Variant report

Variant	rs7852534
Chromosome Location	chr9:14596528-14596529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10120026	1.00[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10125272	0.90[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1047717	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1047718	0.95[ASN][1000 genomes]
rs1047720	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10738371	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10756582	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10756591	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10810187	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1130072	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs1343571	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1343572	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1578868	0.84[CEU][hapmap]
rs2382486	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2382487	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2382494	0.82[AFR][1000 genomes]
rs3789018	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802482	0.90[CHD][hapmap]
rs4492471	0.81[CHB][hapmap]
rs4620377	0.90[CHD][hapmap]
rs6474846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7031926	0.90[CHD][hapmap]
rs7032825	0.84[CEU][hapmap]
rs72605692	0.97[ASN][1000 genomes]
rs7849849	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7850885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7874535	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS 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
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv521363	chr9:14566406-14691897	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3380008	chr9:14573378-14615933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv471285	chr9:14589173-14622952	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv892607	chr9:14589173-14622952	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv892608	chr9:14589173-14689088	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv613640	chr9:14590805-14616590	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv613641	chr9:14590805-14622952	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv613642	chr9:14592180-14639666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14577400-14597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:14585800-14598000	Weak transcription	Right Ventricle	heart
3	chr9:14586000-14597000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
5	chr9:14587600-14599600	Weak transcription	Placenta	Placenta
6	chr9:14587800-14618400	Weak transcription	HUVEC	blood vessel
7	chr9:14588200-14618800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:14594000-14599800	Weak transcription	Osteobl	bone
9	chr9:14594200-14608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:14594400-14596600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:14594400-14618200	Weak transcription	NH-A	brain
12	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:14595000-14598400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:14595200-14597000	Strong transcription	Primary B cells from cord blood	blood
15	chr9:14595200-14597000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr9:14595200-14597000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:14595200-14597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:14595400-14596600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr9:14595400-14596600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:14595400-14596800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:14595600-14596600	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr9:14595600-14596600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:14595600-14597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
27	chr9:14595800-14596600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:14595800-14596600	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:14595800-14596800	ZNF genes & repeats	Liver	Liver
30	chr9:14595800-14596800	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr9:14595800-14597000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr9:14596000-14596600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:14596000-14596600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:14596000-14596600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:14596000-14596600	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr9:14596000-14596600	ZNF genes & repeats	Brain Anterior Caudate	brain
37	chr9:14596000-14596600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr9:14596000-14596600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr9:14596000-14596600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:14596000-14597000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr9:14596200-14596600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:14596200-14596600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:14596200-14596600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:14596200-14596600	ZNF genes & repeats	Aorta	Aorta
45	chr9:14596200-14596600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr9:14596200-14596600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr9:14596200-14596600	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr9:14596200-14596600	ZNF genes & repeats	Gastric	stomach
49	chr9:14596200-14596600	ZNF genes & repeats	Left Ventricle	heart
50	chr9:14596200-14596600	ZNF genes & repeats	Lung	lung

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