Variant report

Variant	rs1414952
Chromosome Location	chr9:71510126-71510127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71509323..71512196-chr9:71514082..71515973,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10448322	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448338	1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869320	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143761	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143777	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143870	1.00[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143882	1.00[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143938	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143951	1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143988	1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144059	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11144063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144074	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144136	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144138	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144152	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144154	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144178	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144181	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144206	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11144215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144274	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11144305	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144327	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144351	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003432	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12376037	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376991	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377033	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379061	1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555680	1.00[ASN][1000 genomes]
rs1414951	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414954	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057680	1.00[ASN][1000 genomes]
rs17058634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058792	0.88[EUR][1000 genomes]
rs17391456	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391582	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483165	1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376559	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744737	1.00[ASN][1000 genomes]
rs62552132	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566870	1.00[ASN][1000 genomes]
rs62566871	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566915	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566916	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569349	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62571161	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042283	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72717956	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720053	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722034	1.00[ASN][1000 genomes]
rs7865397	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
17	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:71487400-71510400	Weak transcription	Gastric	stomach
4	chr9:71492400-71515000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:71495800-71510800	Weak transcription	Aorta	Aorta
6	chr9:71496600-71515200	Weak transcription	HepG2	liver
7	chr9:71500200-71512000	Weak transcription	Placenta	Placenta
8	chr9:71502000-71510400	Weak transcription	Right Ventricle	heart
9	chr9:71502600-71516600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:71505400-71512000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:71506200-71511400	Weak transcription	Fetal Intestine Small	intestine
12	chr9:71506400-71510400	Weak transcription	Fetal Intestine Large	intestine
13	chr9:71508800-71512600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr9:71508800-71515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:71509000-71511200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr9:71509000-71512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:71509200-71510600	Enhancers	Primary B cells from cord blood	blood
18	chr9:71509200-71511000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:71509200-71512000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr9:71509200-71514600	Enhancers	Fetal Heart	heart
21	chr9:71509400-71510200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:71509400-71510200	Enhancers	GM12878-XiMat	blood
23	chr9:71509400-71510400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:71509400-71510400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:71509400-71510400	Enhancers	Stomach Mucosa	stomach
26	chr9:71509400-71510600	Weak transcription	Brain Substantia Nigra	brain
27	chr9:71509400-71510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:71509400-71511200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:71509400-71511600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr9:71509600-71510200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:71509600-71510400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:71509600-71510400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:71509600-71510600	Enhancers	Primary hematopoietic stem cells	blood
34	chr9:71509600-71510800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:71509600-71511400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:71509600-71511600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr9:71509600-71512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:71509600-71513000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr9:71509800-71510200	Bivalent Enhancer	HUVEC	blood vessel
40	chr9:71509800-71510400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:71509800-71510600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr9:71509800-71510600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr9:71509800-71510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:71509800-71510800	Enhancers	Primary B cells from peripheral blood	blood
45	chr9:71509800-71510800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr9:71509800-71511000	Enhancers	Adipose Nuclei	Adipose
47	chr9:71509800-71511600	Enhancers	Fetal Lung	lung
48	chr9:71509800-71511800	Weak transcription	Lung	lung
49	chr9:71509800-71512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:71509800-71512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links