Variant report

Variant	rs10511669
Chromosome Location	chr9:19052562-19052563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:19049135..19050932-chr9:19052465..19054640,2	K562	blood:
2	chr9:19050026..19052622-chr9:19058219..19060617,2	K562	blood:
3	chr9:19051025..19055237-chr9:19064013..19066512,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147874	Chromatin interaction
ENSG00000155876	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10113939	0.80[ASN][1000 genomes]
rs10114769	0.80[ASN][1000 genomes]
rs10117076	1.00[JPT][hapmap]
rs10120860	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10124438	0.80[ASN][1000 genomes]
rs10511665	0.85[CEU][hapmap]
rs10511666	0.85[CEU][hapmap]
rs12002212	0.80[ASN][1000 genomes]
rs12341699	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12349511	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1932450	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1932455	0.85[CEU][hapmap]
rs4607710	0.85[CEU][hapmap]
rs62560458	0.83[AFR][1000 genomes]
rs62563560	0.83[AFR][1000 genomes]
rs62563586	0.83[AFR][1000 genomes]
rs62563589	0.83[AFR][1000 genomes]
rs62563590	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62563640	0.80[ASN][1000 genomes]
rs62563641	0.80[ASN][1000 genomes]
rs62563642	0.80[ASN][1000 genomes]
rs62563643	0.80[ASN][1000 genomes]
rs6475278	1.00[JPT][hapmap]
rs6475284	0.82[CEU][hapmap]
rs6475289	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs7019174	0.85[CEU][hapmap]
rs7024953	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7025019	0.85[CEU][hapmap]
rs7025316	0.85[CEU][hapmap]
rs7025416	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7033648	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7038785	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7041472	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7043607	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7467294	0.80[ASN][1000 genomes]
rs7847488	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7855439	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7860085	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs7864679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7866883	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7869183	0.80[ASN][1000 genomes]
rs7869414	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7875404	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv973452	chr9:19033958-19053096	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19050600-19052800	Flanking Active TSS	Fetal Brain Female	brain
2	chr9:19050600-19056600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:19050600-19060800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:19050600-19062600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:19050600-19063600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:19050600-19069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:19050800-19052600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
8	chr9:19050800-19052600	Enhancers	Small Intestine	intestine
9	chr9:19050800-19074200	Weak transcription	Lung	lung
10	chr9:19051000-19052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:19051000-19053400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:19051000-19056600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:19051000-19059000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:19051200-19052600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr9:19051200-19057000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:19051400-19052600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr9:19051400-19052800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:19051400-19052800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:19051400-19053000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr9:19051400-19053600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:19051400-19054400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:19051400-19054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:19051400-19055400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:19051400-19056600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:19051400-19056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:19051400-19056600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:19051400-19056600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:19051400-19056600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:19051400-19066400	Weak transcription	Colonic Mucosa	Colon
30	chr9:19051600-19052600	Enhancers	Primary B cells from peripheral blood	blood
31	chr9:19051600-19052600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:19051600-19052800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:19051600-19052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:19051600-19052800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
35	chr9:19051600-19052800	Enhancers	Fetal Brain Male	brain
36	chr9:19051600-19055200	Weak transcription	Placenta	Placenta
37	chr9:19051600-19055600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr9:19051600-19055800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:19051600-19056400	Weak transcription	Fetal Intestine Small	intestine
40	chr9:19051600-19056400	Weak transcription	Hela-S3	cervix
41	chr9:19051600-19056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr9:19051600-19056600	Weak transcription	Esophagus	oesophagus
43	chr9:19051600-19056600	Weak transcription	Fetal Intestine Large	intestine
44	chr9:19051600-19056600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr9:19051600-19056600	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:19051600-19056600	Weak transcription	Fetal Thymus	thymus
47	chr9:19051600-19074400	Weak transcription	Spleen	Spleen
48	chr9:19051600-19101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:19051800-19052600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:19051800-19052600	Genic enhancers	Brain Anterior Caudate	brain

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