Variant report

Variant	rs4704676
Chromosome Location	chr5:79963302-79963303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79959818..79962346-chr5:79962374..79963921,2	MCF-7	breast:
2	chr5:79949741..79953345-chr5:79963177..79965614,3	K562	blood:
3	chr5:79948482..79951173-chr5:79961260..79964699,4	MCF-7	breast:
4	chr5:79864951..79867602-chr5:79962481..79965182,3	MCF-7	breast:
5	chr5:79956607..79959193-chr5:79962502..79964568,2	MCF-7	breast:
6	chr5:79959827..79961745-chr5:79962101..79964799,2	K562	blood:
7	chr5:79956480..79958255-chr5:79962360..79963991,2	MCF-7	breast:
8	chr5:79949216..79952432-chr5:79962559..79966205,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113318	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000189127	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12652038	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195291	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797877	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797880	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4703815	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704679	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6151628	0.83[EUR][1000 genomes]
rs6151639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7719004	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836811	0.89[ASN][1000 genomes]
rs836812	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv10710	chr5:79956446-79964949	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951600-79963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:79951600-79963400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:79951600-79963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
5	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
7	chr5:79951800-79964000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:79952000-79963800	Weak transcription	Fetal Heart	heart
10	chr5:79952200-79964200	Weak transcription	Brain Angular Gyrus	brain
11	chr5:79952200-79964200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr5:79952200-79964200	Weak transcription	NHLF	lung
13	chr5:79952200-79975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:79952400-79963400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:79952400-79965000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:79952400-79967400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:79952400-79975400	Weak transcription	HSMMtube	muscle
18	chr5:79952400-79976600	Strong transcription	Fetal Thymus	thymus
19	chr5:79952400-79976800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:79952400-79983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:79952600-79963800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:79952600-79965000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:79952800-79972200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:79953000-79966400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:79953200-79963400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:79953200-79963800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr5:79953200-79964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:79953200-79964200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:79953200-79965200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:79953200-79980800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:79953600-79964200	Strong transcription	Dnd41	blood
34	chr5:79953800-79969800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:79954400-79963400	Weak transcription	NHEK	skin
36	chr5:79955200-79964400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:79955400-79968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:79955800-79964400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:79956200-79979000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:79956400-80015600	Weak transcription	Psoas Muscle	Psoas
41	chr5:79956800-79963400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:79957000-79964200	Weak transcription	Left Ventricle	heart
43	chr5:79957600-79964400	Strong transcription	Fetal Lung	lung
44	chr5:79957600-79964600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:79957800-79964800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:79958200-79968800	Weak transcription	Brain Anterior Caudate	brain
47	chr5:79958200-79971600	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:79958200-79998000	Weak transcription	Fetal Brain Male	brain
49	chr5:79958400-79963400	Strong transcription	Fetal Intestine Large	intestine
50	chr5:79958800-79969800	Strong transcription	Primary T cells from cord blood	blood

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