Variant report

Variant	rs2030992
Chromosome Location	chr9:94669239-94669240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94592841..94594519-chr9:94668983..94670504,2	K562	blood:
2	chr9:94664745..94669992-chr9:94681267..94685780,5	K562	blood:
3	chr3:102426713..102428233-chr9:94668915..94670633,2	K562	blood:
4	chr9:94667170..94669992-chr9:94682219..94685194,2	K562	blood:
5	chr9:94513749..94516669-chr9:94667565..94670057,2	K562	blood:
6	chr9:94668680..94671587-chr9:94678743..94680656,2	K562	blood:
7	chr9:94667534..94670775-chr9:94707582..94710553,5	K562	blood:
8	chr9:94668298..94670919-chr9:94728281..94730524,2	K562	blood:
9	chr9:94666595..94672238-chr9:94672403..94678372,8	K562	blood:
10	chr9:94645315..94647676-chr9:94666839..94670309,3	K562	blood:
11	chr9:94667321..94670775-chr9:94706336..94711619,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10761137	0.82[EUR][1000 genomes]
rs10820914	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10820915	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992149	0.81[AMR][1000 genomes]
rs10992151	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10992158	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992159	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11789973	0.82[AMR][1000 genomes]
rs11792319	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12683797	0.82[AMR][1000 genomes]
rs1609292	0.83[EUR][1000 genomes]
rs1881384	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919102	0.80[EUR][1000 genomes]
rs1919103	0.83[EUR][1000 genomes]
rs3905385	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4275276	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4347043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4347044	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4430151	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4517189	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57688942	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58431919	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59723153	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62565678	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62565679	0.83[EUR][1000 genomes]
rs62565747	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6479383	0.81[AMR][1000 genomes]
rs72746246	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94662200-94669400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:94664800-94669600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:94665400-94669600	Weak transcription	Ovary	ovary
4	chr9:94665800-94669600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:94667000-94669600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:94667000-94670200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:94667000-94671600	Enhancers	Fetal Heart	heart
8	chr9:94667800-94672200	Weak transcription	Small Intestine	intestine
9	chr9:94668000-94670400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:94668000-94671400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:94668200-94670600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:94668400-94669400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:94668400-94670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94668400-94671400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:94668600-94669400	Active TSS	K562	blood
16	chr9:94668600-94669600	Active TSS	Stomach Smooth Muscle	stomach
17	chr9:94668600-94671600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:94668800-94669400	Weak transcription	Gastric	stomach
19	chr9:94668800-94669600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:94668800-94669600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:94668800-94669600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:94668800-94669600	Weak transcription	Fetal Kidney	kidney
23	chr9:94668800-94669600	Weak transcription	Fetal Stomach	stomach
24	chr9:94668800-94669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:94668800-94669800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr9:94668800-94669800	Weak transcription	Lung	lung
27	chr9:94668800-94670000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:94668800-94670000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:94668800-94670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:94668800-94670000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr9:94668800-94670000	Enhancers	Fetal Thymus	thymus
32	chr9:94668800-94671800	Enhancers	Fetal Lung	lung
33	chr9:94668800-94673000	Weak transcription	Esophagus	oesophagus
34	chr9:94668800-94676800	Weak transcription	Fetal Intestine Large	intestine
35	chr9:94668800-94676800	Weak transcription	Spleen	Spleen
36	chr9:94668800-94682800	Weak transcription	Colonic Mucosa	Colon
37	chr9:94669000-94669400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:94669000-94669400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:94669000-94669600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr9:94669000-94669600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:94669000-94669600	Weak transcription	Right Atrium	heart
42	chr9:94669000-94669800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:94669000-94669800	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr9:94669000-94670200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:94669000-94670200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:94669000-94670600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:94669000-94671000	Enhancers	Fetal Intestine Small	intestine
48	chr9:94669000-94671200	Weak transcription	NHLF	lung
49	chr9:94669000-94671400	Weak transcription	Placenta	Placenta
50	chr9:94669000-94674400	Enhancers	Colon Smooth Muscle	Colon

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