Variant report

Variant	rs4777530
Chromosome Location	chr15:73032768-73032769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73031972..73034195-chr15:73073763..73077197,3	MCF-7	breast:
2	chr15:73024661..73026711-chr15:73032748..73035379,2	K562	blood:

Variant related genes	Relation type
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11072384	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs11072387	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12439375	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12440951	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441084	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12592955	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12594667	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16957293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2012253	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2278543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415166	0.85[ASN][1000 genomes]
rs28398258	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28502551	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3179616	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34337823	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35136341	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35958407	0.97[EUR][1000 genomes]
rs3759870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3850988	0.95[JPT][hapmap]
rs4776611	0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4776616	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4777528	0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777529	0.84[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777531	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777533	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4777537	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777538	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4777543	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4777545	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56915357	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57621041	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58600393	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59049627	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59152128	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60405894	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60601886	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60674997	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61311866	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017593	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62017598	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017623	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7178409	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs72662112	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72737337	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs730180	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7495022	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7497429	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs8032586	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8033644	0.82[CHB][hapmap]

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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
2	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
4	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:73018800-73033400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:73020600-73034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
8	chr15:73021200-73034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:73021400-73033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:73021800-73033000	Strong transcription	Primary B cells from cord blood	blood
12	chr15:73022000-73033400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr15:73022800-73032800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:73022800-73032800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:73022800-73033600	Strong transcription	Liver	Liver
16	chr15:73022800-73034400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:73023000-73033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:73023200-73033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:73023600-73033200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:73024400-73046800	Weak transcription	Fetal Kidney	kidney
21	chr15:73024800-73044000	Weak transcription	HMEC	breast
22	chr15:73025800-73034400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:73026000-73034000	Strong transcription	Fetal Lung	lung
24	chr15:73026000-73034600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:73026600-73032800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:73026600-73033600	Strong transcription	Adipose Nuclei	Adipose
27	chr15:73026600-73035400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:73027000-73034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:73027200-73032800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:73027200-73032800	Strong transcription	Brain Germinal Matrix	brain
31	chr15:73027200-73032800	Strong transcription	Fetal Intestine Large	intestine
32	chr15:73027400-73033000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:73027400-73033200	Strong transcription	A549	lung
34	chr15:73027400-73033400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:73027400-73033600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:73027400-73035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:73028000-73032800	Strong transcription	HSMM	muscle
38	chr15:73028000-73034200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:73028200-73033200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:73029600-73043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:73030000-73044600	Weak transcription	Brain Substantia Nigra	brain
42	chr15:73030200-73042200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:73030200-73043200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr15:73030200-73043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:73030400-73035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:73030400-73043400	Weak transcription	Esophagus	oesophagus
47	chr15:73030400-73043600	Weak transcription	NHLF	lung
48	chr15:73030400-73044000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:73030400-73044000	Weak transcription	HepG2	liver
50	chr15:73030400-73046000	Weak transcription	Placenta Amnion	Placenta Amnion

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