Variant report

Variant	rs1280373
Chromosome Location	chr15:57789292-57789293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57777677..57780127-chr15:57786834..57789579,2	K562	blood:

Extended variants
information (count: 23 )
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];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1280371	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1280372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1280386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1290244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2922223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2922226	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2932191	1.00[JPT][hapmap]
rs2934446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs2934448	0.86[JPT][hapmap]
rs2942042	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2942046	0.86[JPT][hapmap]
rs7172617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs7173602	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7174171	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[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	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	nsv457170	chr15:57644456-57790436	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv569588	chr15:57644456-57790436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:61 , 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	chr15:57786600-57790000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:57786800-57790000	Enhancers	Right Ventricle	heart
11	chr15:57787000-57790200	Enhancers	Fetal Intestine Large	intestine
12	chr15:57787000-57790400	Enhancers	Fetal Lung	lung
13	chr15:57787000-57791000	Enhancers	Pancreas	Pancrea
14	chr15:57787200-57790600	Enhancers	Stomach Mucosa	stomach
15	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
16	chr15:57787400-57790000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:57787400-57790600	Enhancers	Fetal Intestine Small	intestine
18	chr15:57787400-57791000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:57787600-57790000	Enhancers	Liver	Liver
20	chr15:57787600-57793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:57787800-57791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:57787800-57793200	Weak transcription	NHDF-Ad	bronchial
23	chr15:57788000-57790000	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:57788200-57790400	Enhancers	Left Ventricle	heart
25	chr15:57788200-57790400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr15:57788200-57790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:57788200-57793400	Weak transcription	HUVEC	blood vessel
28	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
29	chr15:57788400-57790000	Enhancers	Right Atrium	heart
30	chr15:57788400-57790200	Enhancers	Placenta	Placenta
31	chr15:57788400-57790400	Enhancers	Gastric	stomach
32	chr15:57788400-57791400	Enhancers	Lung	lung
33	chr15:57788400-57793600	Weak transcription	Ovary	ovary
34	chr15:57788600-57789400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:57788600-57789800	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:57788600-57790400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr15:57788600-57792800	Weak transcription	Fetal Kidney	kidney
38	chr15:57788800-57789400	Enhancers	Colonic Mucosa	Colon
39	chr15:57788800-57789800	Weak transcription	Fetal Brain Male	brain
40	chr15:57788800-57790000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr15:57788800-57790200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:57788800-57790400	Enhancers	Stomach Smooth Muscle	stomach
43	chr15:57789000-57789400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:57789000-57789400	Flanking Active TSS	HepG2	liver
45	chr15:57789000-57789600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:57789000-57789600	Enhancers	Brain Substantia Nigra	brain
47	chr15:57789000-57789600	Genic enhancers	Fetal Stomach	stomach
48	chr15:57789000-57789800	Enhancers	Brain Cingulate Gyrus	brain
49	chr15:57789000-57790000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:57789000-57790000	Enhancers	Brain Hippocampus Middle	brain

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