Variant report

Variant	rs751819
Chromosome Location	chr15:45880498-45880499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45878113-45881140	HepG2	liver:	n/a	n/a
2	MAFK	chr15:45879252-45880734	IMR90	lung:	n/a	chr15:45880420-45880431 chr15:45879401-45879417 chr15:45880420-45880431 chr15:45880419-45880430 chr15:45880419-45880430 chr15:45879398-45879413
3	POLR2A	chr15:45880464-45880536	HepG2	liver:	n/a	n/a
4	HCFC1	chr15:45878355-45881226	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:45878113-45880658	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr15:45878135-45881322	SK-N-SH	brain:	n/a	n/a
7	REST	chr15:45878015-45880689	H1-neurons	neurons:	n/a	chr15:45879843-45879863
8	POLR2A	chr15:45878348-45880823	IMR90	lung:	n/a	n/a
9	USF2	chr15:45879872-45880626	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:45878390-45880792	PBDE	blood:	n/a	n/a
11	MAZ	chr15:45878856-45880521	IMR90	lung:	n/a	n/a
12	MAX	chr15:45880469-45880721	NB4	blood:	n/a	n/a
13	CHD1	chr15:45878761-45881956	IMR90	lung:	n/a	chr15:45879275-45879285
14	POLR2A	chr15:45877418-45881150	K562	blood:	n/a	n/a
15	EBF1	chr15:45878864-45880579	GM12878	blood:	n/a	n/a
16	TFAP2C	chr15:45879139-45880632	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:45878253-45880837	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:
2	chr15:45694563..45696942-chr15:45878361..45881039,2	K562	blood:
3	chr15:45813492..45816353-chr15:45876550..45880712,4	MCF-7	breast:
4	chr15:45855963..45859182-chr15:45877803..45880512,3	MCF-7	breast:
5	chr15:45490877..45493855-chr15:45879081..45881062,2	K562	blood:
6	chr15:45877908..45881944-chr15:45926466..45928753,3	MCF-7	breast:
7	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
8	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
9	chr15:45878966..45881006-chr15:45882996..45885480,3	MCF-7	breast:
10	chr15:45740795..45743926-chr15:45878461..45880935,3	MCF-7	breast:
11	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
12	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
13	chr15:45875078..45876854-chr15:45880097..45881754,2	MCF-7	breast:
14	chr15:45880183..45881884-chr15:45892162..45895627,3	K562	blood:
15	chr15:45813395..45816326-chr15:45879088..45881474,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200419	TF binding region
BLOC1S6	TF binding region
ENSG00000259932	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000200419	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000179362	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259427	Chromatin interaction
ENSG00000104154	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10152775	0.86[AMR][1000 genomes]
rs10152792	0.86[AMR][1000 genomes]
rs1153841	1.00[MEX][hapmap]
rs1288849	1.00[MEX][hapmap]
rs13376	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1442797	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1529353	0.86[AMR][1000 genomes]
rs1529354	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs1547488	1.00[MEX][hapmap]
rs1547489	1.00[MEX][hapmap]
rs1547490	1.00[MEX][hapmap]
rs1559892	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1629871	1.00[MEX][hapmap]
rs16944196	1.00[MEX][hapmap]
rs16944305	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs16945588	0.88[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs16945605	0.96[YRI][hapmap]
rs1970374	0.86[AMR][1000 genomes]
rs2467874	1.00[MEX][hapmap]
rs2467875	1.00[MEX][hapmap]
rs3858908	0.86[AMR][1000 genomes]
rs4598849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58055978	0.86[AMR][1000 genomes]
rs58078831	0.86[AMR][1000 genomes]
rs60561729	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61169737	0.86[AMR][1000 genomes]
rs61186343	0.86[AMR][1000 genomes]
rs61500896	0.86[AMR][1000 genomes]
rs61756712	0.86[AMR][1000 genomes]
rs6493153	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs679569	0.88[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs7163098	0.93[AMR][1000 genomes]
rs7165846	0.86[AMR][1000 genomes]
rs7166434	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs7168313	0.81[AMR][1000 genomes]
rs7168672	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7169748	0.83[YRI][hapmap]
rs7170941	0.86[AMR][1000 genomes]
rs7173046	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7173983	0.83[YRI][hapmap]
rs7183382	0.94[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs719018	0.88[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs719019	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414486	0.86[AMR][1000 genomes]
rs73416403	0.86[AMR][1000 genomes]
rs73416407	0.86[AMR][1000 genomes]
rs73416479	0.86[AMR][1000 genomes]
rs73416487	0.86[AMR][1000 genomes]
rs73418308	0.86[AMR][1000 genomes]
rs73418387	0.86[AMR][1000 genomes]
rs73418395	0.86[AMR][1000 genomes]
rs73420403	0.86[AMR][1000 genomes]
rs73420405	0.86[AMR][1000 genomes]
rs73420406	0.86[AMR][1000 genomes]
rs73420408	0.86[AMR][1000 genomes]
rs73420409	0.86[AMR][1000 genomes]
rs73420412	0.86[AMR][1000 genomes]
rs73420415	0.86[AMR][1000 genomes]
rs73420427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420456	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7342662	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7495403	0.86[AMR][1000 genomes]
rs8025600	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8027324	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8029983	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8034420	0.86[AMR][1000 genomes]
rs8042179	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8042253	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8042662	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045556	chr15:45777396-45884854	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats 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	57 gene(s)	inside rSNPs	diseases
3	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45877400-45881800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:45878000-45880800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:45878200-45880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:45878200-45880800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr15:45878200-45880800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:45878200-45880800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:45878400-45880600	Active TSS	HSMMtube	muscle
8	chr15:45878400-45881000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:45878400-45881000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:45878400-45881200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:45878600-45880600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:45878600-45880600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:45878600-45880600	Active TSS	Left Ventricle	heart
14	chr15:45878600-45880800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:45878600-45880800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:45878600-45880800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:45878600-45880800	Active TSS	Ovary	ovary
18	chr15:45878600-45880800	Active TSS	K562	blood
19	chr15:45878600-45881000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:45878600-45881000	Active TSS	Fetal Muscle Trunk	muscle
21	chr15:45878600-45881800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:45878800-45880600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:45878800-45880600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:45878800-45880600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:45878800-45880600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:45878800-45880600	Active TSS	Brain Hippocampus Middle	brain
27	chr15:45878800-45880600	Active TSS	Colon Smooth Muscle	Colon
28	chr15:45878800-45880600	Active TSS	Fetal Brain Male	brain
29	chr15:45878800-45880600	Active TSS	Fetal Stomach	stomach
30	chr15:45878800-45880600	Active TSS	Fetal Thymus	thymus
31	chr15:45878800-45880600	Active TSS	Pancreas	Pancrea
32	chr15:45878800-45880600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr15:45878800-45880600	Active TSS	Psoas Muscle	Psoas
34	chr15:45878800-45880600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:45878800-45880600	Active TSS	Small Intestine	intestine
36	chr15:45878800-45880600	Active TSS	NHDF-Ad	bronchial
37	chr15:45878800-45880800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:45878800-45880800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr15:45878800-45880800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:45878800-45880800	Active TSS	Aorta	Aorta
41	chr15:45878800-45880800	Active TSS	Esophagus	oesophagus
42	chr15:45878800-45880800	Active TSS	Right Ventricle	heart
43	chr15:45878800-45881000	Active TSS	Fetal Intestine Large	intestine
44	chr15:45878800-45881000	Active TSS	GM12878-XiMat	blood
45	chr15:45878800-45881400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr15:45879000-45880600	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr15:45879000-45880600	Active TSS	Colonic Mucosa	Colon
48	chr15:45879000-45880600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr15:45879000-45880600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:45879000-45880600	Active TSS	Hela-S3	cervix

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