Variant report

Variant	rs2645698
Chromosome Location	chr4:77875361-77875362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77874825..77878448-chr4:77879255..77881107,3	MCF-7	breast:
2	chr4:77875173..77877456-chr4:77900454..77902686,2	K562	blood:
3	chr4:77875173..77878998-chr4:77899246..77901954,4	K562	blood:
4	chr4:77817731..77819270-chr4:77874790..77876988,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234036	Chromatin interaction
ENSG00000186212	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10002443	0.86[MEX][hapmap]
rs10470896	0.86[MEX][hapmap]
rs11559161	0.86[MEX][hapmap]
rs1532449	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs17002332	0.86[MEX][hapmap]
rs17002334	0.86[MEX][hapmap]
rs17002346	0.86[MEX][hapmap]
rs2645668	1.00[CEU][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs2645669	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645697	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs2645699	0.86[AMR][1000 genomes]
rs2645702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703103	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs2703111	1.00[CEU][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs4252903	1.00[CEU][hapmap]
rs4859469	0.86[AMR][1000 genomes]
rs6822843	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6824360	0.86[MEX][hapmap]
rs72607857	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72607858	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72607860	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73826488	0.83[EUR][1000 genomes]
rs7696359	1.00[EUR][1000 genomes]
rs904045	1.00[EUR][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	nsv829973	chr4:77684251-77877361	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr4:77872400-77875800	Weak transcription	Spleen	Spleen
2	chr4:77872400-77877600	Weak transcription	Lung	lung
3	chr4:77872600-77875600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:77872600-77875800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:77872600-77875800	Weak transcription	Left Ventricle	heart
6	chr4:77872600-77875800	Weak transcription	Right Ventricle	heart
7	chr4:77872600-77876200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:77872600-77877600	Weak transcription	Gastric	stomach
9	chr4:77872600-77878600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:77872600-77881400	Weak transcription	Esophagus	oesophagus
11	chr4:77872600-77882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:77872600-77890800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:77872600-77894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:77872600-77899200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:77872800-77875600	Weak transcription	Brain Substantia Nigra	brain
17	chr4:77872800-77877200	Enhancers	Fetal Lung	lung
18	chr4:77872800-77877800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:77872800-77881200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:77873000-77875800	Weak transcription	Placenta	Placenta
21	chr4:77873000-77877400	Weak transcription	Fetal Intestine Large	intestine
22	chr4:77873000-77877600	Weak transcription	Colonic Mucosa	Colon
23	chr4:77873000-77877600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:77873000-77878200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:77873000-77878400	Weak transcription	A549	lung
26	chr4:77873000-77883400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:77873000-77885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:77873000-77899200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:77873200-77875600	Weak transcription	Liver	Liver
30	chr4:77873200-77876000	Enhancers	Brain Anterior Caudate	brain
31	chr4:77873200-77881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:77873400-77875800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:77873400-77876000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr4:77873400-77876400	Enhancers	HUVEC	blood vessel
35	chr4:77873400-77878000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:77873400-77878400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:77873400-77878400	Weak transcription	Stomach Mucosa	stomach
38	chr4:77873400-77884000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:77873400-77894200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:77873400-77894400	Weak transcription	NHEK	skin
41	chr4:77873600-77877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:77873600-77878000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr4:77873800-77875400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:77873800-77875400	Enhancers	Small Intestine	intestine
45	chr4:77873800-77875600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:77873800-77875800	Weak transcription	Brain Angular Gyrus	brain
47	chr4:77873800-77877400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:77873800-77878400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:77874000-77875800	Weak transcription	Fetal Kidney	kidney
50	chr4:77874000-77876200	Enhancers	Fetal Stomach	stomach

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