Variant report

Variant	rs2151421
Chromosome Location	chr9:71435693-71435694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10115536	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs10117744	0.84[ASN][1000 genomes]
rs10117946	0.91[ASN][1000 genomes]
rs10746942	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10781232	0.94[ASN][1000 genomes]
rs10869404	0.94[ASN][1000 genomes]
rs11143801	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11143802	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12686613	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1412988	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1414946	0.87[ASN][1000 genomes]
rs1537887	0.87[ASN][1000 genomes]
rs1556751	0.94[GIH][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17057642	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17057918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17081050	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1889150	0.86[ASW][hapmap];0.82[GIH][hapmap];0.82[MKK][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1889937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2027024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2039424	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2039425	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039625	0.81[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2151422	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750377	0.88[ASN][1000 genomes]
rs4237268	0.93[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4259475	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4744712	0.82[EUR][1000 genomes]
rs4745321	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4745351	0.88[ASN][1000 genomes]
rs4745354	0.86[ASN][1000 genomes]
rs4745359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs61196668	0.86[ASN][1000 genomes]
rs6560398	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6560407	0.86[ASN][1000 genomes]
rs7019684	0.94[ASN][1000 genomes]
rs7032651	0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7035999	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7039817	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7045163	0.86[ASN][1000 genomes]
rs7046065	0.86[ASN][1000 genomes]
rs7046284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.97[ASN][1000 genomes]
rs72512921	0.89[ASN][1000 genomes]
rs7851399	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7861710	0.93[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7865412	0.97[ASN][1000 genomes]
rs7869452	0.97[ASN][1000 genomes]
rs975123	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71414000-71437000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:71421000-71437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:71421200-71437200	Weak transcription	Stomach Mucosa	stomach
6	chr9:71421200-71437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:71421400-71443000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:71422600-71438200	Weak transcription	GM12878-XiMat	blood
9	chr9:71422600-71441000	Weak transcription	Fetal Stomach	stomach
10	chr9:71425000-71448600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:71427000-71437000	Weak transcription	Left Ventricle	heart
12	chr9:71428800-71437200	Weak transcription	Fetal Heart	heart
13	chr9:71432200-71437600	Weak transcription	Aorta	Aorta
14	chr9:71432400-71440200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:71432800-71445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:71433200-71435800	Strong transcription	Primary B cells from cord blood	blood
17	chr9:71433200-71435800	Weak transcription	Fetal Intestine Small	intestine
18	chr9:71433400-71436400	Weak transcription	Fetal Intestine Large	intestine
19	chr9:71433400-71449000	Weak transcription	HepG2	liver
20	chr9:71434400-71443600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:71434600-71436600	Weak transcription	K562	blood
22	chr9:71434800-71435800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:71435600-71440400	Weak transcription	Rectal Mucosa Donor 29	rectum

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