Variant report

Variant	rs10500729
Chromosome Location	chr11:10644599-10644600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10643435..10646144-chr11:10650025..10653400,4	K562	blood:
2	chr11:10643731..10646144-chr11:10650025..10652236,2	K562	blood:
3	chr11:10625653..10628212-chr11:10643683..10646653,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10466518	0.85[EUR][1000 genomes]
rs10500730	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs11042843	1.00[CEU][hapmap]
rs11823069	0.85[EUR][1000 genomes]
rs11828221	0.85[EUR][1000 genomes]
rs16908075	0.93[EUR][1000 genomes]
rs16908086	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs16908093	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs35296427	0.92[EUR][1000 genomes]
rs56005304	0.85[EUR][1000 genomes]
rs57359868	0.92[EUR][1000 genomes]
rs57903840	0.85[EUR][1000 genomes]
rs58461960	0.85[EUR][1000 genomes]
rs724724	0.85[EUR][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10500729	SFN	trans	brain	seeQTL
rs10500729	FABP4	trans	brain	seeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10628600-10645600	Weak transcription	Brain Anterior Caudate	brain
2	chr11:10629400-10644600	Weak transcription	Esophagus	oesophagus
3	chr11:10629400-10650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:10629400-10663600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:10629600-10662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:10630800-10645200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:10633800-10647000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:10635800-10644800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:10635800-10645400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:10635800-10646000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:10637400-10646000	Weak transcription	Stomach Mucosa	stomach
12	chr11:10637800-10659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:10638800-10645400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:10639200-10644600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:10639600-10644800	Weak transcription	NHEK	skin
16	chr11:10639800-10644600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:10639800-10644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:10639800-10661600	Weak transcription	Gastric	stomach
19	chr11:10640400-10644800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:10640600-10645000	Weak transcription	Right Atrium	heart
21	chr11:10640600-10661400	Weak transcription	Left Ventricle	heart
22	chr11:10640800-10645000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:10641400-10644600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:10641400-10644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:10642600-10645000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:10642600-10647000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:10642800-10645000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:10642800-10645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:10642800-10645000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:10642800-10646600	Strong transcription	Fetal Stomach	stomach
31	chr11:10642800-10647000	Strong transcription	Aorta	Aorta
32	chr11:10642800-10647400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:10643000-10644600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:10643000-10644600	Strong transcription	Colon Smooth Muscle	Colon
35	chr11:10643000-10645600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:10643400-10644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:10643600-10645200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:10643600-10652400	Strong transcription	NHLF	lung
39	chr11:10643600-10653400	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:10643800-10645200	Strong transcription	Ovary	ovary
41	chr11:10643800-10647600	Enhancers	Primary B cells from cord blood	blood
42	chr11:10643800-10648200	Enhancers	Lung	lung
43	chr11:10644000-10644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:10644000-10659600	Weak transcription	Osteobl	bone
45	chr11:10644200-10645000	Enhancers	Spleen	Spleen
46	chr11:10644200-10646200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:10644200-10646200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:10644400-10646000	Enhancers	Thymus	Thymus
49	chr11:10644400-10646400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:10644400-10648000	Enhancers	Adipose Nuclei	Adipose

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