Variant report

Variant	rs6887447
Chromosome Location	chr5:80952119-80952120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10053226	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054360	0.90[EUR][1000 genomes]
rs10059425	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060208	0.81[EUR][1000 genomes]
rs10062494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074416	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074423	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473850	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474035	0.90[EUR][1000 genomes]
rs10514221	0.81[EUR][1000 genomes]
rs10942277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942278	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942279	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13354281	0.81[EUR][1000 genomes]
rs13359852	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360536	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362287	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373965	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898989	0.90[EUR][1000 genomes]
rs28546170	0.90[EUR][1000 genomes]
rs28825230	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57587453	0.82[EUR][1000 genomes]
rs57778735	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58238009	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58652756	0.90[EUR][1000 genomes]
rs58937248	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261412	1.00[ASN][1000 genomes]
rs6452422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897373	0.81[EUR][1000 genomes]
rs73135635	0.90[EUR][1000 genomes]
rs73135645	0.85[AFR][1000 genomes]
rs73135661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137634	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137639	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137662	1.00[ASN][1000 genomes]
rs7707946	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710001	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710903	0.84[EUR][1000 genomes]
rs7729317	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736720	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293277	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv527374	chr5:80938095-80964452	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
3	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:80924200-80962800	Weak transcription	Ovary	ovary
5	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:80930800-80953400	Weak transcription	Right Ventricle	heart
7	chr5:80931000-80952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:80932200-80952200	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:80932200-80952800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:80938800-80965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:80939200-80952800	Weak transcription	Lung	lung
13	chr5:80939200-80962400	Weak transcription	Fetal Stomach	stomach
14	chr5:80940600-80955600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:80942800-80953400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:80942800-80962800	Weak transcription	Right Atrium	heart
17	chr5:80944200-80953000	Weak transcription	Fetal Heart	heart
18	chr5:80944400-80953400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:80945600-80952200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:80945600-80953400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
22	chr5:80946000-80958200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:80947800-80952200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:80948000-80953000	Strong transcription	Fetal Thymus	thymus
26	chr5:80948000-80971000	Weak transcription	Primary T cells from cord blood	blood
27	chr5:80949600-80954400	Genic enhancers	Dnd41	blood
28	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
29	chr5:80950400-80952800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:80950400-80953200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:80950400-80962600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:80951000-80954000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:80951600-80956000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:80951600-80960800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:80951800-80954400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:80951800-80970800	Weak transcription	Primary B cells from cord blood	blood
37	chr5:80952000-80954000	Weak transcription	Left Ventricle	heart

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