Variant report

Variant	rs4147129
Chromosome Location	chr9:14907432-14907433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10961784	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10961785	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1412725	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1855142	0.87[CHB][hapmap]
rs4543641	0.88[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs7034380	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs940119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs940120	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14903200-14908600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:14904600-14907600	Enhancers	Pancreas	Pancrea
3	chr9:14904800-14908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:14905400-14908400	Enhancers	Fetal Muscle Leg	muscle
5	chr9:14905800-14907600	Enhancers	Fetal Stomach	stomach
6	chr9:14906000-14907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:14906000-14908200	Enhancers	Fetal Intestine Small	intestine
8	chr9:14906000-14909000	Enhancers	Fetal Heart	heart
9	chr9:14906200-14908000	Enhancers	K562	blood
10	chr9:14906200-14908200	Enhancers	Fetal Intestine Large	intestine
11	chr9:14906200-14908400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:14906200-14909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:14906200-14910000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:14906400-14907600	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr9:14906400-14908800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr9:14906400-14908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:14906400-14909000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:14906600-14907800	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:14906600-14908200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:14906600-14908400	Enhancers	Adipose Nuclei	Adipose
21	chr9:14906600-14908600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:14906600-14909400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14906600-14909400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:14906600-14909600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:14906800-14908000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:14906800-14908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:14906800-14909000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:14907000-14908000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:14907000-14910000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:14907200-14907600	Flanking Active TSS	Aorta	Aorta
31	chr9:14907200-14907600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr9:14907200-14907800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:14907200-14907800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr9:14907200-14908000	Active TSS	Fetal Lung	lung
35	chr9:14907200-14910400	Active TSS	Fetal Kidney	kidney
36	chr9:14907400-14907600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr9:14907400-14907600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:14907400-14907600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:14907400-14907600	Enhancers	Brain Substantia Nigra	brain
40	chr9:14907400-14907600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr9:14907400-14907600	Enhancers	Fetal Muscle Trunk	muscle
42	chr9:14907400-14907600	Enhancers	Psoas Muscle	Psoas
43	chr9:14907400-14907800	Enhancers	Right Atrium	heart
44	chr9:14907400-14907800	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:14907400-14908800	Enhancers	Placenta	Placenta
46	chr9:14907400-14908800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:14907400-14909200	Flanking Active TSS	HepG2	liver
48	chr9:14907400-14910800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:14907400-14915000	Weak transcription	Small Intestine	intestine

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