Variant report

Variant	rs12290033
Chromosome Location	chr11:102263187-102263188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102260144..102263667-chr11:102321245..102324805,3	K562	blood:
2	chr11:102260144..102264917-chr11:102321245..102324805,4	K562	blood:
3	chr11:102259066..102260980-chr11:102262717..102264518,2	MCF-7	breast:
4	chr11:102215581..102217934-chr11:102261718..102263770,2	K562	blood:

Variant related genes	Relation type
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1058606	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	0.90[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	0.85[EUR][1000 genomes]
rs11225222	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11225229	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11225235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	0.90[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	0.85[EUR][1000 genomes]
rs11225247	0.85[EUR][1000 genomes]
rs11225251	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11501342	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11501343	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11501344	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11547915	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604189	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	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605573	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	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271900	0.83[EUR][1000 genomes]
rs12273698	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275185	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	1.00[ASN][1000 genomes]
rs12277594	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	0.83[EUR][1000 genomes]
rs12277853	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279056	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282486	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291114	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293094	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12293834	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	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]
rs1574410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349689	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	0.83[EUR][1000 genomes]
rs1943781	1.00[ASN][1000 genomes]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35972941	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[ASN][1000 genomes]
rs485020	1.00[ASN][1000 genomes]
rs525305	1.00[ASN][1000 genomes]
rs531350	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[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	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61895376	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637708	1.00[ASN][1000 genomes]
rs670334	1.00[ASN][1000 genomes]
rs7104841	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	0.84[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]

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	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:102246200-102263800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:102246200-102267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
15	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
16	chr11:102247800-102263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:102248600-102265600	Strong transcription	NH-A	brain
18	chr11:102250600-102263800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:102250800-102264200	Weak transcription	Psoas Muscle	Psoas
20	chr11:102251000-102268400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:102251200-102267400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:102251400-102271200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:102254000-102268000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:102254400-102264400	Strong transcription	NHDF-Ad	bronchial
25	chr11:102254400-102265600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:102254600-102266400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:102254600-102267400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:102254800-102267400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:102255000-102267000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:102255600-102274800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:102256200-102267800	Weak transcription	Fetal Heart	heart
32	chr11:102257800-102267000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:102257800-102267200	Strong transcription	Primary T cells from cord blood	blood
34	chr11:102257800-102277800	Strong transcription	Fetal Thymus	thymus
35	chr11:102258000-102264000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:102258000-102265800	Strong transcription	Fetal Lung	lung
37	chr11:102258200-102265400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:102258200-102266600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:102258400-102263800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:102258400-102267600	Strong transcription	Osteobl	bone
41	chr11:102259400-102265400	Strong transcription	NHEK	skin
42	chr11:102259600-102265800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:102259800-102263800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:102259800-102266400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:102260000-102267000	Strong transcription	Fetal Intestine Small	intestine
46	chr11:102260200-102263800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:102260200-102267800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:102260400-102263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:102260400-102264000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:102260400-102268800	Weak transcription	HMEC	breast

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