Variant report

Variant	rs8192390
Chromosome Location	chr15:72512591-72512592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72512217-72512890	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:72510600-72517250	U87	brain:	n/a	n/a
3	POLR2A	chr15:72505274-72517371	U87	brain:	n/a	n/a
4	POLR2A	chr15:72512143-72512746	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:72512229-72513786	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:72511318-72513881	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr15:72511632-72513337	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:72512266-72512650	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:72512461-72513413	HL-60	blood:	n/a	n/a
10	POLR2A	chr15:72512206-72513786	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:72511065-72517077	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:72511070-72513586	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:72511961-72512896	HCT-116	colon:	n/a	n/a
14	POLR2A	chr15:72507467-72517250	U87	brain:	n/a	n/a
15	POLR2A	chr15:72511912-72512932	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr15:72510812-72517224	GM12891	blood:	n/a	n/a
17	POLR2A	chr15:72511116-72513886	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:72512373-72513836	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:72511802-72512857	GM12891	blood:	n/a	n/a
20	POLR2A	chr15:72512201-72512966	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr15:72512179-72512751	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:72512484-72512740	MCF-7	breast:	n/a	n/a
23	POLR2A	chr15:72510838-72513726	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:72512038-72513622	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:72511207-72513548	K562	blood:	n/a	n/a
26	POLR2A	chr15:72512274-72513864	SK-N-MC	brain:	n/a	n/a
27	WRNIP1	chr15:72511779-72512905	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:72512580-72513407	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr15:72511014-72513789	A549	lung:	n/a	n/a
30	POLR2A	chr15:72512164-72512761	GM12891	blood:	n/a	n/a
31	POLR2A	chr15:72512444-72512732	GM12891	blood:	n/a	n/a
32	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
33	POLR2A	chr15:72511056-72513856	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:72511368-72513668	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:72510470-72513479	HepG2	liver:	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	chr15:72493260..72497095-chr15:72510880..72514109,3	K562	blood:
3	chr15:72502909..72504752-chr15:72511808..72513368,2	K562	blood:
4	chr15:72508936..72512734-chr15:72522012..72524775,3	K562	blood:
5	chr15:72510164..72512680-chr15:72512983..72515038,2	K562	blood:
6	chr15:72509056..72514932-chr15:72519551..72525663,8	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
ENSG00000140463	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000175202	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10220917	1.00[EUR][1000 genomes]
rs16956759	1.00[EUR][1000 genomes]
rs1800430	1.00[EUR][1000 genomes]
rs28471053	1.00[EUR][1000 genomes]
rs59427837	1.00[EUR][1000 genomes]
rs73440586	1.00[EUR][1000 genomes]
rs73440594	1.00[EUR][1000 genomes]
rs73440601	1.00[EUR][1000 genomes]
rs73442510	1.00[EUR][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	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:72490600-72518000	Strong transcription	Dnd41	blood
7	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
10	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
16	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:72491000-72514600	Strong transcription	K562	blood
21	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:72491600-72513600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:72491800-72513200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:72492200-72514000	Strong transcription	Placenta	Placenta
26	chr15:72492200-72514200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:72492400-72513800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:72494400-72513400	Strong transcription	Thymus	Thymus
29	chr15:72496000-72513800	Strong transcription	Fetal Thymus	thymus
30	chr15:72496600-72513600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:72496600-72513600	Strong transcription	Spleen	Spleen
32	chr15:72496600-72518800	Strong transcription	Fetal Stomach	stomach
33	chr15:72496800-72514000	Strong transcription	NHLF	lung
34	chr15:72497000-72513800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr15:72497000-72514200	Strong transcription	NHDF-Ad	bronchial
36	chr15:72497000-72514600	Strong transcription	HUVEC	blood vessel
37	chr15:72497200-72513000	Strong transcription	Osteobl	bone
38	chr15:72499000-72513200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:72499200-72513200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:72499800-72512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:72501400-72512600	Strong transcription	HMEC	breast
42	chr15:72502200-72513200	Strong transcription	NHEK	skin
43	chr15:72504200-72513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:72504600-72512800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:72506000-72512800	Strong transcription	Colonic Mucosa	Colon
46	chr15:72506800-72513800	Strong transcription	Lung	lung
47	chr15:72507800-72513000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:72508000-72514600	Genic enhancers	A549	lung
49	chr15:72508600-72515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:72509200-72517200	Genic enhancers	HepG2	liver

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