Variant report

Variant	rs202015979
Chromosome Location	chr4:74902750-74902751
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74902406..74903926-chr4:74946680..74949073,2	K562	blood:
2	chr4:74855916..74858178-chr4:74901845..74903855,2	K562	blood:
3	chr4:74902071..74908104-chr4:74918639..74927051,16	K562	blood:
4	chr4:74902434..74906647-chr4:74918639..74924896,12	K562	blood:
5	chr4:74901269..74902961-chr4:74935972..74938903,2	K562	blood:
6	chr4:74902531..74904905-chr4:74978906..74980803,2	K562	blood:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv967996	chr4:74902400-74920659	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74890200-74903200	Weak transcription	Stomach Mucosa	stomach
2	chr4:74896800-74902800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:74897800-74902800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:74897800-74902800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:74898000-74903000	Weak transcription	Gastric	stomach
6	chr4:74898200-74902800	Weak transcription	NHLF	lung
7	chr4:74898800-74903000	Weak transcription	Colonic Mucosa	Colon
8	chr4:74899000-74903000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:74899000-74903000	Weak transcription	HUVEC	blood vessel
10	chr4:74899600-74902800	Weak transcription	Hela-S3	cervix
11	chr4:74900000-74902800	Weak transcription	NHDF-Ad	bronchial
12	chr4:74900000-74903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:74900000-74903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:74900000-74903600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:74900200-74902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:74900200-74902800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:74900200-74903800	Weak transcription	Esophagus	oesophagus
18	chr4:74900600-74903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:74901400-74902800	Weak transcription	Osteobl	bone
20	chr4:74901800-74903000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:74902000-74903200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:74902200-74902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74902200-74902800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:74902200-74902800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:74902200-74902800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr4:74902200-74902800	Active TSS	K562	blood
27	chr4:74902200-74905200	Active TSS	A549	lung
28	chr4:74902400-74902800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:74902400-74902800	Active TSS	Thymus	Thymus
30	chr4:74902600-74902800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:74902600-74902800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:74902600-74902800	Active TSS	NHEK	skin
33	chr4:74902600-74903000	Enhancers	Dnd41	blood
34	chr4:74902600-74903400	Flanking Active TSS	HMEC	breast
35	chr4:74902600-74904200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:74902600-74905000	Active TSS	HSMM	muscle
37	chr4:74902600-74905200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:74902600-74905800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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