Variant report

Variant	rs2724631
Chromosome Location	chr12:11810846-11810847
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	chr12:11808714..11811317-chr12:11811716..11813257,2	K562	blood:
2	chr12:11809727..11811317-chr12:11811716..11813734,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1861482	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs2111049	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs2541128	0.83[CEU][hapmap];0.91[MEX][hapmap]
rs2724590	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs2724626	0.91[CEU][hapmap]
rs2856313	0.91[CEU][hapmap]
rs4763714	0.87[EUR][1000 genomes]
rs7976864	0.87[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2724631	ETV6	cis	lesional skin	skin_eQTL
rs2724631	ETV6	cis	normal skin	skin_eQTL
rs2724631	MGP	cis	cerebellum	SCAN
rs2724631	RIMKLB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11804200-11814000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:11806000-11812800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:11806000-11813000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:11806000-11813600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:11806000-11814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
8	chr12:11806400-11811400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:11806400-11811400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:11806400-11811400	Weak transcription	NHDF-Ad	bronchial
11	chr12:11806400-11811600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:11806400-11811800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:11806400-11813200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:11806400-11814000	Weak transcription	Colonic Mucosa	Colon
15	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:11806600-11811400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:11806600-11811400	Weak transcription	HSMMtube	muscle
18	chr12:11806600-11811600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:11806600-11811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:11806600-11811800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:11806600-11812000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:11806600-11813000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:11806600-11813800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:11806600-11814000	Weak transcription	Gastric	stomach
25	chr12:11806600-11814400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:11806600-11814400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:11806600-11814600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:11806600-11819200	Weak transcription	NHLF	lung
29	chr12:11806800-11811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:11807000-11811400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:11807000-11811800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:11807000-11814400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:11807400-11811400	Weak transcription	HSMM	muscle
34	chr12:11807400-11813600	Weak transcription	Small Intestine	intestine
35	chr12:11807600-11811600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:11807600-11814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:11807800-11811400	Weak transcription	Fetal Stomach	stomach
38	chr12:11807800-11812400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:11807800-11812600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
41	chr12:11808000-11811000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:11808000-11811800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:11808000-11812600	Weak transcription	Lung	lung
44	chr12:11808000-11814000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:11808000-11814200	Weak transcription	Psoas Muscle	Psoas
46	chr12:11808200-11811400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:11808200-11814000	Weak transcription	Esophagus	oesophagus
48	chr12:11808600-11811200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:11808600-11811400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:11808600-11812800	Genic enhancers	Dnd41	blood

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