Variant report

Variant	rs9609395
Chromosome Location	chr22:32355005-32355006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32354648-32355182	HL-60	blood:	n/a	n/a
2	POLR2A	chr22:32353937-32355783	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr22:32354070-32355186	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr22:32354756-32355154	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:32354320-32355139	HL-60	blood:	n/a	n/a
6	POLR2A	chr22:32354803-32355014	K562	blood:	n/a	n/a
7	POLR2A	chr22:32353986-32356378	MCF-7	breast:	n/a	n/a
8	POLR2A	chr22:32351832-32356486	K562	blood:	n/a	n/a
9	POLR2A	chr22:32354721-32355102	U87	brain:	n/a	n/a
10	POLR2A	chr22:32354561-32355266	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr22:32353853-32355417	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32339237..32345444-chr22:32352616..32356758,7	K562	blood:
2	22:31864703-31891033..22:32354828-32357874	K562	blood:
3	22:32162110-32166713..22:32354828-32357874	GM12878	blood:
4	22:32012966-32043914..22:32354828-32357874	GM12878	blood:
5	22:32354828-32357874..22:32740683-32750950	K562	blood:
6	22:32102727-32109893..22:32354828-32357874	GM12878	blood:
7	22:32228866-32235273..22:32354828-32357874	K562	blood:
8	22:32170492-32188129..22:32354828-32357874	Hela-S3	cervix:
9	22:32096851-32100847..22:32354828-32357874	K562	blood:
10	22:32264718-32278135..22:32354828-32357874	K562	blood:
11	chr22:32217728..32219579-chr22:32352880..32355735,2	K562	blood:
12	22:32053085-32061138..22:32354828-32357874	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000227519	TF binding region
ENSG00000128254	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000252909	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1049583	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246704	0.91[ASN][1000 genomes]
rs2301415	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2853884	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853887	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858750	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2858752	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820059	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs71806276	0.83[ASN][1000 genomes]
rs7364274	0.83[AMR][1000 genomes]
rs8141011	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609394	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9609395	YWHAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32346600-32356400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:32351200-32366000	Weak transcription	Stomach Mucosa	stomach
4	chr22:32351400-32355600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:32351400-32366400	Weak transcription	Right Atrium	heart
6	chr22:32352400-32355800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:32352600-32358600	Weak transcription	Fetal Heart	heart
8	chr22:32353000-32357400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:32353000-32366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:32353000-32366000	Weak transcription	Esophagus	oesophagus
11	chr22:32353000-32366000	Weak transcription	Gastric	stomach
12	chr22:32353000-32366200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:32353200-32356000	Weak transcription	Primary T cells from cord blood	blood
14	chr22:32353200-32359400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:32353200-32360400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:32353200-32365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:32353400-32366000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:32353400-32366400	Weak transcription	Psoas Muscle	Psoas
19	chr22:32353600-32356000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr22:32353600-32356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:32353600-32357000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:32353600-32365400	Weak transcription	GM12878-XiMat	blood
23	chr22:32353800-32359000	Weak transcription	Small Intestine	intestine
24	chr22:32353800-32365600	Weak transcription	NHEK	skin
25	chr22:32354000-32355600	Strong transcription	Fetal Intestine Small	intestine
26	chr22:32354000-32355800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:32354000-32356200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:32354000-32357800	Weak transcription	Hela-S3	cervix
29	chr22:32354000-32358600	Weak transcription	Fetal Kidney	kidney
30	chr22:32354000-32366200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:32354200-32356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:32354200-32356400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:32354200-32356400	Weak transcription	HepG2	liver
34	chr22:32354200-32356600	Weak transcription	NHDF-Ad	bronchial
35	chr22:32354200-32356800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:32354200-32356800	Weak transcription	Brain Substantia Nigra	brain
37	chr22:32354200-32356800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:32354200-32357000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:32354200-32357000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:32354200-32357000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:32354200-32357000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:32354200-32357000	Weak transcription	A549	lung
43	chr22:32354200-32357000	Weak transcription	HSMMtube	muscle
44	chr22:32354200-32365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:32354200-32365800	Weak transcription	K562	blood
46	chr22:32354200-32366000	Weak transcription	Primary B cells from cord blood	blood
47	chr22:32354400-32355200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:32354400-32356800	Weak transcription	Adipose Nuclei	Adipose
49	chr22:32354400-32357000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:32354400-32357000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links