Variant report

Variant	rs73436400
Chromosome Location	chr15:72514211-72514212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72514181-72517214	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:72510600-72517250	U87	brain:	n/a	n/a
3	POLR2A	chr15:72513970-72517229	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:72505274-72517371	U87	brain:	n/a	n/a
5	POLR2A	chr15:72511065-72517077	GM12878	blood:	n/a	n/a
6	STAT3	chr15:72514177-72515460	MCF10A-Er-Src	breast:	n/a	chr15:72514867-72514878 chr15:72514869-72514877
7	POLR2A	chr15:72514077-72515346	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr15:72507467-72517250	U87	brain:	n/a	n/a
9	POLR2A	chr15:72513968-72517235	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:72510812-72517224	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:72514117-72517134	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:72514124-72514237	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:72513972-72515935	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
15	POLR2A	chr15:72514077-72517145	A549	lung:	n/a	n/a
16	POLR2A	chr15:72514196-72517101	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72512307..72515184-chr15:72976836..72978920,2	MCF-7	breast:
2	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:
3	chr15:72510164..72512680-chr15:72512983..72515038,2	K562	blood:
4	chr15:72498391..72500734-chr15:72513499..72516225,2	K562	blood:
5	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:
6	chr15:72513004..72514801-chr15:72516886..72518388,2	K562	blood:
7	chr15:72511264..72514966-chr15:72550675..72553290,3	MCF-7	breast:
8	chr15:72505538..72509992-chr15:72512503..72516214,6	K562	blood:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000175202	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10083583	0.81[AFR][1000 genomes]
rs10518987	0.81[AFR][1000 genomes]
rs12324744	0.96[AFR][1000 genomes]
rs12907087	0.92[AFR][1000 genomes]
rs12907377	0.92[AFR][1000 genomes]
rs12909590	0.82[AFR][1000 genomes]
rs12911285	0.92[AFR][1000 genomes]
rs12914269	0.92[AFR][1000 genomes]
rs1426169	0.92[AFR][1000 genomes]
rs2415133	0.85[AFR][1000 genomes]
rs28414926	0.87[AFR][1000 genomes]
rs34346715	0.92[AFR][1000 genomes]
rs34382909	0.96[AFR][1000 genomes]
rs35104697	0.92[AFR][1000 genomes]
rs35694406	0.90[AFR][1000 genomes]
rs36110969	0.92[AFR][1000 genomes]
rs3743227	0.96[AFR][1000 genomes]
rs3743228	0.96[AFR][1000 genomes]
rs3743229	0.96[AFR][1000 genomes]
rs57420281	0.96[AFR][1000 genomes]
rs57595193	0.89[AFR][1000 genomes]
rs57692836	0.96[AFR][1000 genomes]
rs58352854	0.96[AFR][1000 genomes]
rs60350471	1.00[AFR][1000 genomes]
rs60600349	0.98[AFR][1000 genomes]
rs61109283	0.85[AFR][1000 genomes]
rs6494994	1.00[AFR][1000 genomes]
rs67195650	0.96[AFR][1000 genomes]
rs7174264	0.96[AFR][1000 genomes]
rs73436365	0.89[AFR][1000 genomes]
rs73436366	0.89[AFR][1000 genomes]
rs73436377	0.89[AFR][1000 genomes]
rs73436397	1.00[AFR][1000 genomes]
rs73438403	0.98[AFR][1000 genomes]
rs73438405	1.00[AFR][1000 genomes]
rs73438414	1.00[AFR][1000 genomes]
rs73438446	0.89[AFR][1000 genomes]
rs73438458	0.91[AFR][1000 genomes]
rs73438466	0.81[AFR][1000 genomes]
rs8028169	1.00[AFR][1000 genomes]
rs8033167	1.00[AFR][1000 genomes]
rs8192354	1.00[AFR][1000 genomes]
rs8192360	1.00[AFR][1000 genomes]
rs8192365	1.00[AFR][1000 genomes]
rs8192367	0.96[AFR][1000 genomes]
rs8192379	1.00[AFR][1000 genomes]
rs8192393	1.00[AFR][1000 genomes]
rs8192408	0.98[AFR][1000 genomes]
rs8192412	1.00[AFR][1000 genomes]
rs8192413	1.00[AFR][1000 genomes]
rs8192418	0.93[AFR][1000 genomes]
rs890312	0.92[AFR][1000 genomes]
rs9806184	0.96[AFR][1000 genomes]
rs9806204	0.96[AFR][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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:72490600-72518000	Strong transcription	Dnd41	blood
3	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:72491000-72514600	Strong transcription	K562	blood
6	chr15:72496600-72518800	Strong transcription	Fetal Stomach	stomach
7	chr15:72497000-72514600	Strong transcription	HUVEC	blood vessel
8	chr15:72508000-72514600	Genic enhancers	A549	lung
9	chr15:72508600-72515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:72509200-72517200	Genic enhancers	HepG2	liver
11	chr15:72509400-72518800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:72510200-72514400	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:72511000-72514400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr15:72511000-72514600	Genic enhancers	Hela-S3	cervix
15	chr15:72511000-72514800	Genic enhancers	Fetal Intestine Small	intestine
16	chr15:72511000-72517800	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr15:72511000-72519000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:72511000-72519000	Genic enhancers	HSMM	muscle
19	chr15:72511200-72514400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:72511200-72517200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr15:72511400-72514600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:72511400-72521800	Weak transcription	Liver	Liver
23	chr15:72511600-72514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:72511600-72514600	Weak transcription	Aorta	Aorta
25	chr15:72511600-72517800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:72511600-72518000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:72511600-72519000	Weak transcription	Fetal Brain Male	brain
28	chr15:72511600-72519000	Weak transcription	Fetal Kidney	kidney
29	chr15:72511600-72519000	Weak transcription	Ovary	ovary
30	chr15:72511800-72514600	Weak transcription	Adipose Nuclei	Adipose
31	chr15:72511800-72514600	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:72511800-72514600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:72511800-72514600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:72511800-72515800	Enhancers	Fetal Heart	heart
35	chr15:72511800-72516200	Enhancers	Brain Hippocampus Middle	brain
36	chr15:72511800-72517000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr15:72511800-72517200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:72511800-72517800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:72511800-72518200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:72512000-72514600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:72512000-72514600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:72512000-72516000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:72512000-72517200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:72512200-72514400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr15:72512200-72515200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:72512200-72515200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:72512200-72517200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:72512400-72515800	Genic enhancers	Duodenum Mucosa	Duodenum
49	chr15:72512400-72518000	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr15:72512600-72516400	Weak transcription	Rectal Mucosa Donor 29	rectum

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