Variant report

Variant	rs7252518
Chromosome Location	chr19:37569368-37569369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:364)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37568761-37569621	GM15510	blood:	n/a	n/a
2	HCFC1	chr19:37568913-37569705	K562	blood:	n/a	n/a
3	SIX5	chr19:37569014-37569469	K562	blood:	n/a	n/a
4	SIN3AK20	chr19:37569247-37569755	PANC-1	pancreas:	n/a	n/a
5	BHLHE40	chr19:37568717-37569782	GM12878	blood:	n/a	chr19:37568972-37568988 chr19:37568994-37569010
6	POLR2A	chr19:37568820-37569588	HepG2	liver:	n/a	n/a
7	ZBTB33	chr19:37569044-37569543	HepG2	liver:	n/a	n/a
8	ELK4	chr19:37569201-37569613	Hela-S3	cervix:	n/a	chr19:37569316-37569327
9	GABPA	chr19:37569034-37569641	A549	lung:	n/a	chr19:37569086-37569100 chr19:37569088-37569097
10	STAT1	chr19:37568505-37569525	GM12878	blood:	n/a	chr19:37569017-37569029
11	MYC	chr19:37569021-37569797	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFK	chr19:37569221-37569888	K562	blood:	n/a	n/a
13	POLR2A	chr19:37568891-37569494	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:37568574-37569742	SK-N-MC	brain:	n/a	n/a
15	SMC3	chr19:37568515-37569758	GM12878	blood:	n/a	n/a
16	HEY1	chr19:37568915-37569492	K562	blood:	n/a	chr19:37569386-37569401
17	MAX	chr19:37568914-37570457	Hela-S3	cervix:	n/a	chr19:37569904-37569911
18	POLR2A	chr19:37568724-37569598	NB4	blood:	n/a	n/a
19	TAF1	chr19:37568741-37569472	H1-neurons	neurons:	n/a	n/a
20	TCF12	chr19:37568479-37569961	A549	lung:	n/a	chr19:37569389-37569396 chr19:37569682-37569691 chr19:37568994-37569001
21	MAZ	chr19:37568954-37569710	Hela-S3	cervix:	n/a	n/a
22	E2F6	chr19:37568688-37569765	K562	blood:	n/a	chr19:37569087-37569096
23	CHD2	chr19:37568886-37569705	H1-hESC	embryonic stem cell:	n/a	chr19:37568986-37568996
24	HEY1	chr19:37568869-37569577	K562	blood:	n/a	chr19:37569386-37569401
25	POLR2A	chr19:37568768-37569722	MCF-7	breast:	n/a	n/a
26	ELF1	chr19:37568918-37569532	K562	blood:	n/a	chr19:37568974-37568986
27	BRCA1	chr19:37569104-37569522	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr19:37568998-37569423	GM12892	blood:	n/a	n/a
29	MAX	chr19:37568744-37569760	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr19:37568819-37569613	A549	lung:	n/a	n/a
31	EBF1	chr19:37569057-37569755	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:37568571-37569607	GM12891	blood:	n/a	n/a
33	MAZ	chr19:37568546-37569963	GM12878	blood:	n/a	chr19:37569904-37569911
34	YY1	chr19:37569007-37569509	ECC-1	luminal epithelium:	n/a	n/a
35	TBL1XR1	chr19:37569066-37569476	K562	blood:	n/a	n/a
36	POLR2A	chr19:37568588-37569771	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:37568676-37569607	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr19:37568787-37569585	HUVEC	blood vessel:	n/a	n/a
39	ZBTB33	chr19:37569009-37569666	GM12878	blood:	n/a	n/a
40	HDAC2	chr19:37569018-37569599	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr19:37568948-37569447	HepG2	liver:	n/a	chr19:37568964-37568980
42	UBTF	chr19:37569007-37569401	K562	blood:	n/a	n/a
43	POLR2A	chr19:37568821-37569612	GM12892	blood:	n/a	n/a
44	TCF12	chr19:37569089-37569370	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF143	chr19:37568862-37569672	Hela-S3	cervix:	n/a	n/a
46	BCL3	chr19:37569152-37570044	A549	lung:	n/a	n/a
47	CTCF	chr19:37569240-37569390	HUVEC	blood vessel:	n/a	n/a
48	HDAC2	chr19:37568835-37569568	MCF-7	breast:	n/a	n/a
49	WRNIP1	chr19:37568574-37569990	GM12878	blood:	n/a	n/a
50	ETS1	chr19:37568719-37569904	A549	lung:	n/a	chr19:37568986-37568997

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37569350-37569400	AG09309	skin:	n/a
2	chr19:37569350-37569400	HCM	heart:	n/a
3	chr19:37569352-37569402	SK-N-MC	brain:	n/a
4	chr19:37569352-37569402	RPTEC	kidney:	n/a
5	chr19:37569352-37569402	GM12891	blood:	n/a
6	chr19:37569352-37569402	ProgFib	skin:	n/a
7	chr19:37569350-37569400	AoSMC	blood vessel:	n/a
8	chr19:37569350-37569400	GM12891	blood:	n/a
9	chr19:37569350-37569400	HMEC	breast:	n/a
10	chr19:37569350-37569400	PrEC	prostate:	n/a
11	chr19:37569350-37569400	SAEC	small airway:	n/a
12	chr19:37569352-37569402	H1-hESC	embryonic stem cell:	embryo
13	chr19:37569350-37569400	SK-N-SH	brain:	n/a
14	chr19:37569352-37569402	HCPEpiC	choroid plexus:	n/a
15	chr19:37569352-37569402	HCF	heart:	n/a
16	chr19:37569352-37569402	Caco-2	colon:	n/a
17	chr19:37569352-37569402	GM12878	blood:	n/a
18	chr19:37569352-37569402	NH-A	brain:	n/a
19	chr19:37569352-37569402	SKMC	muscle:	n/a
20	chr19:37569352-37569402	HEK293	kidney:	embryo
21	chr19:37569350-37569400	CMK	blood:	n/a
22	chr19:37569350-37569400	NB4	blood:	n/a
23	chr19:37569350-37569400	A549	lung:	n/a
24	chr19:37569350-37569400	ProgFib	skin:	n/a
25	chr19:37569350-37569400	GM12892	blood:	n/a
26	chr19:37569350-37569400	HNPCEpiC	eye:	n/a
27	chr19:37569352-37569402	K562	blood:	n/a
28	chr19:37569350-37569400	HIPEpiC	eye:	n/a
29	chr19:37569352-37569402	HL-60	blood:	n/a
30	chr19:37569352-37569402	SK-N-SH	brain:	n/a
31	chr19:37569352-37569402	MCF10A-Er-Src	breast:	n/a
32	chr19:37569352-37569402	SAEC	small airway:	n/a
33	chr19:37569350-37569400	ECC-1	luminal epithelium:	n/a
34	chr19:37569352-37569402	Hela-S3	cervix:	n/a
35	chr19:37569352-37569402	NHBE	bronchial:	n/a
36	chr19:37569352-37569402	AG10803	skin:	n/a
37	chr19:37569352-37569402	IMR90	lung:	fetal
38	chr19:37569350-37569400	AG10803	skin:	n/a
39	chr19:37569350-37569400	U87	brain:	n/a
40	chr19:37569350-37569400	MCF-7	breast:	n/a
41	chr19:37569352-37569402	ECC-1	luminal epithelium:	n/a
42	chr19:37569350-37569400	NHBE	bronchial:	n/a
43	chr19:37569350-37569400	MCF10A-Er-Src	breast:	n/a
44	chr19:37569352-37569402	Jurkat	blood:	n/a
45	chr19:37569350-37569400	ovcar-3	ovarian:	n/a
46	chr19:37569352-37569402	ovcar-3	ovarian:	n/a
47	chr19:37569352-37569402	AG04449	skin:	fetal
48	chr19:37569352-37569402	AoSMC	blood vessel:	n/a
49	chr19:37569350-37569400	HEEpiC	esophagus:	n/a
50	chr19:37569352-37569402	HCM	heart:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37567784..37569957-chr19:37706405..37709557,3	MCF-7	breast:
2	chr19:37567228..37570692-chr19:37707204..37709250,4	K562	blood:
3	chr19:37568801..37570844-chr19:37707204..37709199,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF585A-4	chr19:37569000-37569507	ENSG00000267345.1

No data

Variant related genes	Relation type
ZNF420	TF binding region
ZNF420	CpG island
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10402227	0.81[EUR][1000 genomes]
rs10403877	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs10410788	0.81[EUR][1000 genomes]
rs10419685	0.81[EUR][1000 genomes]
rs10424415	0.81[EUR][1000 genomes]
rs10426077	0.81[EUR][1000 genomes]
rs10426229	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11878527	0.81[EUR][1000 genomes]
rs12459546	0.81[EUR][1000 genomes]
rs2080821	0.81[EUR][1000 genomes]
rs2309220	1.00[EUR][1000 genomes]
rs487318	0.81[EUR][1000 genomes]
rs491951	0.81[EUR][1000 genomes]
rs500244	0.81[EUR][1000 genomes]
rs500370	0.81[EUR][1000 genomes]
rs510834	0.81[EUR][1000 genomes]
rs519455	0.81[EUR][1000 genomes]
rs526426	0.81[EUR][1000 genomes]
rs529944	0.81[EUR][1000 genomes]
rs547831	0.81[EUR][1000 genomes]
rs562480	0.81[EUR][1000 genomes]
rs56286503	0.81[EUR][1000 genomes]
rs56838197	0.81[EUR][1000 genomes]
rs57427270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57904468	0.81[EUR][1000 genomes]
rs579731	0.81[EUR][1000 genomes]
rs58192768	1.00[AMR][1000 genomes]
rs58960386	1.00[AMR][1000 genomes]
rs59122318	0.81[EUR][1000 genomes]
rs59929627	0.81[EUR][1000 genomes]
rs7254717	1.00[EUR][1000 genomes]
rs7258808	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs73612926	1.00[EUR][1000 genomes]
rs73626751	0.81[EUR][1000 genomes]
rs73930869	0.81[EUR][1000 genomes]
rs8105472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111543	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8112903	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826272	0.81[EUR][1000 genomes]
rs9304876	0.81[EUR][1000 genomes]
rs9304877	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr19:37567800-37569600	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:37567800-37570000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37567800-37570200	Active TSS	Psoas Muscle	Psoas
4	chr19:37568000-37569400	Active TSS	Fetal Lung	lung
5	chr19:37568000-37569600	Active TSS	Fetal Brain Female	brain
6	chr19:37568000-37569800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:37568000-37569800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37568000-37570000	Active TSS	HSMMtube	muscle
9	chr19:37568000-37570200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:37568000-37570600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:37568200-37569600	Active TSS	GM12878-XiMat	blood
12	chr19:37568200-37569600	Active TSS	HMEC	breast
13	chr19:37568200-37569800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37568200-37569800	Active TSS	Brain Hippocampus Middle	brain
15	chr19:37568200-37570000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:37568200-37570000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:37568200-37570000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:37568200-37570000	Active TSS	NHLF	lung
19	chr19:37568200-37570200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:37568200-37570600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:37568200-37570600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:37568200-37570600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:37568200-37570600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:37568400-37569400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr19:37568400-37569600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:37568400-37569600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr19:37568400-37569600	Active TSS	Stomach Smooth Muscle	stomach
28	chr19:37568400-37569600	Active TSS	HUVEC	blood vessel
29	chr19:37568400-37569800	Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:37568400-37569800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:37568400-37569800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:37568400-37569800	Active TSS	Brain Angular Gyrus	brain
33	chr19:37568400-37569800	Active TSS	Brain Anterior Caudate	brain
34	chr19:37568400-37569800	Active TSS	Colon Smooth Muscle	Colon
35	chr19:37568400-37569800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr19:37568400-37569800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr19:37568400-37569800	Active TSS	Thymus	Thymus
38	chr19:37568400-37569800	Active TSS	NH-A	brain
39	chr19:37568400-37569800	Active TSS	Osteobl	bone
40	chr19:37568400-37570000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:37568400-37570000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:37568400-37570000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:37568400-37570000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:37568400-37570000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:37568400-37570000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:37568400-37570000	Active TSS	Brain Substantia Nigra	brain
47	chr19:37568400-37570000	Active TSS	Fetal Stomach	stomach
48	chr19:37568400-37570000	Active TSS	Rectal Smooth Muscle	rectum
49	chr19:37568400-37570000	Active TSS	Right Ventricle	heart
50	chr19:37568400-37570000	Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links