Variant report

Variant	rs10965144
Chromosome Location	chr9:21808913-21808914
allele	C/T
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	chr9:21808841-21809123	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:21808643-21809339	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:21808783-21809095	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000266732	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10114559	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10119568	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10119693	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10121449	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10121899	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738598	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10738601	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757244	0.81[EUR][1000 genomes]
rs10757257	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10811603	0.81[EUR][1000 genomes]
rs10811608	0.81[EUR][1000 genomes]
rs10811623	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10811625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10811626	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10811629	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs10965128	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10965133	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10965134	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10965135	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10965141	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10965143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965145	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965153	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs11523031	0.90[ASN][1000 genomes]
rs11532907	0.83[ASN][1000 genomes]
rs12555601	0.81[EUR][1000 genomes]
rs13298275	0.81[EUR][1000 genomes]
rs1335503	0.81[EUR][1000 genomes]
rs1335510	0.82[EUR][1000 genomes]
rs1335511	0.82[EUR][1000 genomes]
rs1341866	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1345020	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1345023	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1345024	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1414243	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs1414253	0.82[EUR][1000 genomes]
rs1561650	0.82[EUR][1000 genomes]
rs2165409	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs3900787	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3922992	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4265275	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4364717	0.92[CEU][hapmap]
rs4615669	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4977567	0.89[ASN][1000 genomes]
rs4977733	0.90[ASN][1000 genomes]
rs58377678	0.90[ASN][1000 genomes]
rs7022754	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7023329	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7023954	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7029036	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7033879	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7038523	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7049092	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7863090	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7863942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7868783	0.90[ASN][1000 genomes]
rs958219	0.82[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	chr9:21804000-21810800	Weak transcription	Right Ventricle	heart
2	chr9:21804000-21814200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:21804000-21817600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:21804000-21838200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:21804200-21810800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:21804200-21813200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:21804200-21813200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:21804400-21813200	Weak transcription	Colonic Mucosa	Colon
9	chr9:21804400-21816000	Weak transcription	Fetal Kidney	kidney
10	chr9:21804600-21810400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:21804800-21813600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:21805000-21809000	Weak transcription	Adipose Nuclei	Adipose
13	chr9:21805000-21809000	Weak transcription	HSMMtube	muscle
14	chr9:21805000-21809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:21805000-21809800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:21805000-21809800	Weak transcription	NHDF-Ad	bronchial
17	chr9:21805000-21810800	Weak transcription	Brain Anterior Caudate	brain
18	chr9:21805000-21811200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:21805000-21812000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:21805000-21813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr9:21805000-21816200	Weak transcription	Fetal Brain Male	brain
22	chr9:21805200-21809000	Weak transcription	Fetal Lung	lung
23	chr9:21805200-21810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:21805200-21810800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:21805200-21810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:21805200-21812800	Strong transcription	Fetal Stomach	stomach
27	chr9:21805200-21813200	Weak transcription	Psoas Muscle	Psoas
28	chr9:21805200-21813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr9:21805400-21812600	Strong transcription	Fetal Intestine Large	intestine
30	chr9:21805600-21810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:21805800-21809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:21805800-21809200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:21805800-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:21805800-21813200	Weak transcription	Brain Angular Gyrus	brain
35	chr9:21806000-21809200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr9:21806000-21812400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:21806000-21812600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:21806000-21817600	Genic enhancers	HMEC	breast
39	chr9:21806200-21809800	Strong transcription	NHEK	skin
40	chr9:21806200-21810000	Weak transcription	Fetal Brain Female	brain
41	chr9:21806200-21813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:21806400-21812200	Strong transcription	Fetal Intestine Small	intestine
43	chr9:21806400-21812400	Strong transcription	HepG2	liver
44	chr9:21806400-21812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:21806400-21813200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr9:21806400-21813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:21806400-21819800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:21806600-21810800	Weak transcription	Pancreas	Pancrea
49	chr9:21806600-21812200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr9:21806600-21812400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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