Variant report

Variant	rs60969702
Chromosome Location	chr19:56832894-56832895
allele	C/T
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	chr19:56832577-56832943	K562	blood:	n/a	n/a
2	RCOR1	chr19:56832621-56834110	K562	blood:	n/a	n/a
3	TBL1XR1	chr19:56832673-56833027	K562	blood:	n/a	n/a
4	ATF1	chr19:56832654-56833000	K562	blood:	n/a	n/a
5	STAT5A	chr19:56832627-56833028	K562	blood:	n/a	chr19:56832840-56832848
6	TEAD4	chr19:56832520-56833024	K562	blood:	n/a	n/a
7	BHLHE40	chr19:56832648-56832955	K562	blood:	n/a	n/a
8	CEBPD	chr19:56832532-56833068	K562	blood:	n/a	n/a
9	CEBPB	chr19:56832676-56833019	K562	blood:	n/a	n/a
10	NR2F2	chr19:56832571-56832945	K562	blood:	n/a	n/a
11	MAFK	chr19:56832627-56833882	K562	blood:	n/a	chr19:56832977-56832988 chr19:56832977-56832988 chr19:56832976-56832987
12	GATA2	chr19:56832612-56832997	K562	blood:	n/a	n/a
13	JUND	chr19:56832609-56833696	K562	blood:	n/a	n/a
14	POLR2A	chr19:56832185-56834017	PBDE	blood:	n/a	n/a
15	RCOR1	chr19:56832715-56833052	K562	blood:	n/a	n/a
16	GATA1	chr19:56832574-56833002	PBDEFetal	blood:	n/a	n/a
17	MAFF	chr19:56832763-56833703	K562	blood:	n/a	n/a
18	GATA2	chr19:56832544-56832970	SH-SY5Y	brain:	n/a	n/a
19	ZMIZ1	chr19:56832643-56832945	K562	blood:	n/a	n/a
20	CCNT2	chr19:56832659-56832976	K562	blood:	n/a	n/a
21	SUZ12	chr19:56832705-56832894	H1-hESC	embryonic stem cell:	n/a	n/a
22	CUX1	chr19:56832692-56833692	K562	blood:	n/a	n/a
23	IRF1	chr19:56832628-56833039	K562	blood:	n/a	n/a
24	CEBPB	chr19:56832628-56832999	K562	blood:	n/a	n/a
25	CEBPD	chr19:56832504-56833060	K562	blood:	n/a	n/a
26	GATA1	chr19:56832003-56834225	PBDE	blood:	n/a	chr19:56832167-56832183 chr19:56833121-56833131
27	TEAD4	chr19:56832543-56833112	K562	blood:	n/a	n/a
28	EP300	chr19:56832590-56834123	K562	blood:	n/a	chr19:56833434-56833443 chr19:56833926-56833940
29	TAL1	chr19:56832538-56833017	K562	blood:	n/a	n/a
30	GATA2	chr19:56832595-56832995	K562	blood:	n/a	n/a
31	GATA1	chr19:56832051-56834247	K562	blood:	n/a	chr19:56832167-56832183 chr19:56833121-56833131

No.	Distal block	Cell Line	Cell type
1	chr19:56825352..56829856-chr19:56831358..56835885,6	K562	blood:
2	chr19:56760039..56762057-chr19:56831322..56833020,2	K562	blood:
3	chr19:56824639..56829612-chr19:56829732..56835885,11	K562	blood:
4	chr19:56832521..56834727-chr19:56879587..56882084,2	K562	blood:

Variant related genes	Relation type
VN2R17P	TF binding region
ENSG00000200646	TF binding region
ENSG00000213014	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000200646	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000240225	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12973009	1.00[ASN][1000 genomes]
rs34008538	0.92[ASN][1000 genomes]
rs34833657	1.00[ASN][1000 genomes]
rs35366276	1.00[ASN][1000 genomes]
rs35560203	1.00[ASN][1000 genomes]
rs35920556	1.00[ASN][1000 genomes]
rs7252814	1.00[ASN][1000 genomes]
rs7253522	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active 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	88 gene(s)	inside rSNPs	diseases
10	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1067261	chr19:56820571-56854916	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56827600-56835400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:56829000-56837000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:56829200-56834200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:56829600-56833600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr19:56829800-56834000	Enhancers	Primary hematopoietic stem cells	blood
6	chr19:56829800-56834200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:56830000-56833400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr19:56831600-56833200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:56832000-56833200	Enhancers	Left Ventricle	heart
10	chr19:56832200-56833000	Enhancers	Duodenum Mucosa	Duodenum
11	chr19:56832200-56833400	Enhancers	Placenta	Placenta
12	chr19:56832200-56833800	Enhancers	Primary B cells from cord blood	blood
13	chr19:56832200-56834000	Enhancers	Right Atrium	heart
14	chr19:56832200-56834200	Flanking Active TSS	K562	blood
15	chr19:56832400-56833000	Enhancers	Lung	lung
16	chr19:56832400-56833000	Enhancers	Right Ventricle	heart
17	chr19:56832400-56833200	Enhancers	Brain Hippocampus Middle	brain
18	chr19:56832600-56834000	Enhancers	Fetal Heart	heart
19	chr19:56832800-56833000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:56832800-56833000	Enhancers	Colonic Mucosa	Colon
21	chr19:56832800-56833000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr19:56832800-56833400	Enhancers	Fetal Kidney	kidney
23	chr19:56832800-56833600	Enhancers	Adipose Nuclei	Adipose
24	chr19:56832800-56834000	Enhancers	Primary B cells from peripheral blood	blood

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