Variant report

Variant	rs8192419
Chromosome Location	chr15:72496419-72496420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72496189-72497260	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:72496267-72496761	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:72496285-72496813	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:72494671-72497977	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:72494454-72497941	K562	blood:	n/a	n/a
8	POLR2A	chr15:72496143-72496649	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:72494933-72497828	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr15:72496390-72496704	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr15:72488837-72501457	U87	brain:	n/a	n/a
12	POLR2A	chr15:72496285-72496979	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:72488735-72501628	U87	brain:	n/a	n/a
14	POLR2A	chr15:72490001-72501490	GM12891	blood:	n/a	n/a
15	MXI1	chr15:72495287-72496832	SK-N-SH	brain:	n/a	n/a
16	MYC	chr15:72495597-72496521	MCF10A-Er-Src	breast:	n/a	chr15:72496034-72496043
17	POLR2A	chr15:72494960-72497034	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:72496375-72497017	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr15:72496346-72496687	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:72496408-72496759	HepG2	liver:	n/a	n/a
21	GATA2	chr15:72495889-72496518	HUVEC	blood vessel:	n/a	chr15:72496277-72496287 chr15:72496277-72496284 chr15:72496277-72496284 chr15:72496277-72496284
22	POLR2A	chr15:72488802-72501457	U87	brain:	n/a	n/a
23	POLR2A	chr15:72496400-72497000	HCT-116	colon:	n/a	n/a
24	POLR2A	chr15:72489740-72498760	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:72496281-72497451	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr15:72488729-72501598	U87	brain:	n/a	n/a
27	POLR2A	chr15:72488985-72497862	A549	lung:	n/a	n/a
28	POLR2A	chr15:72489656-72501421	GM12878	blood:	n/a	n/a
29	MXI1	chr15:72495522-72496811	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72493260..72497095-chr15:72510880..72514109,3	K562	blood:
2	chr15:72494801..72498747-chr15:72521044..72524691,4	K562	blood:
3	chr15:72494875..72497791-chr15:72499662..72501925,3	MCF-7	breast:
4	chr15:72495998..72498558-chr15:72562827..72566042,3	MCF-7	breast:
5	chr15:72495667..72497285-chr15:72500382..72501960,2	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10220917	1.00[ASN][1000 genomes]
rs12324592	1.00[ASN][1000 genomes]
rs12441028	0.83[AMR][1000 genomes]
rs12442820	0.83[AMR][1000 genomes]
rs12903882	1.00[ASN][1000 genomes]
rs13379855	1.00[ASN][1000 genomes]
rs16956667	1.00[ASN][1000 genomes]
rs16956675	1.00[ASN][1000 genomes]
rs16956759	1.00[ASN][1000 genomes]
rs16956826	1.00[ASN][1000 genomes]
rs1816645	1.00[ASN][1000 genomes]
rs28393893	1.00[ASN][1000 genomes]
rs28408413	1.00[ASN][1000 genomes]
rs28422889	1.00[ASN][1000 genomes]
rs28471053	1.00[ASN][1000 genomes]
rs28488862	1.00[ASN][1000 genomes]
rs2912208	1.00[ASN][1000 genomes]
rs2912209	1.00[ASN][1000 genomes]
rs2912211	1.00[ASN][1000 genomes]
rs2912212	1.00[ASN][1000 genomes]
rs2912213	1.00[ASN][1000 genomes]
rs2959936	1.00[ASN][1000 genomes]
rs2959942	1.00[ASN][1000 genomes]
rs35293819	1.00[ASN][1000 genomes]
rs6495002	1.00[ASN][1000 genomes]
rs73440555	1.00[ASN][1000 genomes]
rs73440562	1.00[ASN][1000 genomes]
rs73440566	1.00[ASN][1000 genomes]
rs73440586	1.00[ASN][1000 genomes]
rs73442510	1.00[ASN][1000 genomes]
rs8039489	1.00[ASN][1000 genomes]
rs8192349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8192400	0.85[AMR][1000 genomes]
rs8192422	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9806212	1.00[ASN][1000 genomes]
rs9806258	1.00[ASN][1000 genomes]
rs9806374	1.00[ASN][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	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:72490400-72504000	Genic enhancers	A549	lung
4	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:72490600-72497000	Genic enhancers	Stomach Smooth Muscle	stomach
6	chr15:72490600-72498400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72490600-72499400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:72490600-72503400	Strong transcription	Primary B cells from cord blood	blood
9	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:72490600-72518000	Strong transcription	Dnd41	blood
17	chr15:72490800-72497400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
20	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
27	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:72491000-72497200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:72491000-72502800	Strong transcription	Pancreas	Pancrea
31	chr15:72491000-72504800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:72491000-72504800	Strong transcription	Aorta	Aorta
33	chr15:72491000-72511600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:72491000-72512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:72491000-72512200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
40	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:72491000-72514600	Strong transcription	K562	blood
45	chr15:72491200-72497000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr15:72491200-72512000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:72491200-72512000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:72491400-72498200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links