Variant report

Variant	rs2912232
Chromosome Location	chr15:72565193-72565194
allele	C/G
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	CTCF	chr15:72565160-72565310	HPF	lung:	n/a	n/a
2	FOS	chr15:72564975-72565232	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr15:72564649-72565499	NB4	blood:	n/a	n/a
4	CTCF	chr15:72565095-72565401	Gliobla	brain:	n/a	n/a
5	CTBP2	chr15:72564528-72565545	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:72565180-72565330	GM12875	blood:	n/a	n/a
7	HEY1	chr15:72564685-72565468	K562	blood:	n/a	chr15:72565028-72565037
8	EGR1	chr15:72564590-72565372	MCF-7	breast:	n/a	chr15:72564658-72564668 chr15:72564899-72564913 chr15:72565154-72565163
9	NR2F2	chr15:72564904-72565336	K562	blood:	n/a	n/a
10	CTCF	chr15:72565160-72565310	HFF-Myc	foreskin:	n/a	n/a
11	NFYA	chr15:72564852-72565407	Hela-S3	cervix:	n/a	n/a
12	FOS	chr15:72565026-72565226	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr15:72564380-72565408	MCF-7	breast:	n/a	n/a
14	EGR1	chr15:72564941-72565419	H1-hESC	embryonic stem cell:	n/a	chr15:72565154-72565163
15	POLR2A	chr15:72564400-72565627	K562	blood:	n/a	n/a
16	CTCF	chr15:72565180-72565330	HVMF	connective:	n/a	n/a
17	CTCF	chr15:72565160-72565310	HVMF	connective:	n/a	n/a
18	STAT1	chr15:72564976-72565389	GM12878	blood:	n/a	chr15:72565129-72565141
19	CBX3	chr15:72564939-72565384	K562	blood:	n/a	n/a
20	MAX	chr15:72564566-72565412	ECC-1	luminal epithelium:	n/a	chr15:72565030-72565046 chr15:72565026-72565039 chr15:72565028-72565037 chr15:72565028-72565038 chr15:72565027-72565038 chr15:72565029-72565036 chr15:72565027-72565038 chr15:72565028-72565037
21	UBTF	chr15:72564465-72565463	K562	blood:	n/a	n/a
22	BCL3	chr15:72564500-72565761	A549	lung:	n/a	chr15:72564782-72564795 chr15:72564658-72564671 chr15:72564659-72564672
23	CTCF	chr15:72565160-72565310	GM12871	blood:	n/a	n/a
24	CTCF	chr15:72565160-72565310	GM06990	blood:	n/a	n/a
25	MAX	chr15:72564427-72565549	HCT-116	colon:	n/a	chr15:72565030-72565046 chr15:72565026-72565039 chr15:72565028-72565037 chr15:72565028-72565038 chr15:72565027-72565038 chr15:72565029-72565036 chr15:72565027-72565038 chr15:72565028-72565037
26	GTF2F1	chr15:72564974-72565400	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP2	chr15:72565085-72565381	K562	blood:	n/a	chr15:72565184-72565199
28	POLR2A	chr15:72564125-72565544	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:72564142-72565403	Hela-S3	cervix:	n/a	n/a
30	NR2F2	chr15:72564849-72565509	K562	blood:	n/a	n/a
31	POLR2A	chr15:72564568-72565434	GM12891	blood:	n/a	n/a
32	HDAC2	chr15:72564571-72565365	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr15:72565077-72565390	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:72564595-72565378	HUVEC	blood vessel:	n/a	n/a
35	THAP1	chr15:72564739-72565237	K562	blood:	n/a	n/a
36	USF1	chr15:72564702-72565351	A549	lung:	n/a	chr15:72564787-72564803 chr15:72565064-72565080
37	E2F6	chr15:72564725-72565367	K562	blood:	n/a	chr15:72565154-72565163 chr15:72565105-72565114
38	IRF1	chr15:72564735-72565416	K562	blood:	n/a	n/a
39	ZNF143	chr15:72564770-72565533	GM12878	blood:	n/a	n/a
40	CREB1	chr15:72564772-72565371	A549	lung:	n/a	n/a
41	RFX5	chr15:72564831-72565470	GM12878	blood:	n/a	n/a
42	BHLHE40	chr15:72564711-72565431	GM12878	blood:	n/a	chr15:72564787-72564803 chr15:72565064-72565080
43	CEBPB	chr15:72565001-72565502	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr15:72564062-72565733	H1-neurons	neurons:	n/a	chr15:72565206-72565219 chr15:72564789-72564802 chr15:72565141-72565154
45	ZBTB33	chr15:72564974-72565339	A549	lung:	n/a	n/a
46	POLR2A	chr15:72564369-72565528	GM19193	blood:	n/a	n/a
47	MAFK	chr15:72565005-72565274	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr15:72565112-72565392	Medullo	brain:	n/a	n/a
49	CTCF	chr15:72565160-72565310	AG09309	skin:	n/a	n/a
50	RCOR1	chr15:72564653-72565425	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:
2	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
3	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
4	chr15:72409322..72412006-chr15:72563414..72566011,3	MCF-7	breast:
5	chr15:72548498..72554612-chr15:72558312..72566000,13	MCF-7	breast:
6	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
7	chr15:72459821..72461687-chr15:72564383..72566445,2	MCF-7	breast:
8	chr15:72557492..72560161-chr15:72562709..72565959,3	K562	blood:
9	chr15:72555118..72559591-chr15:72562362..72567008,6	MCF-7	breast:
10	chr15:72498640..72500862-chr15:72563465..72565516,2	MCF-7	breast:
11	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
12	chr11:62572553..62573077-chr15:72564582..72565306,2	Hela-S3	cervix:
13	chr15:72564694..72565205-chr5:137878737..137879359,2	Hela-S3	cervix:
14	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
15	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
16	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
17	chr15:72563468..72565339-chr15:73075771..73077281,2	MCF-7	breast:
18	chr15:72495998..72498558-chr15:72562827..72566042,3	MCF-7	breast:
19	chr15:72537383..72539855-chr15:72564362..72566037,2	MCF-7	breast:
20	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:
21	chr1:28973807..28976760-chr15:72563147..72565838,2	MCF-7	breast:
22	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:
23	chr15:72550392..72553636-chr15:72562522..72566048,4	MCF-7	breast:

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000162231	Chromatin interaction
ENSG00000261460	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000120705	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000175318	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072348	1.00[EUR][1000 genomes]
rs11072352	1.00[EUR][1000 genomes]
rs12593333	1.00[EUR][1000 genomes]
rs12903688	1.00[EUR][1000 genomes]
rs1457030	1.00[EUR][1000 genomes]
rs1598714	1.00[EUR][1000 genomes]
rs1800431	1.00[EUR][1000 genomes]
rs2415131	1.00[EUR][1000 genomes]
rs2856926	1.00[EUR][1000 genomes]
rs2912208	1.00[EUR][1000 genomes]
rs2912209	1.00[EUR][1000 genomes]
rs2912211	1.00[EUR][1000 genomes]
rs2912212	1.00[EUR][1000 genomes]
rs2912213	1.00[EUR][1000 genomes]
rs2912218	1.00[EUR][1000 genomes]
rs2925647	1.00[EUR][1000 genomes]
rs2925651	1.00[EUR][1000 genomes]
rs2929516	1.00[EUR][1000 genomes]
rs2929520	1.00[EUR][1000 genomes]
rs2957367	1.00[EUR][1000 genomes]
rs2957370	1.00[EUR][1000 genomes]
rs2957371	1.00[EUR][1000 genomes]
rs2957722	1.00[EUR][1000 genomes]
rs2959901	1.00[EUR][1000 genomes]
rs2959902	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2959905	1.00[EUR][1000 genomes]
rs2959907	1.00[EUR][1000 genomes]
rs2959920	1.00[EUR][1000 genomes]
rs2959928	1.00[EUR][1000 genomes]
rs2959934	1.00[EUR][1000 genomes]
rs2959936	1.00[EUR][1000 genomes]
rs2959937	1.00[EUR][1000 genomes]
rs2959942	1.00[EUR][1000 genomes]
rs35293819	1.00[EUR][1000 genomes]
rs35514603	1.00[EUR][1000 genomes]
rs4238451	1.00[EUR][1000 genomes]
rs4265763	1.00[EUR][1000 genomes]
rs4461029	1.00[EUR][1000 genomes]
rs4776587	1.00[EUR][1000 genomes]
rs4776588	1.00[EUR][1000 genomes]
rs4777487	1.00[EUR][1000 genomes]
rs4777493	1.00[EUR][1000 genomes]
rs4777502	1.00[EUR][1000 genomes]
rs6494988	1.00[EUR][1000 genomes]
rs6494989	1.00[EUR][1000 genomes]
rs6494995	1.00[EUR][1000 genomes]
rs7170173	1.00[EUR][1000 genomes]
rs7171097	1.00[EUR][1000 genomes]
rs7173348	1.00[EUR][1000 genomes]
rs7173532	1.00[EUR][1000 genomes]
rs7177512	1.00[EUR][1000 genomes]
rs7179691	1.00[EUR][1000 genomes]
rs7180934	1.00[EUR][1000 genomes]
rs8031658	1.00[EUR][1000 genomes]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	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	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
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72563600-72565600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr15:72563600-72565600	Active TSS	Psoas Muscle	Psoas
3	chr15:72563800-72565400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:72563800-72565400	Active TSS	NHDF-Ad	bronchial
5	chr15:72563800-72565600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:72564000-72565200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:72564000-72565200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:72564000-72565200	Active TSS	Fetal Muscle Trunk	muscle
9	chr15:72564000-72565400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr15:72564000-72565400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:72564000-72565400	Active TSS	Colon Smooth Muscle	Colon
12	chr15:72564000-72565400	Active TSS	Fetal Intestine Small	intestine
13	chr15:72564000-72565400	Active TSS	GM12878-XiMat	blood
14	chr15:72564000-72565400	Active TSS	HSMM	muscle
15	chr15:72564000-72565400	Active TSS	NHLF	lung
16	chr15:72564000-72565600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr15:72564000-72565600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:72564000-72565600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr15:72564000-72565800	Active TSS	Brain Germinal Matrix	brain
20	chr15:72564200-72565200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:72564200-72565200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:72564200-72565200	Active TSS	Esophagus	oesophagus
23	chr15:72564200-72565200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr15:72564200-72565200	Active TSS	Thymus	Thymus
25	chr15:72564200-72565400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr15:72564200-72565400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:72564200-72565400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr15:72564200-72565400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:72564200-72565400	Active TSS	Liver	Liver
30	chr15:72564200-72565400	Active TSS	Brain Hippocampus Middle	brain
31	chr15:72564200-72565400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:72564200-72565400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr15:72564200-72565400	Active TSS	Fetal Intestine Large	intestine
34	chr15:72564200-72565400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:72564200-72565400	Active TSS	A549	lung
36	chr15:72564200-72565400	Active TSS	NH-A	brain
37	chr15:72564200-72565600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:72564200-72565600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr15:72564200-72565600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:72564200-72565600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:72564200-72565600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:72564200-72565600	Active TSS	Aorta	Aorta
43	chr15:72564200-72565600	Active TSS	Fetal Kidney	kidney
44	chr15:72564200-72565600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:72564200-72565600	Active TSS	Fetal Stomach	stomach
46	chr15:72564200-72565600	Active TSS	Left Ventricle	heart
47	chr15:72564200-72565600	Active TSS	Lung	lung
48	chr15:72564200-72565600	Active TSS	Ovary	ovary
49	chr15:72564200-72565800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:72564200-72565800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links