Variant report

Variant	rs2930188
Chromosome Location	chr11:47943482-47943483
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	chr11:47936350..47939236-chr11:47942544..47946300,3	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10769307	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838790	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11039473	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039480	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12270546	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272781	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12273589	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227997	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227999	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228000	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228002	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228004	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1228008	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228018	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1228019	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228020	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228021	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228022	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228023	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290628	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294218	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295364	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681604	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1681627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681631	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681637	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1729281	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1729294	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1729297	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697810	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930189	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930192	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2930195	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2950888	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4752883	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752886	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6485797	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104376	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7111419	0.88[ASN][1000 genomes]
rs7113640	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116080	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117644	0.87[EUR][1000 genomes]
rs7119280	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73462871	0.88[ASN][1000 genomes]
rs73462874	0.88[ASN][1000 genomes]
rs73462875	0.88[ASN][1000 genomes]
rs7928153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932759	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7941441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs900699	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
2	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:47935400-47944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47938400-47945600	Weak transcription	Left Ventricle	heart
6	chr11:47939000-47943600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:47939200-47944600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:47939400-47943800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:47939600-47944600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:47939600-47946600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:47939800-47945200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:47940000-47945200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:47940000-47945200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:47940200-47945200	Weak transcription	Adipose Nuclei	Adipose
15	chr11:47940200-47945200	Weak transcription	Fetal Heart	heart
16	chr11:47940200-47945200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:47940200-47950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:47940400-47945400	Weak transcription	Stomach Mucosa	stomach
19	chr11:47940600-47945200	Weak transcription	Fetal Lung	lung
20	chr11:47940600-47945200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:47940800-47945000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:47940800-47945200	Weak transcription	Fetal Stomach	stomach
23	chr11:47940800-47945200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:47941000-47944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47941000-47945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:47941000-47945200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:47941200-47944000	Weak transcription	Pancreas	Pancrea
28	chr11:47941200-47944200	Weak transcription	Lung	lung
29	chr11:47941200-47944800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47941200-47945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:47941200-47945000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:47941200-47945000	Weak transcription	NHLF	lung
33	chr11:47941200-47945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:47941200-47945200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:47941200-47945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:47941200-47945200	Weak transcription	HSMM	muscle
37	chr11:47941200-47945200	Weak transcription	HUVEC	blood vessel
38	chr11:47941200-47945400	Weak transcription	NH-A	brain
39	chr11:47941200-47945600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:47941200-47945800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:47941200-47945800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:47941400-47944000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:47941400-47944800	Weak transcription	Osteobl	bone
44	chr11:47941400-47945200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:47941400-47949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:47942200-47944800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:47942200-47944800	Weak transcription	NHDF-Ad	bronchial
48	chr11:47942200-47945200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47942200-47945200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:47942200-47945800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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