Variant report

Variant	rs7160965
Chromosome Location	chr14:31506505-31506506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31503438..31506218-chr14:31506367..31508706,3	MCF-7	breast:
2	chr14:31471923..31474357-chr14:31505063..31507952,2	K562	blood:
3	chr14:31500890..31503560-chr14:31504329..31508150,5	K562	blood:
4	chr14:31493895..31497563-chr14:31505325..31509450,6	K562	blood:
5	chr14:31498429..31503635-chr14:31504922..31508361,9	K562	blood:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10483353	1.00[MEX][hapmap]
rs11621299	0.85[CHB][hapmap]
rs12885886	0.81[EUR][1000 genomes]
rs28534387	0.97[ASN][1000 genomes]
rs35832522	0.81[EUR][1000 genomes]
rs36036776	0.81[EUR][1000 genomes]
rs3784162	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784163	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981816	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6571386	1.00[JPT][hapmap]
rs6571387	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146243	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150103	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014110	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020210	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496600-31507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
4	chr14:31496800-31507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:31496800-31507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:31496800-31508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:31496800-31508600	Weak transcription	Lung	lung
8	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
9	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
10	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
13	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:31497000-31507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
18	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
19	chr14:31497200-31509200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:31497400-31512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:31497600-31507200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:31501200-31507000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:31501200-31507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:31501200-31512800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:31501200-31514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
30	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:31501400-31511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:31501600-31507000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:31503000-31507600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:31503000-31508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:31503200-31507000	Weak transcription	Liver	Liver
36	chr14:31503200-31507800	Weak transcription	GM12878-XiMat	blood
37	chr14:31503200-31509200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:31503400-31507000	Weak transcription	Small Intestine	intestine
39	chr14:31503400-31507000	Weak transcription	HUVEC	blood vessel
40	chr14:31503400-31507200	Weak transcription	Ovary	ovary
41	chr14:31503400-31507200	Weak transcription	NHLF	lung
42	chr14:31503400-31507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:31503400-31507800	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:31503400-31509400	Weak transcription	HSMM	muscle
45	chr14:31503400-31520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:31503600-31517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:31503800-31506600	Weak transcription	Pancreas	Pancrea
49	chr14:31503800-31507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:31503800-31507600	Weak transcription	Fetal Intestine Large	intestine

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