Variant report

Variant	rs1290244
Chromosome Location	chr15:57793184-57793185
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	chr15:57627655..57630463-chr15:57790410..57793260,2	K562	blood:
2	chr15:57785599..57788871-chr15:57789912..57793304,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1280355	1.00[JPT][hapmap]
rs1280368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1280371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1280372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1280373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1280386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16953334	1.00[EUR][1000 genomes]
rs16977546	1.00[EUR][1000 genomes]
rs16977553	1.00[EUR][1000 genomes]
rs16977555	1.00[EUR][1000 genomes]
rs16977563	1.00[EUR][1000 genomes]
rs16977581	1.00[EUR][1000 genomes]
rs16977583	1.00[EUR][1000 genomes]
rs16977584	1.00[EUR][1000 genomes]
rs16977600	1.00[EUR][1000 genomes]
rs28540249	1.00[EUR][1000 genomes]
rs28547400	1.00[EUR][1000 genomes]
rs28707698	1.00[EUR][1000 genomes]
rs2922223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2922226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2932191	1.00[JPT][hapmap]
rs2934446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2934448	1.00[JPT][hapmap]
rs2942042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2942046	1.00[JPT][hapmap]
rs55782827	1.00[EUR][1000 genomes]
rs56091272	1.00[EUR][1000 genomes]
rs56179101	1.00[EUR][1000 genomes]
rs56810932	1.00[EUR][1000 genomes]
rs58764014	1.00[EUR][1000 genomes]
rs60767381	1.00[EUR][1000 genomes]
rs60973024	1.00[EUR][1000 genomes]
rs7167118	1.00[EUR][1000 genomes]
rs7172617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7173602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7174171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7174185	1.00[EUR][1000 genomes]
rs7174359	1.00[EUR][1000 genomes]
rs73421833	1.00[EUR][1000 genomes]
rs73421838	1.00[EUR][1000 genomes]
rs73421863	1.00[EUR][1000 genomes]
rs73421865	1.00[EUR][1000 genomes]
rs73421901	1.00[EUR][1000 genomes]
rs73423507	1.00[EUR][1000 genomes]
rs73423512	1.00[EUR][1000 genomes]
rs73423518	1.00[EUR][1000 genomes]
rs73423522	1.00[EUR][1000 genomes]
rs73423541	1.00[EUR][1000 genomes]
rs73423555	1.00[EUR][1000 genomes]
rs73423558	1.00[EUR][1000 genomes]
rs73423560	1.00[EUR][1000 genomes]
rs73423562	1.00[EUR][1000 genomes]
rs73423566	1.00[EUR][1000 genomes]
rs73423591	1.00[EUR][1000 genomes]
rs74016229	1.00[EUR][1000 genomes]
rs74016236	1.00[EUR][1000 genomes]
rs74018224	1.00[EUR][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:57 , 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	chr15:57787800-57793200	Weak transcription	NHDF-Ad	bronchial
11	chr15:57788200-57793400	Weak transcription	HUVEC	blood vessel
12	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
13	chr15:57788400-57793600	Weak transcription	Ovary	ovary
14	chr15:57789400-57796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr15:57790000-57793400	Weak transcription	Liver	Liver
17	chr15:57790000-57794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:57790000-57794800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:57790000-57796800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:57790000-57797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
22	chr15:57790200-57793400	Weak transcription	Esophagus	oesophagus
23	chr15:57790200-57793400	Weak transcription	Placenta	Placenta
24	chr15:57790200-57793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:57790200-57793800	Weak transcription	Fetal Intestine Large	intestine
26	chr15:57790200-57794200	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:57790200-57794400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:57790200-57794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:57790200-57797600	Weak transcription	Brain Anterior Caudate	brain
30	chr15:57790200-57799000	Enhancers	HepG2	liver
31	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:57790400-57793200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:57790400-57793800	Weak transcription	Left Ventricle	heart
34	chr15:57790400-57794000	Weak transcription	Fetal Lung	lung
35	chr15:57790400-57795600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:57790600-57793200	Weak transcription	Stomach Mucosa	stomach
37	chr15:57790600-57793600	Weak transcription	Fetal Intestine Small	intestine
38	chr15:57791000-57793200	Weak transcription	Gastric	stomach
39	chr15:57791200-57795200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:57791400-57793600	Weak transcription	Lung	lung
41	chr15:57791400-57795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:57791400-57796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:57792000-57799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:57792000-57799000	Enhancers	Pancreas	Pancrea
45	chr15:57792200-57794200	Enhancers	Right Atrium	heart
46	chr15:57792200-57795000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr15:57792200-57799000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:57792600-57793800	Weak transcription	Fetal Stomach	stomach
49	chr15:57792800-57793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:57792800-57793200	Enhancers	Fetal Kidney	kidney

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