Variant report

Variant	rs12692976
Chromosome Location	chr2:172684403-172684404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172679219..172682051-chr2:172683706..172687568,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1010533	0.91[AFR][1000 genomes]
rs2056202	0.82[LWK][hapmap]
rs2357206	0.82[LWK][hapmap]
rs3821095	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711813	0.85[LWK][hapmap]
rs7580232	0.83[LWK][hapmap]

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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12692976	B3GALT1	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
7	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
9	chr2:172649000-172687400	Weak transcription	Gastric	stomach
10	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:172650400-172687600	Weak transcription	Lung	lung
12	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
13	chr2:172655400-172687400	Weak transcription	A549	lung
14	chr2:172655600-172687400	Weak transcription	NH-A	brain
15	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
18	chr2:172664200-172687400	Weak transcription	K562	blood
19	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
20	chr2:172664600-172687400	Weak transcription	NHEK	skin
21	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:172664800-172687600	Weak transcription	HMEC	breast
23	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
24	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:172666600-172685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:172667000-172687400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:172667600-172686800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:172667800-172685200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:172667800-172685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:172667800-172687200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:172667800-172687400	Weak transcription	NHLF	lung
32	chr2:172668200-172687400	Weak transcription	Fetal Kidney	kidney
33	chr2:172670200-172684600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:172670200-172687400	Weak transcription	HSMMtube	muscle
35	chr2:172671800-172684600	Weak transcription	Ovary	ovary
36	chr2:172671800-172684600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:172671800-172685400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:172671800-172686200	Weak transcription	Right Ventricle	heart
39	chr2:172675400-172686200	Weak transcription	HSMM	muscle
40	chr2:172675400-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:172676800-172685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:172679400-172687400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:172680400-172685400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:172680800-172687200	Weak transcription	Osteobl	bone
45	chr2:172680800-172687400	Weak transcription	Placenta	Placenta
46	chr2:172680800-172688800	Weak transcription	Psoas Muscle	Psoas
47	chr2:172681000-172685400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:172681000-172695000	Weak transcription	Pancreas	Pancrea
49	chr2:172681200-172687400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:172681600-172687000	Strong transcription	GM12878-XiMat	blood

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