Variant report

Variant	rs507305
Chromosome Location	chr11:74594380-74594381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1315299	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1821352	0.80[AFR][1000 genomes]
rs491826	0.82[EUR][1000 genomes]
rs545202	0.82[AFR][1000 genomes]
rs650130	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs673731	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74562200-74595800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:74583200-74594600	Weak transcription	Hela-S3	cervix
3	chr11:74583200-74595200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:74583800-74595200	Weak transcription	Fetal Thymus	thymus
5	chr11:74583800-74598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:74584000-74594400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:74584000-74594600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:74584000-74594600	Weak transcription	Pancreas	Pancrea
9	chr11:74584800-74594400	Weak transcription	Thymus	Thymus
10	chr11:74584800-74594600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:74584800-74594600	Weak transcription	Fetal Kidney	kidney
12	chr11:74584800-74594600	Weak transcription	Small Intestine	intestine
13	chr11:74584800-74595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:74585000-74597800	Weak transcription	NHEK	skin
15	chr11:74585800-74594600	Weak transcription	Colonic Mucosa	Colon
16	chr11:74586000-74595200	Weak transcription	HSMMtube	muscle
17	chr11:74586200-74594600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:74586400-74604800	Weak transcription	Fetal Heart	heart
19	chr11:74587000-74594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:74587000-74594400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:74587000-74598600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:74587000-74600400	Weak transcription	HUVEC	blood vessel
23	chr11:74587200-74594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:74587400-74594600	Weak transcription	Esophagus	oesophagus
25	chr11:74587400-74598600	Weak transcription	Spleen	Spleen
26	chr11:74587400-74611800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:74587400-74629600	Weak transcription	Gastric	stomach
28	chr11:74587800-74594400	Weak transcription	Aorta	Aorta
29	chr11:74587800-74594400	Weak transcription	Lung	lung
30	chr11:74587800-74594400	Weak transcription	Ovary	ovary
31	chr11:74587800-74594600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:74587800-74594600	Weak transcription	Fetal Stomach	stomach
33	chr11:74587800-74594600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:74587800-74597800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:74587800-74598600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:74588000-74594400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:74588000-74594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:74588000-74594600	Weak transcription	Fetal Brain Male	brain
39	chr11:74588000-74595200	Weak transcription	Left Ventricle	heart
40	chr11:74588000-74597200	Weak transcription	Psoas Muscle	Psoas
41	chr11:74588200-74594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:74588200-74594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:74588200-74594600	Weak transcription	Primary T cells from cord blood	blood
44	chr11:74588200-74594600	Weak transcription	Brain Angular Gyrus	brain
45	chr11:74588200-74594600	Weak transcription	Brain Anterior Caudate	brain
46	chr11:74588200-74595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:74588400-74594400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:74588400-74594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:74588400-74594400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:74588400-74594400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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