Variant report

Variant	rs586695
Chromosome Location	chr5:81008527-81008528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81002134..81004521-chr5:81007917..81010002,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12186581	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160079	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347597	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34007998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365241	0.84[ASN][1000 genomes]
rs371705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374479	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs382523	0.82[ASN][1000 genomes]
rs389860	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs393766	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes]
rs398666	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402061	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402352	0.86[ASN][1000 genomes]
rs402433	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403777	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs403795	0.84[ASN][1000 genomes]
rs406283	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411520	0.86[ASN][1000 genomes]
rs411990	0.84[ASN][1000 genomes]
rs418033	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs419435	0.86[ASN][1000 genomes]
rs420202	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs420412	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs421348	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs422523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424844	0.86[ASN][1000 genomes]
rs425897	0.84[ASN][1000 genomes]
rs432617	0.86[ASN][1000 genomes]
rs437417	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs446064	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs452314	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs827065	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription 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 lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3376167	chr5:81007446-81009444	Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2613325	chr5:81007679-81009176	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2034602	chr5:81007976-81008625	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3469432	chr5:81008044-81008535	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3507505	chr5:81008053-81008553	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
6	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
8	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
10	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:80999400-81013000	Weak transcription	Ovary	ovary
15	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
16	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
18	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
20	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
21	chr5:81003400-81013200	Weak transcription	HSMM	muscle
22	chr5:81003800-81008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:81004000-81009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:81004800-81009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
29	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
32	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:81006000-81013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:81006200-81010800	Weak transcription	Fetal Thymus	thymus
35	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
36	chr5:81006400-81009200	Enhancers	Colon Smooth Muscle	Colon
37	chr5:81006400-81010800	Weak transcription	GM12878-XiMat	blood
38	chr5:81006400-81011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:81006400-81013000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:81006600-81014200	Weak transcription	Brain Angular Gyrus	brain
41	chr5:81007200-81012000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:81007400-81013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:81007800-81011800	Weak transcription	Primary T cells from cord blood	blood
44	chr5:81008000-81010800	Weak transcription	Dnd41	blood
45	chr5:81008200-81008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:81008400-81014200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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