Variant report

Variant	rs274798
Chromosome Location	chr19:20844617-20844618
allele	A/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	ELF1	chr19:20844066-20844626	SK-N-SH	brain:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
2	SRF	chr19:20844484-20844645	GM12878	blood:	n/a	n/a
3	SP1	chr19:20844207-20844691	GM12878	blood:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
4	POLR2A	chr19:20843869-20844789	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr19:20844015-20844639	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:20843867-20844653	PANC-1	pancreas:	n/a	n/a
7	PBX3	chr19:20844103-20844705	SK-N-SH	brain:	n/a	chr19:20844495-20844504 chr19:20844538-20844547
8	SP1	chr19:20844148-20844714	HepG2	liver:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
9	ELF1	chr19:20844120-20844673	HepG2	liver:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
10	POLR2A	chr19:20843052-20844704	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:20844076-20844649	HepG2	liver:	n/a	n/a
12	PBX3	chr19:20844351-20844632	GM12878	blood:	n/a	chr19:20844495-20844504 chr19:20844538-20844547
13	SRF	chr19:20844427-20844654	GM12878	blood:	n/a	n/a
14	ELF1	chr19:20844123-20844654	K562	blood:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
15	REST	chr19:20843446-20844762	H1-neurons	neurons:	n/a	chr19:20844139-20844159
16	IRF1	chr19:20844270-20844646	K562	blood:	n/a	chr19:20844473-20844487
17	RFX5	chr19:20843878-20844837	SK-N-SH	brain:	n/a	chr19:20844427-20844436 chr19:20844456-20844465
18	POLR2A	chr19:20843999-20844699	K562	blood:	n/a	n/a
19	POLR2A	chr19:20843961-20844706	HUVEC	blood vessel:	n/a	n/a
20	SRF	chr19:20844451-20844638	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:20844072-20844620	HUVEC	blood vessel:	n/a	n/a
22	MAZ	chr19:20844367-20844669	HepG2	liver:	n/a	n/a
23	TAF1	chr19:20843884-20844663	H1-neurons	neurons:	n/a	n/a
24	FOS	chr19:20844243-20844638	K562	blood:	n/a	n/a
25	ELF1	chr19:20844188-20844630	HepG2	liver:	n/a	chr19:20844391-20844402 chr19:20844389-20844402
26	GABPA	chr19:20844145-20844685	SK-N-SH	brain:	n/a	chr19:20844477-20844486
27	NFYA	chr19:20844051-20844706	K562	blood:	n/a	chr19:20844426-20844439 chr19:20844456-20844466 chr19:20844425-20844439 chr19:20844424-20844439 chr19:20844454-20844468 chr19:20844455-20844468 chr19:20844427-20844437
28	SP1	chr19:20844164-20844670	H1-hESC	embryonic stem cell:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
29	PBX3	chr19:20844195-20844799	SK-N-SH	brain:	n/a	chr19:20844495-20844504 chr19:20844538-20844547
30	GABPA	chr19:20844272-20844629	HepG2	liver:	n/a	chr19:20844477-20844486
31	NFYB	chr19:20844100-20844701	K562	blood:	n/a	chr19:20844426-20844439 chr19:20844456-20844466 chr19:20844425-20844439 chr19:20844424-20844439 chr19:20844454-20844468 chr19:20844455-20844468 chr19:20844427-20844437
32	CEBPB	chr19:20844416-20844644	K562	blood:	n/a	n/a
33	SP2	chr19:20844295-20844625	H1-hESC	embryonic stem cell:	n/a	chr19:20844475-20844490
34	SP1	chr19:20844195-20844632	GM12878	blood:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
35	POLR2A	chr19:20843265-20844694	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP1	chr19:20844206-20844671	K562	blood:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
37	SP2	chr19:20844178-20844741	HepG2	liver:	n/a	chr19:20844475-20844490
38	POLR2A	chr19:20844163-20844674	HepG2	liver:	n/a	n/a
39	MXI1	chr19:20843059-20844879	SK-N-SH	brain:	n/a	n/a
40	SP4	chr19:20844189-20844633	H1-hESC	embryonic stem cell:	n/a	chr19:20844475-20844491 chr19:20844473-20844489
41	SRF	chr19:20844413-20844632	GM12878	blood:	n/a	n/a
42	ELF1	chr19:20843985-20844776	SK-N-SH	brain:	n/a	chr19:20844391-20844402 chr19:20844389-20844402 chr19:20844175-20844187
43	CHD2	chr19:20844218-20844645	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr19:20843944-20844618	SK-N-SH	brain:	n/a	n/a
45	HEY1	chr19:20844061-20844700	HepG2	liver:	n/a	n/a
46	SP4	chr19:20844291-20844671	H1-hESC	embryonic stem cell:	n/a	chr19:20844475-20844491 chr19:20844473-20844489
47	SP1	chr19:20844117-20844684	H1-hESC	embryonic stem cell:	n/a	chr19:20844476-20844485 chr19:20844476-20844486 chr19:20844477-20844486 chr19:20844446-20844467 chr19:20844475-20844487 chr19:20844475-20844487 chr19:20844476-20844490 chr19:20844476-20844486 chr19:20844476-20844485
48	SPI1	chr19:20844448-20844646	K562	blood:	n/a	n/a
49	POLR2A	chr19:20844142-20844695	K562	blood:	n/a	n/a
50	ARID3A	chr19:20844355-20844678	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNF626	TF binding region
ENSG00000269110	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10416694	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10421730	0.81[AMR][1000 genomes]
rs274799	0.91[AMR][1000 genomes]
rs579161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs671517	0.81[ASN][1000 genomes]
rs7253524	0.81[AMR][1000 genomes]
rs7256571	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
2	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv978786	chr19:20818886-20884983	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911407	chr19:20818886-20885811	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911408	chr19:20818886-20885811	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1065039	chr19:20818886-20977326	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2751781	chr19:20818886-20985425	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv578921	chr19:20818886-20985425	ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458510	chr19:20818886-20987550	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578910	chr19:20818886-20987550	Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv578917	chr19:20818886-20989873	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv578918	chr19:20818886-21008212	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv3447275	chr19:20818886-21030779	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking 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	32 gene(s)	inside rSNPs	diseases
18	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
19	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20842400-20844800	Active TSS	Fetal Kidney	kidney
2	chr19:20842600-20844800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:20842600-20844800	Active TSS	Primary T cells from cord blood	blood
4	chr19:20842800-20845200	Active TSS	HepG2	liver
5	chr19:20843000-20844800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr19:20843200-20844800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr19:20843400-20844800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:20843400-20844800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:20843400-20844800	Active TSS	Fetal Intestine Large	intestine
10	chr19:20843600-20844800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:20843600-20844800	Active TSS	Primary B cells from cord blood	blood
12	chr19:20843600-20844800	Active TSS	Right Atrium	heart
13	chr19:20843600-20845200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:20843600-20845200	Active TSS	Brain Hippocampus Middle	brain
15	chr19:20843600-20845400	Active TSS	Brain Substantia Nigra	brain
16	chr19:20843600-20845800	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:20843800-20844800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:20843800-20844800	Active TSS	Adipose Nuclei	Adipose
19	chr19:20843800-20844800	Active TSS	Fetal Stomach	stomach
20	chr19:20843800-20845200	Active TSS	Brain Anterior Caudate	brain
21	chr19:20844200-20847800	Weak transcription	Fetal Heart	heart
22	chr19:20844400-20845000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:20844400-20845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:20844400-20847200	Weak transcription	Small Intestine	intestine
25	chr19:20844400-20847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:20844400-20847800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:20844400-20847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:20844400-20847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:20844400-20847800	Weak transcription	Fetal Brain Male	brain
30	chr19:20844400-20847800	Weak transcription	Gastric	stomach
31	chr19:20844600-20844800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:20844600-20844800	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr19:20844600-20844800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:20844600-20844800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:20844600-20844800	Weak transcription	Brain Angular Gyrus	brain
36	chr19:20844600-20844800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:20844600-20844800	Weak transcription	Esophagus	oesophagus
38	chr19:20844600-20845000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:20844600-20845200	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:20844600-20845200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:20844600-20845200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr19:20844600-20845200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:20844600-20845200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:20844600-20845400	Weak transcription	Pancreas	Pancrea
45	chr19:20844600-20845800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr19:20844600-20847000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:20844600-20847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:20844600-20847600	Weak transcription	Placenta	Placenta
49	chr19:20844600-20847600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:20844600-20847600	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links