Variant report

Variant	rs8192379
Chromosome Location	chr15:72518670-72518671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72518468-72518785	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:72518413-72522208	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
4	MTA3	chr15:72518193-72518708	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:72517595-72520058	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:72517612-72524924	GM12892	blood:	n/a	n/a
7	POLR2A	chr15:72517567-72525077	U87	brain:	n/a	n/a
8	POLR2A	chr15:72518187-72518721	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr15:72517584-72518844	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:72517696-72524637	GM12878	blood:	n/a	n/a
11	MAZ	chr15:72518346-72520232	IMR90	lung:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
12	PAX5	chr15:72518432-72518811	GM12878	blood:	n/a	n/a
13	RUNX3	chr15:72518478-72519956	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:72518233-72524514	GM12878	blood:	n/a	n/a
15	CEBPB	chr15:72518665-72519824	A549	lung:	n/a	n/a
16	POLR2A	chr15:72518158-72518674	SK-N-SH	brain:	n/a	n/a
17	RUNX3	chr15:72518433-72519859	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:72517556-72525314	Hela-S3	cervix:	n/a	n/a
19	PAX5	chr15:72518507-72518846	GM12878	blood:	n/a	n/a
20	PAX5	chr15:72518472-72518841	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:72517464-72525609	U87	brain:	n/a	n/a
22	POLR2A	chr15:72518659-72519965	PFSK-1	brain:	n/a	n/a
23	CEBPB	chr15:72518657-72519887	IMR90	lung:	n/a	n/a
24	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
25	POLR2A	chr15:72517606-72520004	U87	brain:	n/a	n/a
26	POLR2A	chr15:72518223-72524499	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:72517634..72519273-chr15:72611202..72613447,2	MCF-7	breast:
2	chr15:72517678..72519194-chr15:72765569..72767844,2	MCF-7	breast:
3	chr15:72518397..72520643-chr15:72555836..72558368,2	K562	blood:
4	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
5	chr15:72460300..72462462-chr15:72516600..72519348,2	MCF-7	breast:
6	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
7	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
8	chr15:72516353..72519087-chr15:72549538..72551864,2	MCF-7	breast:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000166233	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000140488	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]
rs73436400	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]
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	chr15:72496600-72518800	Strong transcription	Fetal Stomach	stomach
2	chr15:72509400-72518800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:72511000-72519000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:72511000-72519000	Genic enhancers	HSMM	muscle
5	chr15:72511400-72521800	Weak transcription	Liver	Liver
6	chr15:72511600-72519000	Weak transcription	Fetal Brain Male	brain
7	chr15:72511600-72519000	Weak transcription	Fetal Kidney	kidney
8	chr15:72511600-72519000	Weak transcription	Ovary	ovary
9	chr15:72512600-72519000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:72512600-72519200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:72513400-72519000	Weak transcription	Fetal Lung	lung
12	chr15:72513600-72519000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:72514200-72519000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:72514400-72519600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr15:72514600-72519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:72515000-72519000	Weak transcription	Small Intestine	intestine
17	chr15:72515000-72519200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:72515200-72519000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:72515200-72519000	Weak transcription	Aorta	Aorta
20	chr15:72515200-72519000	Weak transcription	Stomach Mucosa	stomach
21	chr15:72515600-72519000	Weak transcription	Pancreas	Pancrea
22	chr15:72515800-72519000	Weak transcription	Right Atrium	heart
23	chr15:72516000-72519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:72516000-72519000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:72516000-72519000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:72516600-72519000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:72516600-72520000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:72516800-72518800	Genic enhancers	HMEC	breast
29	chr15:72516800-72519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:72516800-72519000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:72517000-72518800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:72517000-72518800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:72517000-72519000	Weak transcription	Gastric	stomach
34	chr15:72517000-72519000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:72517200-72518800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:72517200-72519000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:72517200-72519000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:72517200-72519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:72517200-72519000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:72517200-72519000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr15:72517200-72519000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:72517600-72519000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr15:72517600-72519000	Genic enhancers	K562	blood
44	chr15:72517600-72519400	Enhancers	Fetal Heart	heart
45	chr15:72517800-72518800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:72517800-72518800	Enhancers	Primary T cells from cord blood	blood
47	chr15:72517800-72518800	Genic enhancers	HUVEC	blood vessel
48	chr15:72517800-72519000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr15:72517800-72519000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:72517800-72519000	Enhancers	Brain Anterior Caudate	brain

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