Variant report

Variant	rs72702995
Chromosome Location	chr9:14595744-14595745
allele	C/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:
2	chr9:14594819..14596399-chr9:14599180..14601861,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11788056	1.00[AFR][1000 genomes]
rs11789042	1.00[AFR][1000 genomes]
rs11793517	1.00[AFR][1000 genomes]
rs11793843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702962	1.00[AFR][1000 genomes]
rs72702994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72704939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72704952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14577400-14597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:14577600-14596200	Weak transcription	Pancreas	Pancrea
3	chr9:14582400-14596200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:14585800-14598000	Weak transcription	Right Ventricle	heart
5	chr9:14586000-14596200	Weak transcription	Lung	lung
6	chr9:14586000-14597000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr9:14586400-14595800	Weak transcription	Brain Germinal Matrix	brain
8	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
9	chr9:14587400-14595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:14587600-14596200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:14587600-14596200	Weak transcription	Left Ventricle	heart
12	chr9:14587600-14599600	Weak transcription	Placenta	Placenta
13	chr9:14587800-14618400	Weak transcription	HUVEC	blood vessel
14	chr9:14588000-14596000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:14588200-14618800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:14588800-14595800	Weak transcription	Liver	Liver
17	chr9:14588800-14595800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:14589000-14596000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:14592000-14596200	Weak transcription	Ovary	ovary
20	chr9:14594000-14596200	Weak transcription	Aorta	Aorta
21	chr9:14594000-14596200	Weak transcription	Esophagus	oesophagus
22	chr9:14594000-14596200	Weak transcription	Gastric	stomach
23	chr9:14594000-14596400	Weak transcription	Fetal Intestine Small	intestine
24	chr9:14594000-14599800	Weak transcription	Osteobl	bone
25	chr9:14594200-14608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:14594400-14596200	Weak transcription	Fetal Stomach	stomach
27	chr9:14594400-14596600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:14594400-14618200	Weak transcription	NH-A	brain
29	chr9:14594600-14596200	Weak transcription	Fetal Intestine Large	intestine
30	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:14595000-14595800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:14595000-14596000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:14595000-14596400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:14595000-14598400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:14595200-14597000	Strong transcription	Primary B cells from cord blood	blood
36	chr9:14595200-14597000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr9:14595200-14597000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:14595200-14597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:14595200-14597600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:14595400-14596600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr9:14595400-14596600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:14595400-14596800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:14595600-14595800	Weak transcription	Fetal Brain Male	brain
45	chr9:14595600-14596200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr9:14595600-14596600	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr9:14595600-14596600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:14595600-14597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial

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