Variant report

Variant	rs8211
Chromosome Location	chr10:94819053-94819054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr10:94818531-94819235	ECC-1	luminal epithelium:	n/a	n/a
2	STAT3	chr10:94819043-94819243	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94747646..94749264-chr10:94816828..94819755,2	K562	blood:
2	chr10:94809589..94812648-chr10:94815329..94819605,4	K562	blood:

Variant related genes	Relation type
CYP26C1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10748584	0.93[CHB][hapmap]
rs10748589	0.90[ASN][1000 genomes]
rs10786059	0.93[CHB][hapmap]
rs10786060	0.93[CHB][hapmap]
rs10786065	0.84[ASN][1000 genomes]
rs10786066	0.88[ASN][1000 genomes]
rs10786067	0.90[ASN][1000 genomes]
rs10882121	0.93[CHB][hapmap]
rs10882123	0.93[CHB][hapmap]
rs10882125	0.93[CHB][hapmap]
rs10882129	0.93[CHB][hapmap]
rs11187256	0.88[EUR][1000 genomes]
rs11187262	0.82[ASW][hapmap];0.88[CEU][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs12256889	0.83[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12263369	0.91[EUR][1000 genomes]
rs1339821	0.82[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs1571034	0.93[CHB][hapmap]
rs1987017	0.93[CHB][hapmap]
rs2297918	0.92[EUR][1000 genomes]
rs2478236	0.88[EUR][1000 genomes]
rs2486681	0.89[EUR][1000 genomes]
rs2486684	0.89[EUR][1000 genomes]
rs3736936	0.84[ASN][1000 genomes]
rs4411227	0.80[JPT][hapmap]
rs4508117	0.93[CHB][hapmap]
rs4568938	0.88[ASN][1000 genomes]
rs4919594	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4933753	0.93[CHB][hapmap]
rs55843714	0.91[EUR][1000 genomes]
rs7068232	0.93[CHB][hapmap]
rs7068500	0.88[ASN][1000 genomes]
rs7095772	0.93[CHB][hapmap]
rs7096857	0.90[ASN][1000 genomes]
rs7895716	0.88[ASN][1000 genomes]
rs7910006	0.93[CHB][hapmap]
rs7914571	0.93[CHB][hapmap]
rs7915463	0.86[CHB][hapmap]
rs7922067	0.82[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs835238	0.93[CHB][hapmap]
rs835273	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs835276	0.90[EUR][1000 genomes]
rs835278	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs856534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9633694	0.93[CHB][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	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8211	SLC16A12	cis	cerebellum	SCAN
rs8211	CYP2C9	cis	cerebellum	SCAN
rs8211	BTAF1	cis	cerebellum	SCAN
rs8211	PDLIM1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94713200-94819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94788000-94819400	Weak transcription	Left Ventricle	heart
3	chr10:94792600-94819600	Weak transcription	Aorta	Aorta
4	chr10:94792600-94819800	Weak transcription	HSMMtube	muscle
5	chr10:94795800-94819600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:94801800-94820200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:94804000-94819800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:94804200-94821000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:94806200-94821000	Weak transcription	Gastric	stomach
10	chr10:94807800-94819800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:94808000-94821000	Weak transcription	Pancreas	Pancrea
12	chr10:94809000-94819400	Weak transcription	Spleen	Spleen
13	chr10:94811800-94825000	Weak transcription	HepG2	liver
14	chr10:94812000-94819200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:94816000-94819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:94816200-94819800	Weak transcription	Placenta	Placenta
17	chr10:94816400-94819600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr10:94816600-94820000	Strong transcription	HUVEC	blood vessel
19	chr10:94816600-94821200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:94817200-94819400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr10:94817200-94819600	Weak transcription	Lung	lung
22	chr10:94817600-94819600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:94817600-94821200	Strong transcription	Dnd41	blood
24	chr10:94818000-94819200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr10:94818000-94822800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:94818200-94819400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:94818400-94819400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr10:94818400-94819400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr10:94818400-94820000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:94818400-94821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:94818400-94821200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:94818800-94820000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:94818800-94821000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr10:94818800-94821000	Weak transcription	A549	lung
35	chr10:94819000-94819600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr10:94819000-94820000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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