Variant report

Variant	rs870397
Chromosome Location	chr8:49861225-49861226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11515036	0.83[AMR][1000 genomes]
rs12682003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13277226	0.85[ASN][1000 genomes]
rs13279837	0.82[AFR][1000 genomes]
rs1441004	0.83[AMR][1000 genomes]
rs17641604	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837690	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992375	0.91[GIH][hapmap];0.83[AMR][1000 genomes]
rs2203065	0.81[AMR][1000 genomes];0.84[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	esv3328866	chr8:49858699-49862897	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs870397	EFCAB1	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49859800-49865000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr8:49860000-49864800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:49860200-49861800	Enhancers	Primary T cells from cord blood	blood
4	chr8:49860200-49864400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr8:49860200-49864400	Enhancers	Thymus	Thymus
6	chr8:49860200-49864800	Enhancers	Dnd41	blood
7	chr8:49860200-49865000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:49860200-49866000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:49860400-49861800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:49860400-49862200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:49860400-49864400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:49860400-49864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:49860400-49864800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:49860400-49865200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:49860600-49861800	Enhancers	GM12878-XiMat	blood
16	chr8:49860600-49864800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:49860600-49864800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:49860800-49864400	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:49860800-49864400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:49861000-49862000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:49861000-49862200	Weak transcription	Esophagus	oesophagus
22	chr8:49861000-49862200	Weak transcription	Pancreas	Pancrea
23	chr8:49861000-49863400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:49861000-49863400	Weak transcription	Spleen	Spleen
25	chr8:49861000-49863800	Enhancers	Fetal Thymus	thymus
26	chr8:49861000-49865400	Weak transcription	Gastric	stomach
27	chr8:49861200-49861400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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