Variant report

Variant	rs7005133
Chromosome Location	chr8:8901222-8901223
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1045527	0.81[CEU][hapmap]
rs1045529	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775597	0.81[ASN][1000 genomes]
rs11782281	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11784393	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11787026	0.89[CEU][hapmap]
rs12114954	0.86[CEU][hapmap]
rs13252797	0.81[CEU][hapmap]
rs13271797	0.81[CEU][hapmap]
rs13272451	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1562211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17702602	0.83[CEU][hapmap]
rs2044387	0.84[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2044388	0.94[CHB][hapmap]
rs2288671	0.89[CEU][hapmap];0.89[CHB][hapmap]
rs2409119	0.83[CHB][hapmap]
rs2915251	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs2915252	0.83[CHB][hapmap]
rs2921378	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921379	0.89[CHB][hapmap]
rs2921383	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2953800	0.84[CHB][hapmap]
rs2953805	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2953806	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2956242	0.83[CHB][hapmap]
rs2956243	0.89[CHB][hapmap]
rs2956244	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2979246	0.83[CHB][hapmap]
rs2979247	0.90[CEU][hapmap];0.90[AFR][1000 genomes]
rs2979253	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2979256	0.89[CEU][hapmap]
rs2979260	0.84[CHB][hapmap]
rs2979263	0.83[CHB][hapmap]
rs2979265	0.90[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs2979266	0.83[CHB][hapmap]
rs3021416	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4081881	0.84[CHB][hapmap]
rs4537305	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4841083	0.92[CEU][hapmap]
rs4841084	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841085	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6422353	0.83[CHB][hapmap]
rs6601280	0.92[CEU][hapmap]
rs6748	0.81[CEU][hapmap]
rs6983877	0.86[CEU][hapmap]
rs6987558	0.89[CEU][hapmap];0.89[CHB][hapmap]
rs7016139	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813388	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7824140	0.91[ASN][1000 genomes]
rs7839585	0.94[CHB][hapmap]
rs7853	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650616	0.81[CEU][hapmap]
rs987538	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7005133	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs7005133	SGK223	cis	Thyroid	GTEx
rs7005133	RP11-62H7.2	cis	Thyroid	GTEx
rs7005133	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs7005133	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
3	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
7	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
8	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
9	chr8:8891400-8915200	Weak transcription	K562	blood
10	chr8:8892000-8901800	Weak transcription	Primary B cells from cord blood	blood
11	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:8897800-8902400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:8898000-8902000	Weak transcription	GM12878-XiMat	blood
14	chr8:8898600-8905200	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:8898800-8903800	Weak transcription	Fetal Heart	heart
17	chr8:8898800-8907200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:8899800-8902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:8899800-8907200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:8900000-8907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:8900000-8907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:8900200-8902200	Weak transcription	Placenta	Placenta
24	chr8:8900200-8903200	Enhancers	NHEK	skin
25	chr8:8900200-8903800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:8900400-8903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:8900400-8905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:8900600-8901800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:8900600-8907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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