Variant report

Variant	rs12000046
Chromosome Location	chr9:71331412-71331413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71329696..71331473-chr9:71338572..71340155,2	K562	blood:
2	chr9:71317604..71326808-chr9:71328532..71337502,16	K562	blood:
3	chr9:71319095..71321406-chr9:71328532..71331423,2	K562	blood:
4	chr9:71329093..71331549-chr9:71334294..71336227,2	K562	blood:
5	chr9:71318556..71321196-chr9:71331205..71333061,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10114112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10115067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10115418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123673	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10125301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869219	0.82[AMR][1000 genomes]
rs10869224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11143558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12352713	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58093852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
2	chr9:71322200-71335000	Weak transcription	Placenta	Placenta
3	chr9:71322800-71333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:71323400-71331800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:71323600-71335800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:71325200-71332200	Strong transcription	Primary B cells from cord blood	blood
8	chr9:71326400-71333400	Weak transcription	Brain Germinal Matrix	brain
9	chr9:71327400-71332400	Weak transcription	HepG2	liver
10	chr9:71327400-71333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:71328000-71332000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71328200-71337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:71329600-71332400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:71330000-71331800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:71330000-71332600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:71330000-71335400	Enhancers	Stomach Mucosa	stomach
17	chr9:71330200-71333400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:71330200-71335800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr9:71330200-71342600	Weak transcription	GM12878-XiMat	blood
20	chr9:71330400-71331600	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:71330400-71331800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:71330400-71332400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:71330400-71332800	Weak transcription	K562	blood
24	chr9:71330400-71333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:71330400-71336400	Weak transcription	Right Atrium	heart
26	chr9:71330600-71331800	Weak transcription	Colonic Mucosa	Colon
27	chr9:71330600-71332000	Weak transcription	Fetal Intestine Small	intestine
28	chr9:71330600-71332400	Weak transcription	Left Ventricle	heart
29	chr9:71331000-71332000	Weak transcription	Fetal Intestine Large	intestine
30	chr9:71331000-71334600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:71331000-71336400	Weak transcription	Right Ventricle	heart
32	chr9:71331400-71332200	Enhancers	Small Intestine	intestine
33	chr9:71331400-71334200	Enhancers	Fetal Heart	heart

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