Variant report

Variant	rs59010612
Chromosome Location	chr9:14597506-14597507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10756585	0.91[EUR][1000 genomes]
rs10810181	0.97[ASN][1000 genomes]
rs10810186	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10810188	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10810189	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10810190	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10810191	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10810196	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10961593	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10961596	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10961597	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10961599	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10961605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10961610	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10961616	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10961619	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10961621	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12237470	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12683789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802481	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4298581	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4495526	0.91[ASN][1000 genomes]
rs7040411	0.86[AFR][1000 genomes]
rs7045207	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7048089	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73405730	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407620	0.86[AFR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14585800-14598000	Weak transcription	Right Ventricle	heart
2	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
3	chr9:14587600-14599600	Weak transcription	Placenta	Placenta
4	chr9:14587800-14618400	Weak transcription	HUVEC	blood vessel
5	chr9:14588200-14618800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:14594000-14599800	Weak transcription	Osteobl	bone
7	chr9:14594200-14608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:14594400-14618200	Weak transcription	NH-A	brain
9	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:14595000-14598400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:14595200-14597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:14595600-14597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
16	chr9:14596200-14598200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:14596200-14598200	Strong transcription	Fetal Stomach	stomach
18	chr9:14596400-14598600	Weak transcription	Fetal Brain Female	brain
19	chr9:14596600-14597600	Strong transcription	Pancreas	Pancrea
20	chr9:14596600-14598000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:14596600-14598200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:14596600-14598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:14596600-14600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:14596600-14603200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:14596600-14618600	Weak transcription	Adipose Nuclei	Adipose
26	chr9:14596600-14618800	Weak transcription	Left Ventricle	heart
27	chr9:14596600-14618800	Weak transcription	Ovary	ovary
28	chr9:14596600-14618800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:14596600-14627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:14596600-14627600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:14596600-14629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:14596600-14629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:14596600-14630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:14596600-14630600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr9:14596600-14630800	Weak transcription	Aorta	Aorta
36	chr9:14596600-14630800	Weak transcription	Fetal Intestine Small	intestine
37	chr9:14596600-14630800	Weak transcription	HSMMtube	muscle
38	chr9:14596600-14634000	Weak transcription	Gastric	stomach
39	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:14596800-14597600	Weak transcription	Spleen	Spleen
41	chr9:14596800-14609600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:14596800-14618600	Weak transcription	Liver	Liver
43	chr9:14597000-14600000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr9:14597000-14600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:14597000-14600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:14597000-14608400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr9:14597000-14610600	Weak transcription	Primary B cells from cord blood	blood
48	chr9:14597000-14618800	Weak transcription	Fetal Intestine Large	intestine
49	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:14597200-14597800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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