Variant report

Variant	rs4917010
Chromosome Location	chr7:50193102-50193103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10225094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10229515	1.00[CHB][hapmap]
rs10233698	0.90[CHB][hapmap]
rs10234768	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236637	1.00[CHB][hapmap]
rs10245556	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11185597	0.90[CHB][hapmap]
rs11185598	0.90[CHB][hapmap]
rs11970999	0.90[CHB][hapmap]
rs11974866	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540153	0.90[CHB][hapmap]
rs12672757	0.90[CHB][hapmap]
rs12674442	1.00[JPT][hapmap]
rs13222252	0.89[CHB][hapmap]
rs1351688	0.90[CHB][hapmap]
rs1351691	0.90[CHB][hapmap]
rs1355037	0.90[CHB][hapmap]
rs1379174	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379175	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379180	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396277	1.00[CHB][hapmap]
rs1456905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456907	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466292	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1472886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1476240	0.90[CHB][hapmap]
rs1476241	0.90[CHB][hapmap]
rs1483076	0.90[CHB][hapmap]
rs1483077	0.90[CHB][hapmap]
rs1483083	0.90[CHB][hapmap]
rs1483084	0.90[CHB][hapmap]
rs1567278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1601032	0.90[CHB][hapmap]
rs1905271	1.00[CHB][hapmap]
rs1905272	0.90[CHB][hapmap]
rs1911751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1911754	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1911755	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs1911756	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1911767	0.90[CHB][hapmap]
rs2046299	0.90[CHB][hapmap]
rs2128658	0.90[CHB][hapmap]
rs2128664	0.90[CHB][hapmap]
rs2168591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168592	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202772	0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap]
rs2221656	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2221657	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.93[ASN][1000 genomes]
rs2247628	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2365791	0.90[CHB][hapmap]
rs2366023	0.90[CHB][hapmap]
rs2366025	0.87[ASN][1000 genomes]
rs2366028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2886464	0.90[CHB][hapmap]
rs3757391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3807323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3807324	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.93[ASN][1000 genomes]
rs3823541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.93[ASN][1000 genomes]
rs4244228	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917005	1.00[CHB][hapmap]
rs4917103	0.90[CHB][hapmap]
rs4917111	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917112	0.93[ASN][1000 genomes]
rs6583407	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6583423	0.93[ASN][1000 genomes]
rs6583431	0.89[CHB][hapmap]
rs6583432	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948934	0.90[CHB][hapmap]
rs6953525	0.90[CHB][hapmap]
rs6956098	0.93[ASN][1000 genomes]
rs6969018	1.00[CHB][hapmap]
rs6973828	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979166	0.90[CHB][hapmap]
rs764250	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778784	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7785151	0.90[CHB][hapmap]
rs7788033	0.90[CHB][hapmap]
rs7788589	0.89[CHB][hapmap]
rs7788998	1.00[CHB][hapmap]
rs7792222	0.90[CHB][hapmap]
rs897695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959678	0.90[CHB][hapmap]
rs988393	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4917010	ZPBP	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50182600-50193200	Enhancers	Primary B cells from cord blood	blood
2	chr7:50184400-50193400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:50185400-50193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:50185400-50193600	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:50186600-50195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:50189200-50195200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:50189200-50195400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:50189200-50203400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:50189600-50195200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:50189600-50195400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:50189600-50195400	Weak transcription	Dnd41	blood
12	chr7:50189800-50195200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:50189800-50195400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:50190000-50195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:50190200-50195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:50190800-50195200	Weak transcription	Primary T cells from cord blood	blood
17	chr7:50191000-50194000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50191600-50193400	Enhancers	Fetal Thymus	thymus
19	chr7:50192000-50193200	Enhancers	Thymus	Thymus
20	chr7:50192000-50194400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:50192600-50193400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr7:50192600-50193600	Enhancers	GM12878-XiMat	blood

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