Variant report

Variant	rs4690269
Chromosome Location	chr4:485100-485101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:482802..485309-chr4:488280..490475,3	K562	blood:
2	chr4:466339..468945-chr4:483757..487788,3	MCF-7	breast:
3	chr4:478583..481418-chr4:483390..485977,2	K562	blood:
4	chr4:484899..488563-chr4:488754..492952,4	K562	blood:

Variant related genes	Relation type
ENSG00000182903	Chromatin interaction
ENSG00000251595	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10001047	0.86[AFR][1000 genomes]
rs10212708	1.00[AMR][1000 genomes]
rs1052218	1.00[AMR][1000 genomes]
rs1838040	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1001899	chr4:68809-517736	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1010829	chr4:147570-547070	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv536970	chr4:147570-547070	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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 miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:468200-492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:468400-490000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:468400-490000	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:468400-490000	Weak transcription	HepG2	liver
5	chr4:468400-490800	Weak transcription	Brain Angular Gyrus	brain
6	chr4:468400-492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:468400-492000	Weak transcription	Hela-S3	cervix
8	chr4:468400-492200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:469000-485600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr4:470400-487200	Weak transcription	Psoas Muscle	Psoas
11	chr4:472600-486000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:472800-485600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr4:473000-487400	ZNF genes & repeats	Dnd41	blood
14	chr4:473200-492000	Weak transcription	HUVEC	blood vessel
15	chr4:473600-487200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:475200-486000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:475600-490000	Weak transcription	Pancreas	Pancrea
18	chr4:476000-489800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:476200-490000	Weak transcription	Spleen	Spleen
20	chr4:476400-485400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
21	chr4:476600-491600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:476800-485600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:476800-485800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr4:477000-485600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:477600-485400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:478200-485200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:478200-485600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr4:478200-485600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:478400-485200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:478600-485200	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr4:478600-485400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:478600-485400	ZNF genes & repeats	Fetal Brain Female	brain
33	chr4:478600-485800	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr4:478800-485600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr4:479400-489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:479400-490000	Weak transcription	K562	blood
37	chr4:479600-489800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:479600-490000	Weak transcription	HMEC	breast
39	chr4:479600-490800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:479600-492200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:479600-492200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:479600-492200	Weak transcription	Right Ventricle	heart
43	chr4:480000-490200	Weak transcription	HSMMtube	muscle
44	chr4:480600-485600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:480600-489800	Weak transcription	HSMM	muscle
46	chr4:480800-489600	Weak transcription	Osteobl	bone
47	chr4:481400-485600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:482200-486000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:482200-490000	Weak transcription	NHLF	lung
50	chr4:482400-490000	Weak transcription	Left Ventricle	heart

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