Variant report

Variant	rs10425979
Chromosome Location	chr19:35652355-35652356
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	NFYA	chr19:35652180-35652655	K562	blood:	n/a	chr19:35652435-35652453
2	USF2	chr19:35652349-35652611	H1-hESC	embryonic stem cell:	n/a	chr19:35652418-35652429
3	USF2	chr19:35652300-35652591	Hela-S3	cervix:	n/a	chr19:35652418-35652429
4	POLR2A	chr19:35652207-35652683	K562	blood:	n/a	n/a
5	USF1	chr19:35652320-35652541	SK-N-SH_RA	brain:	n/a	chr19:35652418-35652429
6	USF1	chr19:35652171-35652615	H1-hESC	embryonic stem cell:	n/a	chr19:35652418-35652429
7	USF2	chr19:35652262-35652561	GM12878	blood:	n/a	chr19:35652418-35652429
8	NFYB	chr19:35652266-35652607	GM12878	blood:	n/a	chr19:35652401-35652416 chr19:35652432-35652447
9	CBX3	chr19:35652112-35652758	K562	blood:	n/a	n/a
10	USF1	chr19:35652230-35652593	A549	lung:	n/a	chr19:35652418-35652429
11	POLR2A	chr19:35652169-35653220	K562	blood:	n/a	n/a
12	NFYB	chr19:35652277-35652555	Hela-S3	cervix:	n/a	chr19:35652401-35652416 chr19:35652432-35652447
13	MAX	chr19:35652327-35652524	K562	blood:	n/a	n/a
14	USF1	chr19:35652221-35652644	ECC-1	luminal epithelium:	n/a	chr19:35652418-35652429
15	USF1	chr19:35652100-35652691	HCT-116	colon:	n/a	chr19:35652418-35652429
16	POLR2A	chr19:35652323-35652801	K562	blood:	n/a	n/a
17	RCOR1	chr19:35652164-35652499	K562	blood:	n/a	n/a
18	USF1	chr19:35652014-35652747	K562	blood:	n/a	chr19:35652418-35652429
19	USF1	chr19:35652250-35652609	H1-hESC	embryonic stem cell:	n/a	chr19:35652418-35652429
20	USF1	chr19:35652190-35652703	ECC-1	luminal epithelium:	n/a	chr19:35652418-35652429
21	USF1	chr19:35652293-35652527	SK-N-SH_RA	brain:	n/a	chr19:35652418-35652429
22	POLR2A	chr19:35652251-35652842	K562	blood:	n/a	n/a
23	USF1	chr19:35652313-35652522	HepG2	liver:	n/a	chr19:35652418-35652429
24	RCOR1	chr19:35652195-35652788	K562	blood:	n/a	n/a
25	USF1	chr19:35652140-35652634	K562	blood:	n/a	chr19:35652418-35652429
26	ATF3	chr19:35652264-35652557	K562	blood:	n/a	n/a
27	USF2	chr19:35652244-35652617	K562	blood:	n/a	chr19:35652418-35652429
28	NFYA	chr19:35652302-35652560	Hela-S3	cervix:	n/a	chr19:35652435-35652453
29	NFYB	chr19:35652102-35652713	K562	blood:	n/a	chr19:35652401-35652416 chr19:35652432-35652447

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35651223..35652783-chr19:35738946..35741329,2	MCF-7	breast:
2	chr19:35650702..35653470-chr19:35739367..35741084,2	K562	blood:

Variant related genes	Relation type
FXYD5	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10403374	1.00[AMR][1000 genomes]
rs10410327	1.00[AMR][1000 genomes]
rs10414019	1.00[AMR][1000 genomes]
rs10416084	1.00[AMR][1000 genomes]
rs10416544	1.00[AMR][1000 genomes]
rs10416795	1.00[AMR][1000 genomes]
rs10419861	1.00[AMR][1000 genomes]
rs10423421	1.00[AMR][1000 genomes]
rs10426676	1.00[AMR][1000 genomes]
rs28625363	1.00[AMR][1000 genomes]
rs28626713	1.00[AMR][1000 genomes]
rs60886964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35646400-35655000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
3	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:35647000-35652400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:35647000-35652400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:35647000-35653000	Weak transcription	Stomach Mucosa	stomach
8	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
10	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:35647600-35652400	Strong transcription	Primary B cells from cord blood	blood
13	chr19:35647600-35652400	Weak transcription	Right Ventricle	heart
14	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
15	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:35647600-35654200	Strong transcription	NHLF	lung
17	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:35647800-35652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:35647800-35652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:35647800-35652400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr19:35647800-35652400	Strong transcription	Lung	lung
22	chr19:35647800-35652400	Strong transcription	NHEK	skin
23	chr19:35647800-35653200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:35647800-35653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:35648000-35652400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:35648000-35652400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:35648000-35652400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr19:35648000-35652400	Strong transcription	Primary T cells from cord blood	blood
30	chr19:35648000-35652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:35648000-35652400	Strong transcription	Placenta	Placenta
32	chr19:35648000-35652600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:35648000-35653000	Strong transcription	Spleen	Spleen
34	chr19:35648000-35653200	Strong transcription	HMEC	breast
35	chr19:35648000-35653400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:35648000-35653600	Strong transcription	HUVEC	blood vessel
37	chr19:35648000-35653800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:35648000-35654200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr19:35648000-35654800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:35648000-35655000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:35648000-35655200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:35648200-35653400	Strong transcription	Dnd41	blood
45	chr19:35648200-35653800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:35648200-35654000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr19:35648200-35656600	Strong transcription	Fetal Thymus	thymus
48	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:35648400-35652400	Strong transcription	Aorta	Aorta
50	chr19:35648400-35653600	Strong transcription	Osteobl	bone

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