Variant report

Variant	rs11592691
Chromosome Location	chr10:94066343-94066344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94055420..94057714-chr10:94063386..94066356,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11594722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11595822	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17107472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17107539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149631	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94052000-94111800	Weak transcription	Gastric	stomach
2	chr10:94052200-94071000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:94052200-94109400	Weak transcription	Esophagus	oesophagus
4	chr10:94052400-94070800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:94052400-94080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:94052400-94101200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:94052400-94101600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:94052400-94108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:94052400-94114600	Weak transcription	Colonic Mucosa	Colon
10	chr10:94052600-94068200	Weak transcription	Small Intestine	intestine
11	chr10:94052600-94070800	Weak transcription	NHDF-Ad	bronchial
12	chr10:94052600-94071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:94052600-94077200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:94052600-94102000	Weak transcription	NHLF	lung
15	chr10:94052600-94109400	Weak transcription	HSMMtube	muscle
16	chr10:94052800-94072000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:94052800-94072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:94052800-94087400	Weak transcription	K562	blood
19	chr10:94052800-94088600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:94053000-94070800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr10:94053200-94071400	Weak transcription	HMEC	breast
22	chr10:94053200-94074600	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:94053200-94086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:94053400-94109400	Weak transcription	Fetal Brain Male	brain
25	chr10:94054400-94077400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:94054600-94070800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:94054600-94071000	Weak transcription	NH-A	brain
28	chr10:94054600-94071600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:94054600-94101400	Weak transcription	HSMM	muscle
30	chr10:94054800-94068000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:94054800-94070800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:94054800-94072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:94054800-94087200	Weak transcription	NHEK	skin
34	chr10:94055000-94080600	Weak transcription	Hela-S3	cervix
35	chr10:94055800-94067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:94056800-94080600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:94056800-94087600	Weak transcription	A549	lung
38	chr10:94057200-94068000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:94057200-94073800	Weak transcription	Right Atrium	heart
40	chr10:94057400-94072800	Weak transcription	Lung	lung
41	chr10:94058800-94068000	Weak transcription	Ovary	ovary
42	chr10:94059000-94068000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr10:94059200-94070800	Weak transcription	Fetal Brain Female	brain
44	chr10:94059800-94066600	Weak transcription	Thymus	Thymus
45	chr10:94060000-94071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:94060200-94070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:94060600-94071000	Weak transcription	HUVEC	blood vessel
48	chr10:94061200-94070600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:94061200-94070600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:94061200-94071400	Weak transcription	Fetal Lung	lung

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