Variant report

Variant	rs4777504
Chromosome Location	chr15:72660670-72660671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72660052..72661960-chr15:72663740..72668025,4	MCF-7	breast:
2	chr15:72653916..72656612-chr15:72659800..72662436,2	K562	blood:
3	chr15:72660510..72663608-chr15:72764626..72767270,3	MCF-7	breast:
4	chr15:72658842..72661325-chr15:72665023..72667156,2	K562	blood:
5	chr15:72655383..72663093-chr15:72663659..72669928,14	K562	blood:

Variant related genes	Relation type
ENSG00000260729	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10152810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10467945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11629508	0.82[AMR][1000 genomes]
rs11857752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12437909	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12439082	0.86[ASN][1000 genomes]
rs12440768	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12442850	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12591626	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12593434	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595243	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs12595339	0.86[ASN][1000 genomes]
rs12904366	0.94[AMR][1000 genomes]
rs12915032	0.82[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs16956783	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16956788	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16956884	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16956890	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16956893	0.82[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs16956917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16956997	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16957050	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs17841142	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1800428	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972692	0.89[ASW][hapmap]
rs2288259	0.82[MEX][hapmap]
rs2303448	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs2303449	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs3087652	0.82[AMR][1000 genomes]
rs35778233	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3784586	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4556749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4777503	0.86[AMR][1000 genomes]
rs4777505	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777506	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777507	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7167521	0.86[ASN][1000 genomes]
rs7174287	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039489	0.86[AFR][1000 genomes]
rs963375	0.82[MEX][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
2	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:72640600-72667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:72641800-72664800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72642000-72667000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:72648400-72667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:72648600-72667000	Weak transcription	Colonic Mucosa	Colon
9	chr15:72648600-72667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:72648800-72667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:72649000-72662200	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:72649000-72667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:72649200-72660800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:72649200-72661600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:72649200-72662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:72649200-72663800	Weak transcription	Pancreas	Pancrea
17	chr15:72649200-72666800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:72649200-72667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:72649200-72667000	Weak transcription	Fetal Brain Female	brain
20	chr15:72649200-72667600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:72649400-72663400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:72649400-72666600	Weak transcription	Gastric	stomach
23	chr15:72649400-72667000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:72649600-72662400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:72649800-72660800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:72651400-72667200	Weak transcription	Brain Angular Gyrus	brain
27	chr15:72651600-72660800	Weak transcription	Lung	lung
28	chr15:72651600-72661200	Weak transcription	Stomach Mucosa	stomach
29	chr15:72651600-72661400	Weak transcription	Right Atrium	heart
30	chr15:72651600-72662600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:72651600-72667800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:72651800-72660800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:72651800-72661000	Weak transcription	Placenta	Placenta
34	chr15:72651800-72661400	Weak transcription	HUVEC	blood vessel
35	chr15:72651800-72662000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:72651800-72666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:72651800-72667000	Weak transcription	NHDF-Ad	bronchial
38	chr15:72651800-72667000	Weak transcription	Osteobl	bone
39	chr15:72651800-72667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:72651800-72667200	Weak transcription	HSMM	muscle
41	chr15:72651800-72667200	Weak transcription	NHLF	lung
42	chr15:72652000-72660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:72652000-72661000	Weak transcription	Fetal Stomach	stomach
44	chr15:72652000-72661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:72652000-72662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:72652000-72662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:72652000-72663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:72652000-72663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:72652000-72666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:72652400-72661600	Weak transcription	HMEC	breast

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