Variant report

Variant	rs8192427
Chromosome Location	chr15:72493063-72493064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72489503-72494887	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:72489689-72496123	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:72492769-72493877	HCT-116	colon:	n/a	n/a
4	POLR2A	chr15:72492587-72493515	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:72492684-72494220	GM18526	blood:	n/a	n/a
6	POLR2A	chr15:72492604-72494364	GM12892	blood:	n/a	n/a
7	POLR2A	chr15:72492998-72493505	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:72492712-72493489	A549	lung:	n/a	n/a
9	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72492707-72493505	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:72492948-72493546	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
14	JUND	chr15:72492731-72493576	A549	lung:	n/a	n/a
15	POLR2A	chr15:72493051-72494422	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:72493009-72493986	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:72488837-72501457	U87	brain:	n/a	n/a
19	POLR2A	chr15:72492493-72493475	GM12892	blood:	n/a	n/a
20	POLR2A	chr15:72492912-72493233	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:72488735-72501628	U87	brain:	n/a	n/a
22	POLR2A	chr15:72490001-72501490	GM12891	blood:	n/a	n/a
23	POLR2A	chr15:72492707-72493495	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:72492739-72493476	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:72491982-72494459	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:72492799-72494350	GM19193	blood:	n/a	n/a
27	POLR2A	chr15:72492014-72494402	HL-60	blood:	n/a	n/a
28	POLR2A	chr15:72490032-72493676	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:72492923-72494336	GM18505	blood:	n/a	n/a
30	POLR2A	chr15:72492730-72494298	GM12892	blood:	n/a	n/a
31	POLR2A	chr15:72489652-72494351	K562	blood:	n/a	n/a
32	POLR2A	chr15:72492786-72493103	A549	lung:	n/a	n/a
33	POLR2A	chr15:72488802-72501457	U87	brain:	n/a	n/a
34	POLR2A	chr15:72492729-72493481	A549	lung:	n/a	n/a
35	POLR2A	chr15:72492593-72493851	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr15:72489740-72498760	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:72490029-72496219	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr15:72488729-72501598	U87	brain:	n/a	n/a
39	POLR2A	chr15:72492949-72494286	K562	blood:	n/a	n/a
40	POLR2A	chr15:72490000-72494038	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr15:72489748-72496197	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:72488985-72497862	A549	lung:	n/a	n/a
43	POLR2A	chr15:72492590-72493759	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:72490148-72494246	K562	blood:	n/a	n/a
45	POLR2A	chr15:72492931-72494368	K562	blood:	n/a	n/a
46	POLR2A	chr15:72489656-72501421	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:72490226-72494599	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:72492595-72493279	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:72492521-72494439	Hela-S3	cervix:	n/a	n/a
50	NFATC1	chr15:72492808-72493084	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72484916..72487444-chr15:72490191..72493716,4	MCF-7	breast:
2	chr15:72409727..72411428-chr15:72491311..72493114,2	K562	blood:
3	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
4	chr15:72490651..72493389-chr15:72515368..72517029,2	K562	blood:
5	chr15:72492414..72494296-chr15:72563367..72565234,2	MCF-7	breast:
6	chr15:72487347..72489902-chr15:72491021..72493729,2	K562	blood:

No data

Variant related genes	Relation type
GRAMD2	TF binding region
ENSG00000175318	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10152588	1.00[EUR][1000 genomes]
rs12101457	1.00[AMR][1000 genomes]
rs12101672	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12102191	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12102206	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956667	1.00[EUR][1000 genomes]
rs2009365	1.00[EUR][1000 genomes]
rs2162236	1.00[EUR][1000 genomes]
rs28368570	1.00[AMR][1000 genomes]
rs28375199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435418	1.00[EUR][1000 genomes]
rs28446198	1.00[AMR][1000 genomes]
rs28475439	1.00[AMR][1000 genomes]
rs28478343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493313	1.00[AMR][1000 genomes]
rs28526815	1.00[AMR][1000 genomes]
rs28562796	1.00[EUR][1000 genomes]
rs28564635	1.00[AMR][1000 genomes]
rs28613926	0.87[AMR][1000 genomes]
rs28626831	1.00[EUR][1000 genomes]
rs28636457	1.00[AMR][1000 genomes]
rs28663089	1.00[EUR][1000 genomes]
rs28748021	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758400	1.00[AMR][1000 genomes]
rs28897422	1.00[AMR][1000 genomes]
rs59262103	1.00[EUR][1000 genomes]
rs60790003	1.00[EUR][1000 genomes]
rs61100297	1.00[EUR][1000 genomes]
rs6494999	1.00[EUR][1000 genomes]
rs7175677	1.00[EUR][1000 genomes]
rs7182307	1.00[EUR][1000 genomes]
rs73440566	1.00[EUR][1000 genomes]
rs8039839	1.00[EUR][1000 genomes]
rs8192417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	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	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:72490400-72493200	Strong transcription	HSMMtube	muscle
5	chr15:72490400-72495200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:72490400-72495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:72490400-72504000	Genic enhancers	A549	lung
8	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:72490600-72493400	Genic enhancers	Fetal Intestine Small	intestine
10	chr15:72490600-72493600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:72490600-72495000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:72490600-72495400	Strong transcription	NHLF	lung
13	chr15:72490600-72495600	Strong transcription	HUVEC	blood vessel
14	chr15:72490600-72497000	Genic enhancers	Stomach Smooth Muscle	stomach
15	chr15:72490600-72498400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:72490600-72499400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:72490600-72503400	Strong transcription	Primary B cells from cord blood	blood
18	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:72490600-72518000	Strong transcription	Dnd41	blood
26	chr15:72490800-72493200	Strong transcription	NHDF-Ad	bronchial
27	chr15:72490800-72494800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:72490800-72495600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:72490800-72495600	Strong transcription	Rectal Smooth Muscle	rectum
30	chr15:72490800-72495600	Strong transcription	Osteobl	bone
31	chr15:72490800-72495800	Strong transcription	Small Intestine	intestine
32	chr15:72490800-72497400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
35	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
42	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:72491000-72493200	Strong transcription	Adipose Nuclei	Adipose
45	chr15:72491000-72493200	Strong transcription	Brain Angular Gyrus	brain
46	chr15:72491000-72493400	Strong transcription	Thymus	Thymus
47	chr15:72491000-72493600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:72491000-72493600	Genic enhancers	Fetal Intestine Large	intestine
49	chr15:72491000-72493600	Genic enhancers	HepG2	liver
50	chr15:72491000-72494200	Genic enhancers	Duodenum Mucosa	Duodenum

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