Variant report

Variant	rs57777914
Chromosome Location	chr3:48603817-48603818
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	POLR2A	chr3:48603315-48603899	U87	brain:	n/a	n/a
2	FOSL2	chr3:48603518-48603869	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:48603082-48604004	U87	brain:	n/a	n/a
4	POLR2A	chr3:48602796-48604239	A549	lung:	n/a	n/a
5	MAFK	chr3:48603566-48603838	HepG2	liver:	n/a	chr3:48603700-48603715
6	POLR2A	chr3:48603575-48603894	HCT-116	colon:	n/a	n/a
7	EBF1	chr3:48603602-48603824	GM12878	blood:	n/a	chr3:48603743-48603754
8	POLR2A	chr3:48603076-48604030	U87	brain:	n/a	n/a
9	JUND	chr3:48603573-48603869	Hela-S3	cervix:	n/a	chr3:48603705-48603716
10	FOS	chr3:48603543-48603853	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr3:48603307-48603934	NB4	blood:	n/a	chr3:48603400-48603410 chr3:48603538-48603548 chr3:48603567-48603577
12	POLR2A	chr3:48603357-48603824	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:48603315-48603905	U87	brain:	n/a	n/a
14	MAFK	chr3:48603560-48603864	IMR90	lung:	n/a	chr3:48603700-48603715
15	EBF1	chr3:48603594-48603851	GM12878	blood:	n/a	chr3:48603743-48603754
16	EBF1	chr3:48603559-48603906	GM12878	blood:	n/a	chr3:48603743-48603754
17	FOSL2	chr3:48603437-48603923	A549	lung:	n/a	n/a
18	FOS	chr3:48603540-48603870	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFK	chr3:48603607-48603839	HepG2	liver:	n/a	chr3:48603700-48603715
20	FOSL2	chr3:48603371-48603977	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr3:48603242-48605212	Hela-S3	cervix:	n/a	n/a
22	FOS	chr3:48603552-48603853	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFK	chr3:48603581-48603840	Hela-S3	cervix:	n/a	chr3:48603700-48603715
24	FOS	chr3:48603565-48603876	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:48603451-48603822	HCT-116	colon:	n/a	n/a
26	MYC	chr3:48603310-48603839	NB4	blood:	n/a	chr3:48603400-48603410 chr3:48603538-48603548 chr3:48603567-48603577
27	TCF12	chr3:48603404-48603829	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48603540..48606248-chr3:48645461..48648473,3	K562	blood:
2	chr3:48598382..48600078-chr3:48601801..48604759,2	K562	blood:
3	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:
4	chr3:48603206..48606480-chr3:48608320..48612943,6	K562	blood:

Variant related genes	Relation type
PFKFB4	TF binding region
COL7A1	TF binding region
UCN2	TF binding region
ENSG00000010256	Chromatin interaction
ENSG00000114270	Chromatin interaction
ENSG00000145040	Chromatin interaction
ENSG00000114268	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7637885	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv3811	chr3:48599180-48643809	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48596600-48606800	Genic enhancers	A549	lung
2	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:48597600-48606200	Genic enhancers	HMEC	breast
4	chr3:48598600-48604000	Weak transcription	Fetal Intestine Large	intestine
5	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
6	chr3:48598800-48604400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:48598800-48604800	Enhancers	Fetal Muscle Trunk	muscle
8	chr3:48598800-48606400	Weak transcription	Colonic Mucosa	Colon
9	chr3:48598800-48609000	Weak transcription	Esophagus	oesophagus
10	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
11	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
12	chr3:48599000-48604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:48599000-48614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:48599000-48623600	Weak transcription	Ovary	ovary
15	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart
16	chr3:48599200-48616800	Weak transcription	Fetal Heart	heart
17	chr3:48599200-48630600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:48599400-48604400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:48599400-48605600	Weak transcription	Right Ventricle	heart
20	chr3:48599400-48606600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:48599800-48605400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:48600400-48604000	Enhancers	Fetal Muscle Leg	muscle
23	chr3:48600600-48604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:48600600-48604200	Enhancers	NHDF-Ad	bronchial
25	chr3:48600600-48604400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:48600600-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:48600800-48604000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:48601000-48605000	Genic enhancers	NHEK	skin
29	chr3:48601000-48605800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:48601000-48606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:48601000-48631000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:48601200-48616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:48601400-48614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:48601600-48604200	Enhancers	NH-A	brain
35	chr3:48601600-48604400	Enhancers	HSMM	muscle
36	chr3:48601600-48609400	Strong transcription	Fetal Intestine Small	intestine
37	chr3:48601600-48631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:48601800-48604000	Enhancers	Osteobl	bone
39	chr3:48601800-48605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:48601800-48608600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:48601800-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:48601800-48613600	Weak transcription	Brain Anterior Caudate	brain
43	chr3:48601800-48614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:48601800-48614600	Weak transcription	Brain Substantia Nigra	brain
45	chr3:48601800-48614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:48601800-48617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:48601800-48633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:48602000-48604400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:48602000-48604600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:48602000-48614400	Weak transcription	Spleen	Spleen

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