Variant report

Variant	rs4958991
Chromosome Location	chr5:177367076-177367077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:175625956..175628511-chr5:177366543..177368721,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248596	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11738026	0.80[ASN][1000 genomes]
rs4318803	0.85[ASN][1000 genomes]
rs4327608	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4428434	0.80[ASN][1000 genomes]
rs4958983	0.86[ASN][1000 genomes]
rs4958984	0.82[ASN][1000 genomes]
rs4958992	0.84[ASN][1000 genomes]
rs6601187	0.85[ASN][1000 genomes]
rs6875636	0.82[ASN][1000 genomes]
rs6881018	0.82[ASN][1000 genomes]
rs9764398	0.85[ASN][1000 genomes]
rs9765519	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv521629	chr5:177364884-177396200	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3377185	chr5:177365371-177368219	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177365600-177368200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:177365800-177367200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:177365800-177367200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:177365800-177367200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr5:177365800-177367200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr5:177365800-177367400	Active TSS	NHLF	lung
7	chr5:177366000-177367200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:177366000-177367200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:177366000-177367200	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr5:177366000-177367200	Active TSS	A549	lung
11	chr5:177366000-177367200	Active TSS	HSMM	muscle
12	chr5:177366000-177367200	Active TSS	NHDF-Ad	bronchial
13	chr5:177366000-177371200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:177366200-177367200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:177366200-177367200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:177366200-177367200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:177366200-177367400	Active TSS	Pancreas	Pancrea
18	chr5:177366200-177371400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:177366200-177371400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:177366400-177367400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:177366400-177370600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:177366400-177378800	Weak transcription	Fetal Intestine Small	intestine
23	chr5:177366600-177367200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr5:177366600-177370000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:177366600-177370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:177366600-177371400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:177366800-177367200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177366800-177367200	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:177366800-177367200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:177366800-177367200	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:177366800-177367400	Enhancers	Liver	Liver
32	chr5:177366800-177368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:177366800-177368000	Weak transcription	Left Ventricle	heart
34	chr5:177366800-177368800	Weak transcription	Thymus	Thymus
35	chr5:177366800-177370200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:177366800-177370200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:177366800-177370200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:177366800-177370200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:177366800-177370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:177366800-177370600	Weak transcription	Primary B cells from cord blood	blood
41	chr5:177366800-177371400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:177366800-177371400	Weak transcription	Gastric	stomach
43	chr5:177366800-177371400	Weak transcription	Lung	lung
44	chr5:177367000-177367200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:177367000-177367200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:177367000-177367200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:177367000-177367200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:177367000-177367200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:177367000-177367200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr5:177367000-177367200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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