Variant report

Variant	rs10992590
Chromosome Location	chr9:95790269-95790270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95789507..95791144-chr9:95796339..95798660,2	K562	blood:
2	chr9:95789704..95791224-chr9:95894882..95896881,2	MCF-7	breast:
3	chr9:95526508..95528602-chr9:95789218..95791812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction
ENSG00000131669	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10115178	0.95[ASN][1000 genomes]
rs10115813	0.95[ASN][1000 genomes]
rs10117910	0.95[ASN][1000 genomes]
rs10821056	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992583	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992585	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992602	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13287304	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28715500	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34002351	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34274030	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34337651	0.91[AMR][1000 genomes]
rs36044170	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56226047	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7024692	0.95[ASN][1000 genomes]
rs7852416	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7855476	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv521136	chr9:95782667-95798871	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95766600-95790400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:95766600-95790800	Weak transcription	Right Ventricle	heart
3	chr9:95766600-95791000	Weak transcription	Colonic Mucosa	Colon
4	chr9:95766600-95791000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:95766600-95794000	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:95770200-95793600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:95776600-95799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:95776600-95799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:95779600-95798400	Strong transcription	Brain Germinal Matrix	brain
10	chr9:95781800-95790400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr9:95783000-95793800	Weak transcription	Liver	Liver
12	chr9:95783600-95790800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:95783600-95799000	Weak transcription	Esophagus	oesophagus
14	chr9:95784200-95795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:95785800-95791800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:95785800-95792200	Weak transcription	Fetal Intestine Large	intestine
17	chr9:95786000-95791600	Weak transcription	Pancreas	Pancrea
18	chr9:95787000-95792000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr9:95787000-95792000	Weak transcription	Gastric	stomach
20	chr9:95787200-95790400	Genic enhancers	Fetal Thymus	thymus
21	chr9:95787800-95792400	Weak transcription	Fetal Brain Female	brain
22	chr9:95788000-95793600	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:95788400-95790600	Weak transcription	Adipose Nuclei	Adipose
24	chr9:95788400-95790600	Weak transcription	Fetal Stomach	stomach
25	chr9:95788400-95791200	Genic enhancers	Thymus	Thymus
26	chr9:95788400-95791800	Weak transcription	Fetal Intestine Small	intestine
27	chr9:95789200-95794200	Weak transcription	Fetal Kidney	kidney
28	chr9:95789400-95790600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr9:95789400-95790600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr9:95789400-95791200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:95789600-95790800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr9:95789600-95790800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr9:95789600-95791000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:95789600-95791000	Weak transcription	Lung	lung
35	chr9:95789600-95791000	Enhancers	Dnd41	blood
36	chr9:95789600-95795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:95789800-95790400	Enhancers	Primary B cells from cord blood	blood
38	chr9:95789800-95790400	Enhancers	Primary T cells from cord blood	blood
39	chr9:95789800-95790800	Enhancers	Primary B cells from peripheral blood	blood
40	chr9:95789800-95791000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:95789800-95791000	Weak transcription	Spleen	Spleen
42	chr9:95789800-95791200	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:95790000-95790400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr9:95790000-95790400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr9:95790000-95790400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr9:95790000-95791200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:95790000-95791200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr9:95790000-95791400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr9:95790200-95790600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:95790200-95791200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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