Variant report

Variant	rs17167580
Chromosome Location	chr7:13889153-13889154
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13888923..13892464-chr7:13896702..13899775,3	K562	blood:
2	chr7:13888536..13892464-chr7:13896702..13899784,3	K562	blood:
3	chr7:13887425..13891202-chr7:13891537..13895717,6	K562	blood:

Variant related genes	Relation type
ENSG00000224330	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11973709	0.83[ASN][1000 genomes]
rs12154701	0.87[ASN][1000 genomes]
rs12666980	0.85[ASN][1000 genomes]
rs17167575	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17167587	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2190326	0.82[ASN][1000 genomes]
rs34695370	0.87[ASN][1000 genomes]
rs34722091	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34863470	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35200032	0.83[ASN][1000 genomes]
rs35559105	0.84[ASN][1000 genomes]
rs4719382	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62452244	0.99[ASN][1000 genomes]
rs7787720	0.88[ASN][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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv433032	chr7:13792450-13911001	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv887697	chr7:13841798-13899446	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv887699	chr7:13868601-13899446	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015919	chr7:13873800-13908250	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv516692	chr7:13875122-13907827	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13881000-13889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:13885000-13889800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:13886200-13890200	Enhancers	Fetal Lung	lung
4	chr7:13886200-13892200	Enhancers	NHDF-Ad	bronchial
5	chr7:13887000-13892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:13888000-13890000	Enhancers	Osteobl	bone
7	chr7:13888200-13890600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:13888200-13892000	Enhancers	NHEK	skin
9	chr7:13888200-13892200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:13888400-13892200	Enhancers	NHLF	lung
11	chr7:13888600-13889200	Enhancers	Right Atrium	heart
12	chr7:13888600-13889400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:13888600-13891000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:13888600-13891400	Weak transcription	Fetal Stomach	stomach
15	chr7:13888600-13892600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:13888800-13889400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:13888800-13889400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:13888800-13889600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:13888800-13889600	Enhancers	K562	blood
20	chr7:13888800-13889800	Enhancers	NH-A	brain
21	chr7:13888800-13890400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:13888800-13890600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:13888800-13890600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:13888800-13890600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:13888800-13890600	Enhancers	Primary hematopoietic stem cells	blood
26	chr7:13888800-13890600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:13888800-13890600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:13888800-13890600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:13888800-13890800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:13888800-13891600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:13888800-13891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:13888800-13891600	Enhancers	Dnd41	blood
33	chr7:13888800-13892200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:13888800-13892600	Enhancers	HMEC	breast
35	chr7:13889000-13889200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:13889000-13889200	Enhancers	Left Ventricle	heart
37	chr7:13889000-13889400	Enhancers	Brain Germinal Matrix	brain
38	chr7:13889000-13889600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:13889000-13890000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:13889000-13890000	Weak transcription	Lung	lung
41	chr7:13889000-13890600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:13889000-13890600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr7:13889000-13890600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:13889000-13891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:13889000-13892200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:13889000-13892600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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