Variant report

Variant	rs1870030
Chromosome Location	chr7:50187012-50187013
allele	A/G
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	POLR2A	chr7:50185246-50187146	Raji	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228005	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10228836	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235301	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10241289	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10250629	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260654	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267578	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11185600	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980886	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12672941	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673071	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718245	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12718246	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241637	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456906	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133694	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17133709	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34733935	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984574	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35254219	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35570047	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36129824	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891340	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4092362	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496918	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943189	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800478	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805656	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998928	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50173600-50192800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:50182600-50187400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:50182600-50187800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:50182600-50193200	Enhancers	Primary B cells from cord blood	blood
5	chr7:50182800-50187400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:50182800-50187400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:50184200-50187600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:50184400-50193400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:50184600-50190400	Enhancers	Fetal Thymus	thymus
10	chr7:50184800-50187800	Enhancers	Thymus	Thymus
11	chr7:50185200-50190200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50185200-50190800	Enhancers	Primary T cells from cord blood	blood
13	chr7:50185400-50189600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:50185400-50193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50185400-50193600	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:50186000-50187400	Enhancers	GM12878-XiMat	blood
17	chr7:50186200-50187600	Enhancers	Dnd41	blood
18	chr7:50186400-50187400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:50186400-50187600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:50186400-50189800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:50186400-50190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:50186600-50187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:50186600-50189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:50186600-50195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:50186800-50188200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:50187000-50188200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:50187000-50189200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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