Variant report

Variant	rs7012901
Chromosome Location	chr8:68235165-68235166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68234048..68236933-chr8:68252383..68255705,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs56244067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57551749	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7006064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72654940	0.83[EUR][1000 genomes]
rs72654945	0.83[EUR][1000 genomes]
rs72654947	0.83[EUR][1000 genomes]
rs72654949	0.83[EUR][1000 genomes]
rs72654952	0.86[AFR][1000 genomes]
rs9918764	0.81[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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7012901	CD300LG	trans	parietal	SCAN
rs7012901	CYP7B1	cis	parietal	SCAN
rs7012901	SNRPD1	trans	cerebellum	SCAN
rs7012901	TRIM55	cis	cerebellum	SCAN
rs7012901	PDE7A	cis	parietal	SCAN
rs7012901	ARFGEF1	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
2	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
3	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
4	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
5	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
9	chr8:68220400-68251800	Weak transcription	NHLF	lung
10	chr8:68220600-68236400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
12	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
14	chr8:68226000-68236400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:68226200-68236200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:68226200-68236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:68226400-68236400	Weak transcription	Adipose Nuclei	Adipose
18	chr8:68226400-68236400	Weak transcription	Brain Substantia Nigra	brain
19	chr8:68226400-68236400	Weak transcription	Gastric	stomach
20	chr8:68226400-68236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:68226400-68236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:68226400-68238000	Weak transcription	GM12878-XiMat	blood
23	chr8:68226400-68238600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:68226400-68238800	Weak transcription	Spleen	Spleen
25	chr8:68226400-68248800	Weak transcription	Fetal Lung	lung
26	chr8:68226400-68250200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
29	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:68226400-68252800	Weak transcription	NHEK	skin
31	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
33	chr8:68226600-68237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:68226600-68246800	Weak transcription	Liver	Liver
35	chr8:68226600-68248600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:68226600-68250400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:68226800-68248400	Weak transcription	Brain Germinal Matrix	brain
42	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea
45	chr8:68227000-68254600	Weak transcription	Thymus	Thymus
46	chr8:68227200-68236000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:68227200-68245200	Weak transcription	Fetal Intestine Small	intestine
48	chr8:68227200-68245400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:68227200-68245600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:68227200-68246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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