Variant report

Variant	rs530118363
Chromosome Location	chr4:48657503-48657504
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	chr4:48657502-48657527	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48652508..48655525-chr4:48656294..48658905,3	K562	blood:
2	chr4:48644058..48646870-chr4:48657277..48658947,3	K562	blood:
3	chr4:48652921..48654969-chr4:48656237..48658200,2	K562	blood:
4	chr4:48635131..48636662-chr4:48655697..48657913,2	K562	blood:

Variant related genes	Relation type
FRYL	TF binding region
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3373065	chr4:48656895-48659843	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3419637	chr4:48657295-48659393	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:48645400-48663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48645400-48664200	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:48645600-48664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48653000-48666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:48653000-48667600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:48653200-48665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:48653400-48669200	Weak transcription	Gastric	stomach
16	chr4:48653800-48664600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48654000-48657600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:48654800-48657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:48655000-48657600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:48655000-48657600	Enhancers	Dnd41	blood
22	chr4:48655400-48657600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:48655400-48657600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr4:48655400-48657600	Enhancers	HUVEC	blood vessel
25	chr4:48655400-48659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:48656200-48657600	Enhancers	Brain Cingulate Gyrus	brain
28	chr4:48656200-48657600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:48656200-48657600	Enhancers	Brain Substantia Nigra	brain
30	chr4:48656200-48657600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:48656200-48657600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:48656200-48659200	Weak transcription	Brain Germinal Matrix	brain
33	chr4:48656200-48664200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:48656200-48667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:48656200-48670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:48656600-48658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:48656600-48658800	Weak transcription	Ovary	ovary
38	chr4:48656600-48662000	Weak transcription	Small Intestine	intestine
39	chr4:48656600-48662400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:48656600-48665600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:48656600-48665800	Weak transcription	NHEK	skin
42	chr4:48656600-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:48656600-48667600	Weak transcription	Left Ventricle	heart
44	chr4:48656600-48667800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:48656600-48667800	Weak transcription	Primary T cells from cord blood	blood
46	chr4:48656600-48667800	Weak transcription	Psoas Muscle	Psoas
47	chr4:48656600-48669800	Weak transcription	Esophagus	oesophagus
48	chr4:48656600-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:48656800-48660400	Weak transcription	Fetal Intestine Small	intestine

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