Variant report

Variant	rs1383176
Chromosome Location	chr8:118666943-118666944
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118666783..118669517-chr8:118670743..118673138,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089009	0.84[EUR][1000 genomes]
rs10093232	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093382	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10108248	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955822	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955823	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955825	0.90[EUR][1000 genomes]
rs1160474	0.84[EUR][1000 genomes]
rs13254406	0.81[EUR][1000 genomes]
rs13280410	0.81[EUR][1000 genomes]
rs13439042	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1396351	0.93[EUR][1000 genomes]
rs1396354	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1508555	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1508566	0.89[EUR][1000 genomes]
rs1508569	0.93[EUR][1000 genomes]
rs16890041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753197	0.95[EUR][1000 genomes]
rs218018	0.84[CEU][hapmap]
rs2202792	0.89[EUR][1000 genomes]
rs2202793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2202794	0.84[EUR][1000 genomes]
rs34660998	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4604472	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876727	0.84[EUR][1000 genomes]
rs6469700	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6469701	0.80[EUR][1000 genomes]
rs7815693	0.93[EUR][1000 genomes]
rs7838659	0.93[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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118663000-118675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118663000-118675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:118663000-118676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:118663000-118677000	Weak transcription	HSMM	muscle
5	chr8:118663000-118679200	Weak transcription	Aorta	Aorta
6	chr8:118663200-118667000	Weak transcription	Liver	Liver
7	chr8:118663200-118675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:118665200-118667200	Enhancers	Primary T cells from cord blood	blood
9	chr8:118665200-118667200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:118665200-118667400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:118665200-118668000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:118665400-118667200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:118665400-118667400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:118665600-118667600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:118665800-118667200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:118665800-118667200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:118665800-118667400	Weak transcription	Fetal Stomach	stomach
18	chr8:118666000-118667200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:118666000-118667400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:118666200-118667000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:118666200-118668400	Enhancers	HepG2	liver
22	chr8:118666600-118669200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:118666600-118670200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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