Variant report

Variant	rs62316207
Chromosome Location	chr4:69175055-69175056
allele	A/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	chr4:69174459-69175996	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:69174864-69175310	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:69174962-69175488	U87	brain:	n/a	n/a
4	POLR2A	chr4:69173617-69177487	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:69174953-69175983	A549	lung:	n/a	n/a
6	POLR2A	chr4:69174962-69175635	U87	brain:	n/a	n/a
7	POLR2A	chr4:69174867-69175747	U87	brain:	n/a	n/a
8	POLR2A	chr4:69174980-69175340	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr4:69174867-69175753	U87	brain:	n/a	n/a
10	POLR2A	chr4:69174955-69175775	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:69174898-69178258	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:69174537-69181187	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69165664..69169018-chr4:69173169..69176114,3	K562	blood:

Variant related genes	Relation type
APOOP4	TF binding region
ENSG00000249531	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4860926	0.87[ASN][1000 genomes]
rs62316048	0.83[AMR][1000 genomes]
rs62316050	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69167000-69179400	Weak transcription	HepG2	liver
2	chr4:69169200-69176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:69172800-69176200	Weak transcription	HSMM	muscle
4	chr4:69173000-69176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:69173200-69176400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:69173400-69178600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:69173600-69176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:69173600-69176400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:69173600-69176400	Weak transcription	HSMMtube	muscle
10	chr4:69173800-69176600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:69174000-69176600	Weak transcription	Left Ventricle	heart
12	chr4:69174000-69178000	Weak transcription	Osteobl	bone
13	chr4:69174000-69182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:69174000-69182000	Weak transcription	Esophagus	oesophagus
15	chr4:69174000-69182600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:69174200-69176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:69174400-69176200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:69174400-69176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:69174400-69176600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:69174400-69177600	Weak transcription	NHLF	lung
21	chr4:69174400-69179800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:69174400-69179800	Weak transcription	Fetal Stomach	stomach
23	chr4:69174400-69182000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:69174600-69176200	Weak transcription	Liver	Liver
25	chr4:69174600-69176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:69174600-69176400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:69174800-69176400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:69174800-69176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:69174800-69176400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:69174800-69176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:69174800-69176400	Weak transcription	Adipose Nuclei	Adipose
32	chr4:69174800-69176400	Weak transcription	Brain Anterior Caudate	brain
33	chr4:69174800-69176400	Weak transcription	Brain Germinal Matrix	brain
34	chr4:69174800-69176400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:69174800-69176400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:69174800-69176400	Weak transcription	GM12878-XiMat	blood
37	chr4:69174800-69176600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:69174800-69176600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:69174800-69177800	Weak transcription	HMEC	breast
40	chr4:69174800-69178800	Weak transcription	Lung	lung
41	chr4:69175000-69176600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:69175000-69176600	Weak transcription	Primary T cells from cord blood	blood
43	chr4:69175000-69176600	Weak transcription	Fetal Thymus	thymus
44	chr4:69175000-69176600	Weak transcription	A549	lung
45	chr4:69175000-69176600	Weak transcription	NH-A	brain
46	chr4:69175000-69177200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:69175000-69177200	Weak transcription	Placenta	Placenta
48	chr4:69175000-69177800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:69175000-69178000	Weak transcription	Fetal Kidney	kidney
50	chr4:69175000-69178000	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links