214
Chromosome Location	chr11:121177486-121177487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121173775..121175473-chr11:121177046..121178773,2	K562	blood:

Variant related genes	Relation type
ENSG00000109929	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10502248	1.00[EUR][1000 genomes]
rs11606279	1.00[EUR][1000 genomes]
rs12278183	1.00[EUR][1000 genomes]
rs17124838	1.00[EUR][1000 genomes]
rs17124943	1.00[EUR][1000 genomes]
rs17125003	1.00[EUR][1000 genomes]
rs17125005	1.00[EUR][1000 genomes]
rs17125007	1.00[EUR][1000 genomes]
rs17125013	1.00[EUR][1000 genomes]
rs17125022	1.00[ASN][1000 genomes]
rs17125066	1.00[EUR][1000 genomes]
rs2077203	1.00[EUR][1000 genomes]
rs56068090	1.00[EUR][1000 genomes]
rs57169355	1.00[EUR][1000 genomes]
rs57946918	1.00[ASN][1000 genomes]
rs58182842	1.00[ASN][1000 genomes]
rs59174011	1.00[EUR][1000 genomes]
rs59976776	1.00[EUR][1000 genomes]
rs60234153	1.00[ASN][1000 genomes]
rs626945	1.00[EUR][1000 genomes]
rs649404	1.00[EUR][1000 genomes]
rs667418	1.00[EUR][1000 genomes]
rs7103341	1.00[EUR][1000 genomes]
rs7120718	1.00[EUR][1000 genomes]
rs7122846	1.00[EUR][1000 genomes]
rs73583180	1.00[EUR][1000 genomes]
rs73583183	1.00[EUR][1000 genomes]
rs73583186	1.00[EUR][1000 genomes]
rs73583187	1.00[EUR][1000 genomes]
rs73583191	1.00[EUR][1000 genomes]
rs73583193	1.00[EUR][1000 genomes]
rs73583199	1.00[EUR][1000 genomes]
rs73584905	1.00[EUR][1000 genomes]
rs73584909	1.00[EUR][1000 genomes]
rs73584914	1.00[EUR][1000 genomes]
rs73584917	1.00[EUR][1000 genomes]
rs73592731	1.00[EUR][1000 genomes]
rs73592747	1.00[EUR][1000 genomes]
rs73592754	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592762	1.00[ASN][1000 genomes]
rs73592766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596704	1.00[EUR][1000 genomes]
rs73599482	1.00[EUR][1000 genomes]
rs73599484	1.00[EUR][1000 genomes]
rs73599490	1.00[EUR][1000 genomes]
rs73599492	1.00[EUR][1000 genomes]
rs73601425	1.00[EUR][1000 genomes]
rs763681	1.00[EUR][1000 genomes]
rs7924615	1.00[EUR][1000 genomes]
rs7926577	1.00[EUR][1000 genomes]
rs7932909	1.00[EUR][1000 genomes]
rs7942732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946427	1.00[EUR][1000 genomes]
rs891435	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr11:121164000-121181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:121164200-121179600	Weak transcription	Spleen	Spleen
3	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
4	chr11:121164400-121177600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:121164400-121179400	Weak transcription	Colonic Mucosa	Colon
6	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
7	chr11:121164600-121177600	Weak transcription	Aorta	Aorta
8	chr11:121164600-121180200	Weak transcription	K562	blood
9	chr11:121164800-121182000	Weak transcription	A549	lung
10	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:121171600-121177800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:121171600-121179600	Weak transcription	Gastric	stomach
13	chr11:121171600-121181600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:121171600-121181800	Weak transcription	Pancreas	Pancrea
15	chr11:121171600-121182000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:121171600-121189600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:121171800-121177800	Weak transcription	Fetal Heart	heart
18	chr11:121171800-121179800	Weak transcription	Small Intestine	intestine
19	chr11:121171800-121190200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:121172400-121178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:121172600-121180600	Strong transcription	Dnd41	blood
22	chr11:121172600-121182000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:121172800-121180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:121173200-121180200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:121173200-121180600	Strong transcription	HMEC	breast
26	chr11:121173200-121181200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:121173400-121180600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:121173400-121180800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:121173400-121180800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:121173400-121181000	Strong transcription	HSMMtube	muscle
31	chr11:121173600-121178800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr11:121173600-121178800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:121173600-121180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:121173600-121180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:121173800-121179400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:121173800-121179400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:121173800-121179600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:121173800-121180200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:121173800-121180800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:121174000-121179800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:121174000-121179800	Strong transcription	GM12878-XiMat	blood
42	chr11:121174000-121180000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:121174000-121180800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:121174000-121180800	Strong transcription	HSMM	muscle
45	chr11:121174000-121181000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:121174200-121179000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:121174200-121180200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:121174200-121180800	Strong transcription	Adipose Nuclei	Adipose
49	chr11:121174200-121180800	Strong transcription	Liver	Liver
50	chr11:121174400-121179400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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