Variant report

Variant	rs11575404
Chromosome Location	chr7:50565963-50565964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:
2	chr7:50565140..50566781-chr7:50570058..50572270,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1107743	1.00[JPT][hapmap]
rs11575282	1.00[JPT][hapmap]
rs11575286	1.00[JPT][hapmap]
rs11575298	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11575300	1.00[ASN][1000 genomes]
rs11575301	1.00[ASN][1000 genomes]
rs11575313	1.00[JPT][hapmap]
rs11575321	1.00[JPT][hapmap]
rs11575322	1.00[JPT][hapmap]
rs11575342	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11575429	1.00[ASN][1000 genomes]
rs11575548	1.00[JPT][hapmap]
rs11575553	1.00[JPT][hapmap]
rs11765109	1.00[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs1349491	1.00[JPT][hapmap]
rs1466163	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17553036	1.00[JPT][hapmap]
rs17553791	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17634717	1.00[JPT][hapmap]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[JPT][hapmap]
rs17635123	1.00[JPT][hapmap]
rs2167368	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2242041	1.00[JPT][hapmap]
rs2329367	1.00[JPT][hapmap]
rs2715126	1.00[JPT][hapmap]
rs2876830	1.00[JPT][hapmap]
rs3177656	1.00[JPT][hapmap]
rs3807553	1.00[JPT][hapmap]
rs6593002	1.00[ASN][1000 genomes]
rs6952381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975015	1.00[ASN][1000 genomes]
rs6975747	1.00[ASN][1000 genomes]
rs73342846	1.00[ASN][1000 genomes]
rs7785984	1.00[ASN][1000 genomes]
rs7809234	1.00[ASN][1000 genomes]
rs963161	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv516640	chr7:50565963-50568735	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:50562800-50566000	Enhancers	Fetal Intestine Large	intestine
5	chr7:50562800-50566200	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:50562800-50566200	Genic enhancers	Fetal Intestine Small	intestine
7	chr7:50563600-50566200	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:50563800-50566000	Enhancers	Stomach Mucosa	stomach
9	chr7:50564000-50566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:50564000-50566200	Enhancers	Ovary	ovary
11	chr7:50564200-50566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:50564200-50566200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:50564400-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:50564400-50566200	Enhancers	Adipose Nuclei	Adipose
15	chr7:50564400-50566200	Enhancers	Small Intestine	intestine
16	chr7:50564600-50566000	Enhancers	NHDF-Ad	bronchial
17	chr7:50564600-50566200	Enhancers	NHEK	skin
18	chr7:50564800-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:50565000-50566600	Enhancers	HMEC	breast
20	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:50565200-50566200	Enhancers	K562	blood
23	chr7:50565200-50566800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50565200-50568600	Weak transcription	Gastric	stomach
25	chr7:50565200-50569800	Weak transcription	Right Atrium	heart
26	chr7:50565200-50570000	Weak transcription	Left Ventricle	heart
27	chr7:50565200-50570200	Weak transcription	Lung	lung
28	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:50565400-50566000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:50565400-50566400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:50565400-50568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:50565400-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:50565400-50570000	Weak transcription	Pancreas	Pancrea
35	chr7:50565400-50570000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:50565400-50570000	Enhancers	Hela-S3	cervix
37	chr7:50565600-50566000	Weak transcription	Colonic Mucosa	Colon
38	chr7:50565600-50566000	Weak transcription	Fetal Stomach	stomach
39	chr7:50565600-50566000	Weak transcription	Spleen	Spleen
40	chr7:50565600-50566400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:50565600-50569800	Weak transcription	Fetal Lung	lung
42	chr7:50565800-50566200	Enhancers	Psoas Muscle	Psoas
43	chr7:50565800-50566600	Enhancers	HUVEC	blood vessel
44	chr7:50565800-50569000	Strong transcription	HepG2	liver
45	chr7:50565800-50570000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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