Variant report

Variant	rs1379180
Chromosome Location	chr7:50187866-50187867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10234768	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245556	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379174	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379175	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379179	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456905	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456907	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466292	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221657	0.93[ASN][1000 genomes]
rs2366025	0.87[ASN][1000 genomes]
rs3807324	0.93[ASN][1000 genomes]
rs3823541	0.93[ASN][1000 genomes]
rs4244228	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917010	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917112	0.93[ASN][1000 genomes]
rs6583423	0.93[ASN][1000 genomes]
rs6583432	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956098	0.93[ASN][1000 genomes]
rs6973828	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778784	0.85[ASN][1000 genomes]
rs897695	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897696	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:28 , 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	chr7:50182600-50193200	Enhancers	Primary B cells from cord blood	blood
3	chr7:50184400-50193400	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:50184600-50190400	Enhancers	Fetal Thymus	thymus
5	chr7:50185200-50190200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:50185200-50190800	Enhancers	Primary T cells from cord blood	blood
7	chr7:50185400-50189600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:50185400-50193400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:50185400-50193600	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:50186400-50189800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:50186400-50190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:50186600-50189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:50186600-50195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:50186800-50188200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:50187000-50188200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:50187000-50189200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:50187400-50188400	Flanking Active TSS	GM12878-XiMat	blood
18	chr7:50187400-50189000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:50187400-50189200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:50187400-50189200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:50187400-50189400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:50187400-50189600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:50187600-50188000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr7:50187600-50188000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr7:50187600-50188200	Flanking Active TSS	Dnd41	blood
26	chr7:50187600-50188400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:50187800-50188000	Flanking Active TSS	Thymus	Thymus
28	chr7:50187800-50189600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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