Variant report

Variant	rs9287719
Chromosome Location	chr2:10710730-10710731
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	chr2:10586812..10588853-chr2:10710080..10712899,2	K562	blood:

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10195255	0.82[AFR][1000 genomes]
rs10803723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12464817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13003763	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3814388	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4284804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669593	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Prostate cancer	25217961	GWAS catalog

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10699400-10711000	Weak transcription	GM12878-XiMat	blood
3	chr2:10699400-10716200	Weak transcription	Fetal Brain Male	brain
4	chr2:10702000-10715800	Weak transcription	Hela-S3	cervix
5	chr2:10702000-10717400	Weak transcription	Psoas Muscle	Psoas
6	chr2:10702200-10713800	Weak transcription	K562	blood
7	chr2:10705000-10711800	Weak transcription	Osteobl	bone
8	chr2:10705000-10712400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:10705200-10711000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:10705400-10711200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:10705600-10711200	Weak transcription	Fetal Lung	lung
12	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:10706000-10713800	Weak transcription	HSMMtube	muscle
14	chr2:10706400-10713800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:10706400-10716000	Weak transcription	Fetal Kidney	kidney
16	chr2:10706400-10716600	Strong transcription	Fetal Intestine Small	intestine
17	chr2:10707200-10711600	Weak transcription	HUVEC	blood vessel
18	chr2:10707400-10711200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:10708400-10713000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:10708600-10711200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:10708600-10712200	Strong transcription	Gastric	stomach
23	chr2:10708600-10718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:10708600-10718800	Strong transcription	Primary T cells from cord blood	blood
25	chr2:10708600-10719600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:10708600-10720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:10708800-10711200	Weak transcription	Small Intestine	intestine
30	chr2:10708800-10712200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr2:10708800-10712400	Strong transcription	Thymus	Thymus
32	chr2:10708800-10713000	Strong transcription	Aorta	Aorta
33	chr2:10708800-10713200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:10708800-10716000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:10708800-10718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:10708800-10720600	Strong transcription	Fetal Intestine Large	intestine
37	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:10709000-10712600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:10709000-10712600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr2:10709000-10712600	Strong transcription	Esophagus	oesophagus
41	chr2:10709000-10712600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:10709000-10718200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:10709000-10718600	Strong transcription	Dnd41	blood
44	chr2:10709000-10719000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:10709000-10719000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:10709000-10719200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:10709000-10725800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:10709000-10726600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr2:10709200-10711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:10709200-10712200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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