Variant report

Variant	rs73036778
Chromosome Location	chr3:23990459-23990460
allele	C/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	E2F4	chr3:23990296-23990474	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr3:23990402-23990547	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr3:23990335-23990584	IMR90	lung:	n/a	n/a
4	STAT3	chr3:23990310-23990612	MCF10A-Er-Src	breast:	n/a	chr3:23990481-23990488
5	POLR2A	chr3:23990034-23990555	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:23988774-23992252	A549	lung:	n/a	n/a
7	POLR2A	chr3:23990248-23990581	HCT-116	colon:	n/a	n/a
8	POLR2A	chr3:23985541-23990663	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT3	chr3:23990290-23990608	MCF10A-Er-Src	breast:	n/a	chr3:23990481-23990488
10	FOS	chr3:23990261-23990620	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr3:23990356-23990598	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr3:23989541-23990574	HepG2	liver:	n/a	n/a
13	FOS	chr3:23990266-23990609	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr3:23990265-23990609	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr3:23990322-23990599	MCF10A-Er-Src	breast:	n/a	chr3:23990481-23990488
16	FOS	chr3:23990256-23990622	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:23989629-23990518	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:23990256-23990475	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
2	chr3:23988541..23991177-chr3:24537846..24539360,2	K562	blood:
3	chr3:23988335..23991846-chr3:24002543..24006084,3	K562	blood:
4	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:
5	chr3:23985538..23993367-chr3:23993730..24003801,19	MCF-7	breast:

Variant related genes	Relation type
NKIRAS1	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000197885	Chromatin interaction

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

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

rs_ID	r²[population]
rs11917128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510558	0.87[EUR][1000 genomes]
rs55824572	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57434897	0.87[AFR][1000 genomes]
rs58241520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036780	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036786	1.00[EUR][1000 genomes]
rs73036791	0.97[EUR][1000 genomes]
rs73036794	0.97[EUR][1000 genomes]
rs73036802	0.97[EUR][1000 genomes]
rs73038519	0.97[EUR][1000 genomes]
rs73038548	0.91[EUR][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23987800-23991200	Enhancers	Fetal Heart	heart
2	chr3:23988000-23995000	Weak transcription	Spleen	Spleen
3	chr3:23988200-23991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:23988200-23992200	Enhancers	Small Intestine	intestine
5	chr3:23988200-23992200	Enhancers	Stomach Mucosa	stomach
6	chr3:23988200-23993800	Enhancers	Brain Substantia Nigra	brain
7	chr3:23988200-24000600	Weak transcription	Fetal Brain Male	brain
8	chr3:23988200-24003600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:23988400-23990800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:23988400-23991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:23988400-23991600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:23988400-23991800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:23988400-23992400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:23988400-23993600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:23988400-23995200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:23988400-23996000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:23988400-23996400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr3:23988400-24003000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:23988400-24003400	Weak transcription	Fetal Kidney	kidney
20	chr3:23988600-23990600	Enhancers	Right Ventricle	heart
21	chr3:23988600-23991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:23988600-23994000	Enhancers	Psoas Muscle	Psoas
23	chr3:23988600-23996000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:23988800-23990600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:23988800-23991000	Weak transcription	Dnd41	blood
26	chr3:23988800-23991000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr3:23988800-23991200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:23988800-23991200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr3:23989000-23990600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr3:23989000-23991000	Weak transcription	Thymus	Thymus
31	chr3:23989000-23991200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:23989000-23991200	Weak transcription	Primary T cells from cord blood	blood
33	chr3:23989000-23991400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr3:23989000-23991400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:23989000-23991400	Weak transcription	Fetal Intestine Large	intestine
36	chr3:23989000-23991400	Weak transcription	Fetal Stomach	stomach
37	chr3:23989000-23991600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:23989000-23991600	Enhancers	NHDF-Ad	bronchial
39	chr3:23989000-23991600	Enhancers	NHLF	lung
40	chr3:23989000-23992000	Enhancers	NHEK	skin
41	chr3:23989000-23992200	Enhancers	HepG2	liver
42	chr3:23989000-23992200	Enhancers	HMEC	breast
43	chr3:23989000-23993800	Enhancers	Liver	Liver
44	chr3:23989000-23996400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:23989000-23997800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:23989000-23998200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:23989200-23990800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:23989200-23991400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:23989200-23991400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:23989200-23991400	Enhancers	Hela-S3	cervix

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