Variant report

Variant	rs10811623
Chromosome Location	chr9:21811154-21811155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:21810844-21811268	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:21810371-21811333	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:21810866-21811164	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:21811014-21811213	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000266732	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10114559	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10119568	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10119693	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10121449	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10121899	0.84[EUR][1000 genomes]
rs10738598	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10738601	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10757257	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10811625	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10811626	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10811629	0.89[ASN][1000 genomes]
rs10965128	0.85[ASN][1000 genomes]
rs10965133	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10965134	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965135	0.87[ASN][1000 genomes]
rs10965141	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10965143	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10965144	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10965145	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10965153	0.87[ASN][1000 genomes]
rs11523031	0.89[ASN][1000 genomes]
rs11532907	0.82[ASN][1000 genomes]
rs1341866	0.82[EUR][1000 genomes]
rs1345020	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1345023	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1345024	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3900787	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3922992	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265275	0.84[EUR][1000 genomes]
rs4615669	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4977567	0.88[ASN][1000 genomes]
rs4977733	0.89[ASN][1000 genomes]
rs58377678	0.88[ASN][1000 genomes]
rs7022754	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7023329	0.88[ASN][1000 genomes]
rs7023954	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7029036	0.84[EUR][1000 genomes]
rs7033879	0.84[EUR][1000 genomes]
rs7038523	0.84[EUR][1000 genomes]
rs7049092	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7863090	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7863942	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7868783	0.89[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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1026981	chr9:21748202-21811697	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21804000-21814200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:21804000-21817600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:21804000-21838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:21804200-21813200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:21804200-21813200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:21804400-21813200	Weak transcription	Colonic Mucosa	Colon
7	chr9:21804400-21816000	Weak transcription	Fetal Kidney	kidney
8	chr9:21804800-21813600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:21805000-21811200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:21805000-21812000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:21805000-21813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:21805000-21816200	Weak transcription	Fetal Brain Male	brain
13	chr9:21805200-21812800	Strong transcription	Fetal Stomach	stomach
14	chr9:21805200-21813200	Weak transcription	Psoas Muscle	Psoas
15	chr9:21805200-21813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:21805400-21812600	Strong transcription	Fetal Intestine Large	intestine
17	chr9:21805800-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:21805800-21813200	Weak transcription	Brain Angular Gyrus	brain
19	chr9:21806000-21812400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:21806000-21812600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:21806000-21817600	Genic enhancers	HMEC	breast
22	chr9:21806200-21813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:21806400-21812200	Strong transcription	Fetal Intestine Small	intestine
24	chr9:21806400-21812400	Strong transcription	HepG2	liver
25	chr9:21806400-21812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:21806400-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:21806400-21813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:21806400-21819800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:21806600-21812200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr9:21806600-21812400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:21806600-21815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:21806600-21841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:21806800-21811600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:21806800-21812000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:21806800-21812000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:21806800-21812800	Strong transcription	Primary T cells from cord blood	blood
37	chr9:21806800-21813200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:21806800-21815800	Weak transcription	Brain Germinal Matrix	brain
39	chr9:21807000-21812000	Strong transcription	Fetal Muscle Leg	muscle
40	chr9:21807000-21813600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:21807200-21811400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:21807200-21812000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:21807200-21812800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:21807200-21813200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr9:21807200-21813400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr9:21807400-21812200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:21807400-21812200	Strong transcription	Thymus	Thymus
48	chr9:21807400-21812400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr9:21807400-21813200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:21807400-21813200	Weak transcription	Brain Substantia Nigra	brain

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