Variant report

Variant	rs756796
Chromosome Location	chr19:35809800-35809801
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	SP1	chr19:35809410-35810658	HCT-116	colon:	n/a	n/a
2	FOSL2	chr19:35809739-35810437	MCF-7	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
3	USF1	chr19:35809756-35810300	A549	lung:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
4	MAX	chr19:35809740-35810450	MCF-7	breast:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
5	GATA3	chr19:35809719-35810467	MCF-7	breast:	n/a	chr19:35810188-35810197
6	MAZ	chr19:35809621-35810280	K562	blood:	n/a	chr19:35809953-35809963
7	ELK1	chr19:35809771-35810311	Hela-S3	cervix:	n/a	n/a
8	SPI1	chr19:35809501-35810044	HL-60	blood:	n/a	n/a
9	ELF1	chr19:35809569-35810081	K562	blood:	n/a	chr19:35809783-35809796
10	SPI1	chr19:35809579-35809879	K562	blood:	n/a	n/a
11	MAX	chr19:35809725-35810468	MCF-7	breast:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
12	MAX	chr19:35809778-35810319	K562	blood:	n/a	chr19:35809953-35809963
13	POLR2A	chr19:35809681-35810485	Hela-S3	cervix:	n/a	n/a
14	NR3C1	chr19:35809784-35810360	A549	lung:	n/a	chr19:35810004-35810013 chr19:35810235-35810248
15	POLR2A	chr19:35809775-35810454	U87	brain:	n/a	n/a
16	E2F6	chr19:35809652-35810395	A549	lung:	n/a	chr19:35810112-35810123
17	SMC3	chr19:35809747-35810403	Hela-S3	cervix:	n/a	chr19:35809857-35809867
18	USF1	chr19:35809491-35810518	HCT-116	colon:	n/a	chr19:35810081-35810090 chr19:35810078-35810091 chr19:35810080-35810089 chr19:35810080-35810089
19	RCOR1	chr19:35809678-35810240	K562	blood:	n/a	n/a
20	FOS	chr19:35809771-35810362	MCF10A-Er-Src	breast:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
21	CHD2	chr19:35809776-35809889	K562	blood:	n/a	n/a
22	FOXM1	chr19:35809729-35810393	MCF-7	breast:	n/a	n/a
23	ZNF143	chr19:35809764-35810400	Hela-S3	cervix:	n/a	n/a
24	CUX1	chr19:35809743-35810003	K562	blood:	n/a	n/a
25	MTA3	chr19:35809705-35810259	GM12878	blood:	n/a	n/a
26	E2F6	chr19:35809781-35810223	K562	blood:	n/a	chr19:35810112-35810123
27	ZKSCAN1	chr19:35809657-35810387	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:35809739-35810374	U87	brain:	n/a	n/a
29	NR2F2	chr19:35809547-35810282	K562	blood:	n/a	n/a
30	SPI1	chr19:35809545-35810001	HL-60	blood:	n/a	n/a
31	ELF1	chr19:35809800-35810261	GM12878	blood:	n/a	n/a
32	FOS	chr19:35809631-35810358	HUVEC	blood vessel:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
33	JUND	chr19:35809510-35810568	HCT-116	colon:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810185-35810196 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
34	FOSL2	chr19:35809735-35810297	A549	lung:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
35	POLR2A	chr19:35809614-35810253	K562	blood:	n/a	n/a
36	RFX5	chr19:35809755-35810423	Hela-S3	cervix:	n/a	n/a
37	ZBTB7A	chr19:35809621-35809835	K562	blood:	n/a	n/a
38	YY1	chr19:35809686-35809851	K562	blood:	n/a	n/a
39	MAX	chr19:35809501-35810547	HCT-116	colon:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
40	SP1	chr19:35809501-35810723	HCT-116	colon:	n/a	n/a
41	JUN	chr19:35809370-35810482	K562	blood:	n/a	chr19:35810003-35810013 chr19:35810226-35810235 chr19:35810003-35810013 chr19:35810074-35810087 chr19:35810004-35810012 chr19:35810187-35810195 chr19:35810003-35810013 chr19:35810186-35810196
42	TFAP2A	chr19:35809714-35810466	Hela-S3	cervix:	n/a	chr19:35810254-35810264 chr19:35810254-35810264 chr19:35810254-35810264 chr19:35810254-35810264
43	MAX	chr19:35809730-35810523	A549	lung:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
44	SP1	chr19:35809785-35810411	A549	lung:	n/a	n/a
45	MAX	chr19:35809381-35810694	HCT-116	colon:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
46	POLR2A	chr19:35809592-35810428	HCT-116	colon:	n/a	n/a
47	NR2F2	chr19:35809578-35810379	MCF-7	breast:	n/a	n/a
48	NR2F2	chr19:35809741-35810426	MCF-7	breast:	n/a	n/a
49	MAX	chr19:35809763-35810435	Hela-S3	cervix:	n/a	chr19:35809953-35809963 chr19:35810368-35810378
50	TFAP2C	chr19:35809720-35810519	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35758596..35761330-chr19:35808386..35811398,6	MCF-7	breast:
2	chr19:35607895..35610299-chr19:35808518..35810247,2	MCF-7	breast:
3	chr19:35759827..35760405-chr19:35809677..35810195,2	MCF-7	breast:
4	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
5	chr19:35740175..35741891-chr19:35807694..35809845,2	MCF-7	breast:
6	chr19:35604701..35607129-chr19:35809231..35811359,2	MCF-7	breast:
7	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
8	chr19:35807878..35810423-chr19:36035383..36039227,3	MCF-7	breast:
9	chr19:35614004..35615566-chr19:35808376..35809985,2	MCF-7	breast:
10	chr19:35771719..35773722-chr19:35808312..35810561,2	K562	blood:

Variant related genes	Relation type
CD22	TF binding region
ENSG00000236144	Chromatin interaction
ENSG00000012124	Chromatin interaction
ENSG00000269553	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000089356	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000105697	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs10153506	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1034597	1.00[MKK][hapmap]
rs10411704	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10411883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11669734	1.00[ASW][hapmap];0.94[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7251526	1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs928938	0.94[CEU][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1006379	chr19:35798572-35810821	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
9	nsv978807	chr19:35806669-35810074	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs756796	MAG	cis	Artery Aorta	GTEx
rs756796	U62631.5	cis	Thyroid	GTEx
rs756796	SIRT2	cis	cerebellum	SCAN
rs756796	KCNN4	cis	cerebellum	SCAN
rs756796	FFAR1	cis	Thyroid	GTEx
rs756796	KCNK6	cis	parietal	SCAN
rs756796	GSK3A	cis	parietal	SCAN
rs756796	MAG	cis	Thyroid	GTEx
rs756796	CD22	cis	Thyroid	GTEx
rs756796	CD22	cis	lung	GTEx
rs756796	MIR5196	cis	Thyroid	GTEx
rs756796	CD22	cis	Artery Tibial	GTEx
rs756796	MAG	cis	lung	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35794400-35810000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:35798200-35811400	Weak transcription	Liver	Liver
3	chr19:35803400-35809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:35803400-35809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:35804200-35809800	Weak transcription	Fetal Kidney	kidney
6	chr19:35804200-35811000	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:35804600-35809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:35805600-35811400	Enhancers	K562	blood
9	chr19:35806800-35810600	Enhancers	Primary B cells from cord blood	blood
10	chr19:35807800-35812000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr19:35807800-35815800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:35808000-35811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:35808000-35812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:35808000-35812800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:35808200-35812000	Enhancers	Placenta	Placenta
16	chr19:35808400-35809800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr19:35808400-35810200	Enhancers	Ovary	ovary
18	chr19:35808400-35812000	Enhancers	Spleen	Spleen
19	chr19:35808600-35809800	Weak transcription	Right Ventricle	heart
20	chr19:35808600-35810600	Enhancers	HepG2	liver
21	chr19:35808600-35811600	Enhancers	Fetal Muscle Trunk	muscle
22	chr19:35808600-35812000	Enhancers	Brain Cingulate Gyrus	brain
23	chr19:35808800-35809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:35808800-35809800	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:35808800-35810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:35808800-35811000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:35809000-35810000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:35809200-35809800	Enhancers	Brain Anterior Caudate	brain
29	chr19:35809200-35810600	Enhancers	NHEK	skin
30	chr19:35809400-35809800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr19:35809400-35809800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr19:35809400-35810200	Enhancers	Colonic Mucosa	Colon
33	chr19:35809400-35810400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:35809400-35810400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:35809400-35810400	Enhancers	Lung	lung
36	chr19:35809400-35810600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:35809400-35810600	Flanking Active TSS	Hela-S3	cervix
38	chr19:35809400-35810600	Enhancers	HMEC	breast
39	chr19:35809400-35810600	Enhancers	NHLF	lung
40	chr19:35809400-35810800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:35809400-35811600	Enhancers	NHDF-Ad	bronchial
42	chr19:35809400-35812000	Enhancers	Brain Substantia Nigra	brain
43	chr19:35809400-35812200	Enhancers	Brain Hippocampus Middle	brain
44	chr19:35809600-35809800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:35809600-35809800	Enhancers	A549	lung
46	chr19:35809600-35810000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:35809600-35810000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:35809600-35810000	Enhancers	Fetal Thymus	thymus
49	chr19:35809600-35810200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr19:35809600-35810200	Enhancers	NH-A	brain

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