Variant report

Variant	rs375303669
Chromosome Location	chr5:74736748-74736749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74735651..74738520-chr5:74798535..74800607,2	K562	blood:
2	chr5:74735308..74738290-chr5:74961776..74964047,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
2	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74709600-74760200	Weak transcription	Gastric	stomach
5	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
8	chr5:74721600-74741400	Weak transcription	Fetal Lung	lung
9	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:74721800-74741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:74721800-74742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
13	chr5:74722000-74737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:74722200-74737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:74722200-74749800	Weak transcription	Liver	Liver
16	chr5:74722600-74738000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:74722600-74742200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:74722800-74737400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:74723000-74741400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:74723200-74738000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:74725600-74741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:74729800-74741400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:74730400-74757400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:74731200-74738400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:74731800-74737200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:74731800-74737400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:74731800-74741400	Weak transcription	Aorta	Aorta
28	chr5:74731800-74741600	Weak transcription	HSMMtube	muscle
29	chr5:74731800-74742400	Weak transcription	Ovary	ovary
30	chr5:74731800-74757400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:74732000-74742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:74732000-74742600	Weak transcription	Lung	lung
33	chr5:74732000-74756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:74732000-74760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:74732000-74787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:74733000-74737400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:74735400-74737400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:74735400-74737600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:74735400-74742200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:74735600-74741400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:74736000-74741000	Weak transcription	Primary B cells from cord blood	blood
42	chr5:74736600-74738600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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