Variant report

Variant	rs72713175
Chromosome Location	chr15:45878613-45878614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45878163-45880140	K562	blood:	n/a	n/a
2	POLR2A	chr15:45878151-45878646	K562	blood:	n/a	n/a
3	POLR2A	chr15:45878113-45881140	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:45878090-45880021	PANC-1	pancreas:	n/a	n/a
5	HCFC1	chr15:45878355-45881226	Hela-S3	cervix:	n/a	n/a
6	TBL1XR1	chr15:45878173-45880089	K562	blood:	n/a	n/a
7	POLR2A	chr15:45878432-45878944	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:45878113-45880658	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr15:45878135-45881322	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr15:45878045-45880372	GM12878	blood:	n/a	n/a
11	TAF1	chr15:45878507-45880319	H1-neurons	neurons:	n/a	n/a
12	REST	chr15:45878015-45880689	H1-neurons	neurons:	n/a	chr15:45879843-45879863
13	POLR2A	chr15:45878170-45880233	Raji	blood:	n/a	n/a
14	POLR2A	chr15:45878265-45880178	GM12892	blood:	n/a	n/a
15	POLR2A	chr15:45878159-45880238	GM12891	blood:	n/a	n/a
16	POLR2A	chr15:45878148-45880329	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr15:45878358-45880402	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:45878095-45880257	K562	blood:	n/a	n/a
19	POLR2A	chr15:45878240-45880285	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:45878163-45879865	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr15:45878348-45880823	IMR90	lung:	n/a	n/a
22	POLR2A	chr15:45878435-45879986	K562	blood:	n/a	n/a
23	IRF1	chr15:45878563-45880194	K562	blood:	n/a	chr15:45879765-45879779
24	POLR2A	chr15:45878367-45878767	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:45878390-45880792	PBDE	blood:	n/a	n/a
26	POLR2A	chr15:45878445-45880274	GM12891	blood:	n/a	n/a
27	POLR2A	chr15:45878511-45880236	NB4	blood:	n/a	n/a
28	YY1	chr15:45878608-45880236	H1-hESC	embryonic stem cell:	n/a	chr15:45879829-45879843
29	POLR2A	chr15:45878523-45879789	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:45878266-45880474	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:45878109-45880145	K562	blood:	n/a	n/a
32	POLR2A	chr15:45878525-45880181	GM19099	blood:	n/a	n/a
33	GATA1	chr15:45878446-45880452	PBDE	blood:	n/a	chr15:45878681-45878691
34	POLR2A	chr15:45877418-45881150	K562	blood:	n/a	n/a
35	POLR2A	chr15:45878524-45878658	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr15:45878446-45878761	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:45878054-45880180	GM12892	blood:	n/a	n/a
38	MTA3	chr15:45878319-45880314	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:45878132-45880072	K562	blood:	n/a	n/a
40	POLR2A	chr15:45878443-45880153	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr15:45878104-45880137	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:45878110-45880142	K562	blood:	n/a	n/a
43	POLR2A	chr15:45878281-45880263	HepG2	liver:	n/a	n/a
44	GTF2F1	chr15:45878536-45880246	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr15:45878172-45879950	SH-SY5Y	brain:	n/a	chr15:45878681-45878691
46	POLR2A	chr15:45878594-45880129	K562	blood:	n/a	n/a
47	ZNF143	chr15:45878610-45880092	K562	blood:	n/a	n/a
48	POLR2A	chr15:45878319-45880349	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:45878300-45879017	GM12891	blood:	n/a	n/a
50	POLR2A	chr15:45878411-45880240	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45877501..45879866-chr15:45923125..45926614,3	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	chr15:45877908..45881944-chr15:45926466..45928753,3	MCF-7	breast:
6	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
7	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
8	chr15:45740795..45743926-chr15:45878461..45880935,3	MCF-7	breast:
9	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
10	chr15:45878365..45879098-chr17:41438053..41439006,2	Hela-S3	cervix:
11	chr12:52444764..52445590-chr15:45878410..45879387,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000260170	TF binding region
BLOC1S6	TF binding region
ENSG00000104154	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000179362	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000259427	Chromatin interaction
ENSG00000123358	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16945097	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627219	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966763	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55755923	0.90[EUR][1000 genomes]
rs55806911	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913172	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55997350	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56081351	0.91[EUR][1000 genomes]
rs56179992	0.84[ASN][1000 genomes]
rs56190351	0.91[EUR][1000 genomes]
rs56259807	0.91[EUR][1000 genomes]
rs56304405	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56375332	0.91[EUR][1000 genomes]
rs56395216	0.91[EUR][1000 genomes]
rs57291883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593563	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60351453	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60378269	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60992352	0.84[ASN][1000 genomes]
rs61209164	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68044128	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164956	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7165827	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178395	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178879	1.00[ASN][1000 genomes]
rs7179265	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179903	1.00[ASN][1000 genomes]
rs7181436	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711301	0.84[ASN][1000 genomes]
rs72713103	0.84[ASN][1000 genomes]
rs72713104	0.84[ASN][1000 genomes]
rs72713105	0.84[ASN][1000 genomes]
rs72713106	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713107	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713168	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713169	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713172	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713177	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713178	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713180	0.80[EUR][1000 genomes]
rs72713182	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713185	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713191	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713197	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713199	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72713201	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715003	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715005	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72715008	0.90[EUR][1000 genomes]
rs72715010	0.91[EUR][1000 genomes]
rs72715014	0.91[EUR][1000 genomes]
rs72715019	0.91[EUR][1000 genomes]
rs72715020	0.91[EUR][1000 genomes]
rs72715077	0.91[EUR][1000 genomes]
rs8025407	0.84[ASN][1000 genomes]
rs8041902	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45876400-45878800	Weak transcription	Aorta	Aorta
2	chr15:45877400-45878800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr15:45877400-45881800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:45877800-45878800	Enhancers	Fetal Heart	heart
5	chr15:45878000-45878800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr15:45878000-45878800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:45878000-45878800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr15:45878000-45878800	Flanking Active TSS	Fetal Brain Male	brain
9	chr15:45878000-45879000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:45878000-45879000	Flanking Active TSS	Dnd41	blood
11	chr15:45878000-45879200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr15:45878000-45879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:45878000-45880800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:45878200-45878800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:45878200-45878800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45878200-45878800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:45878200-45878800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr15:45878200-45878800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:45878200-45878800	Flanking Active TSS	Fetal Lung	lung
20	chr15:45878200-45878800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:45878200-45878800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr15:45878200-45878800	Flanking Active TSS	GM12878-XiMat	blood
23	chr15:45878200-45879000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:45878200-45879000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr15:45878200-45879000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr15:45878200-45879000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:45878200-45879000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr15:45878200-45879000	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr15:45878200-45879000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:45878200-45879000	Enhancers	Spleen	Spleen
31	chr15:45878200-45879000	Flanking Active TSS	Hela-S3	cervix
32	chr15:45878200-45879000	Flanking Active TSS	NHEK	skin
33	chr15:45878200-45879200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:45878200-45879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:45878200-45879600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr15:45878200-45880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:45878200-45880800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr15:45878200-45880800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr15:45878200-45880800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:45878400-45878800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:45878400-45878800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:45878400-45878800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:45878400-45878800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:45878400-45878800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:45878400-45878800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:45878400-45878800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr15:45878400-45878800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr15:45878400-45878800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:45878400-45878800	Enhancers	Esophagus	oesophagus
50	chr15:45878400-45878800	Flanking Active TSS	Fetal Intestine Large	intestine

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