Variant report

Variant	rs11693023
Chromosome Location	chr2:11584267-11584268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11582548..11585072-chr2:11589512..11591069,2	K562	blood:
2	chr2:11578661..11580841-chr2:11582473..11584908,4	MCF-7	breast:
3	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:
4	chr2:11578835..11581557-chr2:11582606..11584299,2	K562	blood:
5	chr2:11584170..11586792-chr2:11598194..11600581,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10186511	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10192676	0.84[JPT][hapmap]
rs10929736	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs10929739	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs10929740	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10929742	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674593	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680919	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682602	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs11685543	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686138	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687178	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687681	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11691211	0.85[EUR][1000 genomes]
rs11694857	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12472962	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12611958	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12612948	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12613503	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs12614218	0.90[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs12615317	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617534	0.85[EUR][1000 genomes]
rs12988106	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12990560	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12994661	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12995996	0.95[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13007909	0.82[EUR][1000 genomes]
rs1369500	0.84[JPT][hapmap]
rs34514099	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35306821	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35423645	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35727311	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35818376	0.83[ASN][1000 genomes]
rs4292073	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4553788	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4588159	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs57197575	0.91[EUR][1000 genomes]
rs61016299	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432192	0.85[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs6432193	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432196	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6708001	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs6708015	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs6724463	0.84[JPT][hapmap]
rs6729114	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6751915	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7425786	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7556984	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7584175	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595697	0.93[EUR][1000 genomes]
rs9789694	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3460094	chr2:11583401-11588699	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
4	esv3460095	chr2:11583401-11588699	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas
2	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11575000-11584800	Weak transcription	Esophagus	oesophagus
4	chr2:11575600-11586800	Weak transcription	NHEK	skin
5	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
6	chr2:11576000-11586800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:11576600-11586600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:11576800-11585000	Weak transcription	Hela-S3	cervix
9	chr2:11576800-11586600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:11577000-11589200	Weak transcription	Small Intestine	intestine
11	chr2:11577400-11584400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11577600-11585000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
14	chr2:11577800-11586600	Weak transcription	NHDF-Ad	bronchial
15	chr2:11578200-11585200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11578600-11585000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:11578600-11587200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:11578600-11594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:11579000-11585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:11579000-11586800	Weak transcription	Stomach Mucosa	stomach
21	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:11579200-11585600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11579200-11594000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:11579400-11587200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:11579800-11590600	Strong transcription	Primary T cells from cord blood	blood
26	chr2:11580000-11585000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11580000-11585600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:11580000-11586600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:11580000-11593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:11580200-11588400	Weak transcription	Fetal Kidney	kidney
31	chr2:11580200-11588600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
33	chr2:11580400-11585200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:11580400-11591800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:11580400-11596000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:11580600-11584400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:11580600-11594000	Strong transcription	Placenta	Placenta
38	chr2:11580800-11586800	Weak transcription	Ovary	ovary
39	chr2:11581000-11596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:11581200-11597000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:11581400-11585400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:11581400-11585400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr2:11581600-11584400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr2:11581600-11585400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:11581800-11584400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr2:11581800-11584400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr2:11581800-11585000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:11581800-11585000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:11581800-11585200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:11581800-11589400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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