Variant report

Variant	rs7172617
Chromosome Location	chr15:57793530-57793531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1280355	0.86[JPT][hapmap]
rs1280368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1280371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1280372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1280373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs1280386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1290244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2922223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2922226	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2932191	1.00[JPT][hapmap]
rs2934446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2934448	0.86[JPT][hapmap]
rs2942042	1.00[JPT][hapmap]
rs2942046	0.86[JPT][hapmap]
rs7173602	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7174171	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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
5	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:57779000-57794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:57779000-57794400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:57779400-57794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
10	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
11	chr15:57788400-57793600	Weak transcription	Ovary	ovary
12	chr15:57789400-57796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:57790000-57794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57790000-57794800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:57790000-57796800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:57790000-57797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
19	chr15:57790200-57793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:57790200-57793800	Weak transcription	Fetal Intestine Large	intestine
21	chr15:57790200-57794200	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:57790200-57794400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:57790200-57794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:57790200-57797600	Weak transcription	Brain Anterior Caudate	brain
25	chr15:57790200-57799000	Enhancers	HepG2	liver
26	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:57790400-57793800	Weak transcription	Left Ventricle	heart
28	chr15:57790400-57794000	Weak transcription	Fetal Lung	lung
29	chr15:57790400-57795600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:57790600-57793600	Weak transcription	Fetal Intestine Small	intestine
31	chr15:57791200-57795200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:57791400-57793600	Weak transcription	Lung	lung
33	chr15:57791400-57795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:57791400-57796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:57792000-57799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:57792000-57799000	Enhancers	Pancreas	Pancrea
37	chr15:57792200-57794200	Enhancers	Right Atrium	heart
38	chr15:57792200-57795000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:57792200-57799000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:57792600-57793800	Weak transcription	Fetal Stomach	stomach
41	chr15:57793000-57794600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:57793000-57794600	Enhancers	NHEK	skin
43	chr15:57793000-57795600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:57793000-57797000	Enhancers	Right Ventricle	heart
45	chr15:57793000-57799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:57793200-57794200	Weak transcription	Fetal Kidney	kidney
47	chr15:57793200-57794200	Enhancers	Gastric	stomach
48	chr15:57793200-57794200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr15:57793200-57794800	Enhancers	NHDF-Ad	bronchial
50	chr15:57793200-57795400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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