Variant report

Variant	rs371705
Chromosome Location	chr5:81021340-81021341
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81017452..81019959-chr5:81020706..81023744,3	K562	blood:
2	chr5:81020260..81022412-chr5:81045440..81047540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12186581	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160079	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347597	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34007998	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365241	0.84[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];0.94[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs396231	1.00[ASW][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]
rs398666	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402352	0.86[ASN][1000 genomes]
rs402433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403777	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs403795	0.84[ASN][1000 genomes]
rs406283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411520	0.86[ASN][1000 genomes]
rs411840	0.81[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][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	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs422523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424762	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]
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	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs452314	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs586695	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]
rs827065	1.00[JPT][hapmap];0.86[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	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	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:81014400-81022800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:81014600-81022800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:81015600-81021400	Weak transcription	Small Intestine	intestine
12	chr5:81015800-81021400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:81015800-81022000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:81015800-81023000	Weak transcription	Psoas Muscle	Psoas
15	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
16	chr5:81016000-81031800	Weak transcription	Ovary	ovary
17	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
18	chr5:81016200-81022000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:81016200-81022000	Weak transcription	Fetal Brain Male	brain
20	chr5:81016200-81022200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:81017000-81022000	Weak transcription	Brain Anterior Caudate	brain
22	chr5:81017800-81022000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:81018000-81021600	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:81018000-81031600	Weak transcription	Brain Angular Gyrus	brain
25	chr5:81018200-81021400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:81018200-81022200	Enhancers	GM12878-XiMat	blood
27	chr5:81018400-81022400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:81018400-81023600	Weak transcription	Brain Substantia Nigra	brain
29	chr5:81018600-81021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:81018600-81022200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:81018600-81022400	Weak transcription	Fetal Heart	heart
32	chr5:81018600-81033800	Weak transcription	Thymus	Thymus
33	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:81018800-81022000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:81019400-81022400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:81019600-81021600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:81019800-81022000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:81019800-81029000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:81020000-81021400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:81020600-81021400	Strong transcription	Fetal Thymus	thymus
41	chr5:81020600-81022600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:81020600-81023000	Genic enhancers	Dnd41	blood
43	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:81021000-81021400	Weak transcription	Fetal Brain Female	brain
45	chr5:81021000-81023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:81021000-81023600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:81021000-81028200	Weak transcription	Primary B cells from cord blood	blood
48	chr5:81021000-81033600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:81021200-81021400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:81021200-81022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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