Variant report

Variant	rs12291114
Chromosome Location	chr11:102261549-102261550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102256750..102259635-chr11:102260009..102261641,2	K562	blood:
2	chr11:102261125..102262046-chr11:102365830..102366754,4	K562	blood:
3	chr11:102260144..102263667-chr11:102321245..102324805,3	K562	blood:
4	chr11:102260144..102264917-chr11:102321245..102324805,4	K562	blood:
5	chr11:102247349..102249796-chr11:102259275..102261867,2	K562	blood:
6	chr11:102261066..102261871-chr11:102365807..102366801,6	MCF-7	breast:
7	chr11:102246464..102249796-chr11:102259406..102262797,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10082693	1.00[YRI][hapmap]
rs10219215	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1058606	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10895296	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs11225217	1.00[YRI][hapmap]
rs11225222	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11225228	1.00[YRI][hapmap]
rs11225229	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11225235	1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225242	0.85[EUR][1000 genomes]
rs11225243	0.85[EUR][1000 genomes]
rs11225244	1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11225246	1.00[YRI][hapmap]
rs11225247	0.85[EUR][1000 genomes]
rs11225251	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11501342	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11501343	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11501344	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11547915	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547916	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601671	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604189	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605010	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605066	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605573	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12270723	1.00[YRI][hapmap]
rs12270893	1.00[YRI][hapmap]
rs12271457	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271900	0.83[EUR][1000 genomes]
rs12273698	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275185	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12277594	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs12277853	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278619	1.00[YRI][hapmap]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281328	1.00[YRI][hapmap]
rs12282486	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282509	1.00[YRI][hapmap]
rs12283885	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283923	1.00[YRI][hapmap]
rs12288938	1.00[YRI][hapmap]
rs12290033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290870	1.00[YRI][hapmap]
rs12291210	1.00[YRI][hapmap]
rs12291456	1.00[YRI][hapmap]
rs12293094	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12293834	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294170	1.00[YRI][hapmap]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1318199	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs13377312	1.00[YRI][hapmap]
rs1574410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097648	1.00[YRI][hapmap]
rs17349689	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1943781	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2436036	1.00[CHB][hapmap]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35972941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs525305	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs531350	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs57346058	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58250524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056981	0.83[EUR][1000 genomes]
rs61123589	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334418	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61895376	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs660908	1.00[CHB][hapmap]
rs670334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7104841	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114048	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971623	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102237000-102263800	Weak transcription	Small Intestine	intestine
3	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:102245600-102266200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:102246000-102261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:102246200-102261800	Weak transcription	Gastric	stomach
10	chr11:102246200-102263800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:102246200-102267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
17	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
18	chr11:102247800-102261800	Strong transcription	Liver	Liver
19	chr11:102247800-102263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:102248600-102265600	Strong transcription	NH-A	brain
21	chr11:102249600-102261600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:102250600-102263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:102250800-102262000	Weak transcription	Colonic Mucosa	Colon
24	chr11:102250800-102264200	Weak transcription	Psoas Muscle	Psoas
25	chr11:102251000-102268400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:102251200-102267400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:102251400-102271200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:102252000-102261600	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:102254000-102268000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:102254400-102264400	Strong transcription	NHDF-Ad	bronchial
31	chr11:102254400-102265600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:102254600-102266400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:102254600-102267400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:102254800-102267400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:102255000-102267000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:102255400-102262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:102255600-102274800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:102255800-102262000	Weak transcription	Esophagus	oesophagus
39	chr11:102255800-102262400	Weak transcription	Spleen	Spleen
40	chr11:102256200-102267800	Weak transcription	Fetal Heart	heart
41	chr11:102256400-102261600	Weak transcription	Right Ventricle	heart
42	chr11:102256400-102261800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:102256400-102261800	Weak transcription	HSMMtube	muscle
44	chr11:102256400-102262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:102256600-102261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:102257200-102261800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:102257600-102261800	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:102257800-102267000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:102257800-102267200	Strong transcription	Primary T cells from cord blood	blood
50	chr11:102257800-102277800	Strong transcription	Fetal Thymus	thymus

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