Variant report

Variant	rs74011388
Chromosome Location	chr15:45493122-45493123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45492353-45493232	SK-N-MC	brain:	n/a	n/a
2	USF2	chr15:45492392-45493948	GM12878	blood:	n/a	n/a
3	CREB1	chr15:45492204-45493720	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:45492131-45494103	GM12878	blood:	n/a	n/a
5	RCOR1	chr15:45492127-45493632	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:45492205-45493522	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:45492337-45493535	GM12878	blood:	n/a	n/a
8	RPC155	chr15:45492117-45493821	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr15:45492347-45493611	GM12878	blood:	n/a	chr15:45492439-45492448 chr15:45492436-45492449 chr15:45492438-45492449
10	CHD2	chr15:45492283-45494186	GM12878	blood:	n/a	n/a
11	REST	chr15:45492104-45493445	H1-neurons	neurons:	n/a	chr15:45493206-45493219 chr15:45493203-45493210
12	BDP1	chr15:45492384-45493767	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr15:45493060-45493210	SK-N-SH_RA	brain:	n/a	n/a
14	TEAD4	chr15:45493058-45493619	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr15:45492245-45493624	K562	blood:	n/a	n/a
16	POLR2A	chr15:45492406-45493469	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr15:45493115-45493516	A549	lung:	n/a	n/a
18	POLR2A	chr15:45492494-45493489	HL-60	blood:	n/a	n/a
19	POLR2A	chr15:45492385-45493608	GM12892	blood:	n/a	n/a
20	UBTF	chr15:45492287-45493658	K562	blood:	n/a	n/a
21	RELA	chr15:45492248-45494117	GM19099	blood:	n/a	chr15:45493570-45493579 chr15:45493570-45493579
22	TAF1	chr15:45492143-45493488	H1-neurons	neurons:	n/a	n/a
23	YY1	chr15:45492271-45493546	SK-N-SH_RA	brain:	n/a	chr15:45493284-45493303 chr15:45492739-45492748 chr15:45493287-45493295
24	POLR2A	chr15:45492419-45493505	GM12878	blood:	n/a	n/a
25	ZMIZ1	chr15:45492285-45493518	K562	blood:	n/a	n/a
26	ATF3	chr15:45492178-45493774	A549	lung:	n/a	chr15:45492739-45492748
27	MBD4	chr15:45492296-45493717	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:45492289-45493531	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:45492140-45493498	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr15:45492501-45493477	GM12892	blood:	n/a	n/a
31	YY1	chr15:45492328-45493606	H1-hESC	embryonic stem cell:	n/a	chr15:45493284-45493303 chr15:45492739-45492748 chr15:45493287-45493295
32	ARID3A	chr15:45492302-45493782	HepG2	liver:	n/a	n/a
33	JUND	chr15:45492379-45493915	K562	blood:	n/a	n/a
34	ATF2	chr15:45492093-45493483	GM12878	blood:	n/a	n/a
35	ATF3	chr15:45492164-45493894	A549	lung:	n/a	chr15:45492739-45492748
36	POLR2A	chr15:45492154-45493218	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:45492178-45493624	GM12891	blood:	n/a	n/a
38	POLR2A	chr15:45492535-45493424	GM19193	blood:	n/a	n/a
39	YY1	chr15:45492332-45493502	HepG2	liver:	n/a	chr15:45493284-45493303 chr15:45492739-45492748 chr15:45493287-45493295
40	POU2F2	chr15:45492310-45493619	GM12891	blood:	n/a	n/a
41	POLR2A	chr15:45492185-45493592	Hela-S3	cervix:	n/a	n/a
42	TBP	chr15:45492213-45493634	K562	blood:	n/a	n/a
43	CREB1	chr15:45493103-45493539	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr15:45492276-45493622	Hela-S3	cervix:	n/a	n/a
45	USF1	chr15:45493088-45493649	A549	lung:	n/a	n/a
46	MAZ	chr15:45492234-45493731	K562	blood:	n/a	n/a
47	ETS1	chr15:45493073-45493636	A549	lung:	n/a	n/a
48	ATF3	chr15:45492155-45493807	K562	blood:	n/a	chr15:45492739-45492748
49	NR2F2	chr15:45492352-45493668	K562	blood:	n/a	n/a
50	TAF1	chr15:45493075-45493467	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45493106-45493156	HAEpiC	amniotic membrane:	n/a
2	chr15:45493106-45493156	A549	lung:	n/a
3	chr15:45493106-45493156	SK-N-SH	brain:	n/a
4	chr15:45493106-45493156	GM12878	blood:	n/a
5	chr15:45493106-45493156	H1-hESC	embryonic stem cell:	embryo
6	chr15:45493106-45493156	U87	brain:	n/a
7	chr15:45493106-45493156	GM12892	blood:	n/a
8	chr15:45493106-45493156	AG10803	skin:	n/a
9	chr15:45493106-45493156	Hepatocyte	liver:	n/a
10	chr15:45493106-45493156	HL-60	blood:	n/a
11	chr15:45493106-45493156	ECC-1	luminal epithelium:	n/a
12	chr15:45493106-45493156	HRE	kidney:	n/a
13	chr15:45493106-45493156	SKMC	muscle:	n/a
14	chr15:45493106-45493156	GM12891	blood:	n/a
15	chr15:45493106-45493156	K562	blood:	n/a
16	chr15:45493106-45493156	NB4	blood:	n/a
17	chr15:45493106-45493156	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:45493106-45493156	HCPEpiC	choroid plexus:	n/a
19	chr15:45493106-45493156	SAEC	small airway:	n/a
20	chr15:45493106-45493156	HRPEpiC	eye:	n/a
21	chr15:45493106-45493156	BE2_C	brain:	n/a
22	chr15:45493106-45493156	IMR90	lung:	fetal
23	chr15:45493106-45493156	GM19239	blood:	n/a
24	chr15:45493106-45493156	AG09319	gingival:	n/a
25	chr15:45493106-45493156	HCF	heart:	n/a
26	chr15:45493106-45493156	BJ	skin:	n/a
27	chr15:45493106-45493156	ProgFib	skin:	n/a
28	chr15:45493106-45493156	NHBE	bronchial:	n/a
29	chr15:45493106-45493156	MCF-7	breast:	n/a
30	chr15:45493106-45493156	HUVEC	blood vessel:	n/a
31	chr15:45493106-45493156	RPTEC	kidney:	n/a
32	chr15:45493106-45493156	GM06990	blood:	n/a
33	chr15:45493106-45493156	HNPCEpiC	eye:	n/a
34	chr15:45493106-45493156	LNCaP	prostate:	n/a
35	chr15:45493106-45493156	T-47D	breast:	n/a
36	chr15:45493106-45493156	HCT-116	colon:	n/a
37	chr15:45493106-45493156	AG04450	lung:	fetal
38	chr15:45493106-45493156	HEEpiC	esophagus:	n/a
39	chr15:45493106-45493156	SK-N-SH_RA	brain:	n/a
40	chr15:45493106-45493156	Hela-S3	cervix:	n/a
41	chr15:45493106-45493156	NT2-D1	testis:	n/a
42	chr15:45493106-45493156	HIPEpiC	eye:	n/a
43	chr15:45493106-45493156	PFSK-1	brain:	n/a
44	chr15:45493106-45493156	NHDF-neo	bronchial:	n/a
45	chr15:45493106-45493156	PANC-1	pancreas:	n/a
46	chr15:45493106-45493156	ovcar-3	ovarian:	n/a
47	chr15:45493106-45493156	AG09309	skin:	n/a
48	chr15:45493106-45493156	AG04449	skin:	fetal
49	chr15:45493106-45493156	PrEC	prostate:	n/a
50	chr15:45493106-45493156	HEK293	kidney:	embryo

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
2	chr1:93644741..93645741-chr15:45492796..45493561,2	Hela-S3	cervix:
3	chr15:45490877..45493855-chr15:45879081..45881062,2	K562	blood:
4	chr1:36234891..36235604-chr15:45492659..45493288,2	Hela-S3	cervix:
5	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
6	chr15:45464999..45466823-chr15:45492725..45494272,2	K562	blood:
7	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
8	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
9	chr15:45491292..45493253-chr15:45693461..45696308,4	K562	blood:
10	chr15:45464999..45466823-chr15:45492725..45494339,3	K562	blood:
11	chr15:45490733..45493253-chr15:45692978..45696308,3	K562	blood:
12	chr12:120314350..120315302-chr15:45492568..45493350,2	NB4	blood:
13	chr15:45472426..45475821-chr15:45489773..45493159,3	K562	blood:
14	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
15	chr15:45472426..45474381-chr15:45491659..45493233,2	K562	blood:
16	chr15:45492950..45493553-chr3:50377812..50378518,2	Hela-S3	cervix:
17	chr10:73975486..73976326-chr15:45492706..45493527,2	Hela-S3	cervix:
18	chr1:28974756..28975573-chr15:45492560..45493198,2	HCT-116	colon:
19	chr15:45491756..45494677-chr15:45570318..45572091,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260035	TF binding region
ENSG00000259932	TF binding region
SHF	TF binding region
ENSG00000259932	CpG island
SHF	CpG island
ENSG00000260035	CpG island
ENSG00000259519	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000122966	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000138303	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000092853	Chromatin interaction
ENSG00000166295	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10083684	0.89[EUR][1000 genomes]
rs16940351	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16941238	0.86[EUR][1000 genomes]
rs57805764	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58547297	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59368522	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60209237	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74011376	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74011378	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74011381	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 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	chr15:45489600-45494000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:45489800-45493400	Active TSS	A549	lung
3	chr15:45489800-45493600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr15:45489800-45493600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:45489800-45493800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:45489800-45493800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:45489800-45493800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:45489800-45494000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:45490000-45493600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:45490000-45493600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:45490000-45493600	Active TSS	Fetal Lung	lung
12	chr15:45490000-45493800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:45490000-45493800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:45490000-45493800	Active TSS	Brain Anterior Caudate	brain
15	chr15:45490000-45493800	Active TSS	Fetal Kidney	kidney
16	chr15:45490000-45493800	Active TSS	K562	blood
17	chr15:45490000-45494000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:45490200-45493400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr15:45490200-45493400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:45490200-45493400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:45490200-45493400	Active TSS	Aorta	Aorta
22	chr15:45490200-45493400	Active TSS	Ovary	ovary
23	chr15:45490200-45493400	Active TSS	Psoas Muscle	Psoas
24	chr15:45490200-45493600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr15:45490200-45493600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:45490200-45493600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:45490200-45493600	Active TSS	Right Atrium	heart
28	chr15:45490200-45493600	Active TSS	GM12878-XiMat	blood
29	chr15:45490200-45493600	Active TSS	HSMMtube	muscle
30	chr15:45490200-45493600	Active TSS	NHDF-Ad	bronchial
31	chr15:45490200-45493800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:45490200-45493800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:45490200-45493800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr15:45490200-45493800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr15:45490200-45493800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:45490200-45494000	Active TSS	Brain Angular Gyrus	brain
37	chr15:45490200-45494400	Active TSS	Fetal Brain Female	brain
38	chr15:45490400-45493200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr15:45490400-45493600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:45490400-45493600	Active TSS	Brain Cingulate Gyrus	brain
41	chr15:45490400-45493600	Active TSS	Colon Smooth Muscle	Colon
42	chr15:45490400-45493600	Active TSS	Left Ventricle	heart
43	chr15:45490400-45493600	Active TSS	Right Ventricle	heart
44	chr15:45490400-45493800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr15:45490400-45493800	Active TSS	Brain Substantia Nigra	brain
46	chr15:45490400-45494000	Active TSS	Brain Hippocampus Middle	brain
47	chr15:45490600-45493400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:45490600-45493600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:45491000-45493200	Active TSS	Gastric	stomach
50	chr15:45491000-45493200	Bivalent/Poised TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links