Variant report

Variant	rs1111782
Chromosome Location	chr9:27212966-27212967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10812533	0.96[ASN][1000 genomes]
rs10812534	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[ASN][1000 genomes]
rs10812535	0.96[ASN][1000 genomes]
rs10967772	0.96[ASN][1000 genomes]
rs1111781	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1334810	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1360772	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1360773	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1923332	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs36080066	0.96[ASN][1000 genomes]
rs3737187	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4242670	0.86[JPT][hapmap]
rs491892	0.86[JPT][hapmap]
rs510101	0.81[JPT][hapmap]
rs538294	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs558897	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs560551	0.91[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs573722	0.86[JPT][hapmap]
rs606342	0.95[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs638203	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs639225	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs654494	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs655392	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs655880	0.86[JPT][hapmap]
rs671353	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs684992	0.82[ASN][1000 genomes]
rs686256	0.81[JPT][hapmap]
rs692946	0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs7021962	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7025037	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866473	0.84[ASN][1000 genomes]
rs7870177	0.85[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	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892864	chr9:27176554-27296705	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv466335	chr9:27179244-27234029	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv613946	chr9:27179244-27234029	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1027482	chr9:27195840-27233157	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1018864	chr9:27195840-27294815	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2761268	chr9:27195852-27291261	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv466336	chr9:27196119-27292703	Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv471294	chr9:27196119-27292703	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv613947	chr9:27196119-27292703	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1033002	chr9:27199373-27232601	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:27193000-27220000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:27195200-27221800	Weak transcription	Fetal Intestine Large	intestine
7	chr9:27196800-27228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:27198400-27219800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:27198400-27219800	Weak transcription	Ovary	ovary
10	chr9:27201400-27224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:27202400-27220600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:27203800-27218600	Weak transcription	Aorta	Aorta
13	chr9:27205000-27217200	Weak transcription	Right Ventricle	heart
14	chr9:27205000-27217600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:27207400-27216800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:27209600-27213800	Weak transcription	Fetal Stomach	stomach
17	chr9:27210600-27219200	Weak transcription	Fetal Intestine Small	intestine
18	chr9:27211600-27215200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:27211800-27231600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:27212000-27213000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:27212000-27226800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:27212200-27213000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:27212400-27213000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:27212400-27213000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr9:27212400-27213000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
26	chr9:27212400-27214600	Strong transcription	Left Ventricle	heart
27	chr9:27212400-27215000	Strong transcription	HUVEC	blood vessel
28	chr9:27212400-27216600	Weak transcription	Brain Substantia Nigra	brain
29	chr9:27212600-27213000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:27212600-27214000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr9:27212600-27223000	Strong transcription	Adipose Nuclei	Adipose
32	chr9:27212800-27214000	Strong transcription	Lung	lung
33	chr9:27212800-27215400	Strong transcription	Spleen	Spleen
34	chr9:27212800-27220800	Weak transcription	Placenta	Placenta

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