Variant report

Variant	rs11143991
Chromosome Location	chr9:71461024-71461025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11143615	0.91[EUR][1000 genomes]
rs11143622	1.00[EUR][1000 genomes]
rs11143638	0.91[EUR][1000 genomes]
rs11143694	0.91[EUR][1000 genomes]
rs11143732	0.82[EUR][1000 genomes]
rs11143734	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11143833	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11143868	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11143893	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11143900	0.82[ASN][1000 genomes]
rs11143995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11143997	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11144031	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11144059	0.80[ASN][1000 genomes]
rs11144102	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11144115	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12236602	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6560369	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7035760	0.83[AMR][1000 genomes]
rs7866988	0.83[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	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	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
13	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
14	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71440600-71466600	Weak transcription	Gastric	stomach
4	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
6	chr9:71458200-71466200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:71458600-71464200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:71458800-71465000	Weak transcription	Fetal Intestine Large	intestine
9	chr9:71459000-71466600	Weak transcription	Pancreas	Pancrea
10	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
11	chr9:71459400-71480000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:71459600-71462600	Weak transcription	Right Ventricle	heart
13	chr9:71459800-71478600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr9:71460000-71464200	Weak transcription	Fetal Intestine Small	intestine
15	chr9:71460200-71461400	Weak transcription	Fetal Heart	heart
16	chr9:71460400-71495600	Weak transcription	Aorta	Aorta
17	chr9:71460600-71462200	Weak transcription	Left Ventricle	heart
18	chr9:71460600-71462800	Weak transcription	Primary B cells from cord blood	blood
19	chr9:71460600-71466400	Weak transcription	Right Atrium	heart
20	chr9:71460600-71473800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:71460800-71461200	Weak transcription	GM12878-XiMat	blood
22	chr9:71460800-71462800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood

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