Variant report

Variant	rs640927
Chromosome Location	chr11:75344906-75344907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs512500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656007	0.90[MEX][hapmap]
rs663515	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs640927	RAB6A	cis	cerebellum	SCAN
rs640927	RELT	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:75330000-75350800	Weak transcription	Lung	lung
4	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
5	chr11:75335400-75346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:75338000-75346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:75338800-75346400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:75339000-75350400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:75339200-75346400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:75339200-75346600	Weak transcription	Spleen	Spleen
11	chr11:75339400-75346200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:75339600-75345600	Weak transcription	Ovary	ovary
13	chr11:75340000-75352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:75341200-75345600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:75341400-75348200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:75342200-75349800	Enhancers	Fetal Brain Male	brain
17	chr11:75342600-75346000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:75342800-75346200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:75342800-75347200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:75343000-75347800	Enhancers	Fetal Intestine Small	intestine
21	chr11:75343200-75346200	Enhancers	Brain Germinal Matrix	brain
22	chr11:75343400-75346600	Enhancers	Fetal Brain Female	brain
23	chr11:75343600-75346400	Weak transcription	Right Atrium	heart
24	chr11:75343800-75346600	Weak transcription	K562	blood
25	chr11:75343800-75347800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:75344000-75345000	Enhancers	HSMMtube	muscle
27	chr11:75344000-75345200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:75344000-75347400	Enhancers	Fetal Intestine Large	intestine
29	chr11:75344200-75348000	Enhancers	Fetal Stomach	stomach
30	chr11:75344400-75345200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:75344400-75345200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:75344400-75345200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:75344400-75346200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75344600-75345000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:75344600-75345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:75344600-75345200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:75344600-75345200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:75344600-75345200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:75344600-75345200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:75344600-75345200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr11:75344800-75345000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:75344800-75345200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:75344800-75345200	Enhancers	Fetal Heart	heart
44	chr11:75344800-75347200	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:75344800-75348000	Enhancers	Fetal Lung	lung
46	chr11:75344800-75348400	Enhancers	Cortex derived primary cultured neurospheres	brain

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