Variant report

Variant	rs940119
Chromosome Location	chr9:14906948-14906949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10122340	0.81[AMR][1000 genomes]
rs10961784	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs10961785	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1412725	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1855142	0.94[CEU][hapmap];0.87[CHB][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4147129	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4543641	0.82[CHB][hapmap]
rs6474870	0.92[EUR][1000 genomes]
rs7034380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7861117	0.82[AMR][1000 genomes]
rs940120	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1018416	chr9:14846753-14921247	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14884200-14907400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:14903200-14908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:14904400-14907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:14904600-14907400	Enhancers	HepG2	liver
5	chr9:14904600-14907600	Enhancers	Pancreas	Pancrea
6	chr9:14904800-14908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:14905400-14908400	Enhancers	Fetal Muscle Leg	muscle
8	chr9:14905800-14907400	Weak transcription	Right Atrium	heart
9	chr9:14905800-14907600	Enhancers	Fetal Stomach	stomach
10	chr9:14906000-14907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:14906000-14907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:14906000-14908200	Enhancers	Fetal Intestine Small	intestine
13	chr9:14906000-14909000	Enhancers	Fetal Heart	heart
14	chr9:14906200-14907400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:14906200-14907400	Enhancers	Duodenum Mucosa	Duodenum
16	chr9:14906200-14907400	Enhancers	Small Intestine	intestine
17	chr9:14906200-14908000	Enhancers	K562	blood
18	chr9:14906200-14908200	Enhancers	Fetal Intestine Large	intestine
19	chr9:14906200-14908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:14906200-14909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:14906200-14910000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:14906400-14907000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:14906400-14907600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr9:14906400-14908800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:14906400-14908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:14906400-14909000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:14906600-14907000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:14906600-14907200	Flanking Active TSS	Fetal Kidney	kidney
29	chr9:14906600-14907800	Enhancers	Rectal Smooth Muscle	rectum
30	chr9:14906600-14908200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:14906600-14908400	Enhancers	Adipose Nuclei	Adipose
32	chr9:14906600-14908600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:14906600-14909400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:14906600-14909400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:14906600-14909600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:14906800-14907000	Weak transcription	Aorta	Aorta
37	chr9:14906800-14907200	Flanking Active TSS	Fetal Lung	lung
38	chr9:14906800-14908000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:14906800-14908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:14906800-14909000	Enhancers	Sigmoid Colon	Sigmoid Colon

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