Variant report

Variant	rs2288254
Chromosome Location	chr4:79786974-79786975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79781020..79783476-chr4:79785688..79788652,2	K562	blood:
2	chr4:79785946..79789478-chr4:79791153..79794900,4	K562	blood:
3	chr4:79695272..79698029-chr4:79784745..79787185,2	K562	blood:
4	chr4:79769174..79772080-chr4:79784280..79787147,3	K562	blood:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10018189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10023100	0.85[ASN][1000 genomes]
rs10025599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10034295	0.85[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1275045	0.96[ASN][1000 genomes]
rs1275046	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1275047	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs13108247	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs13138117	0.95[CEU][hapmap]
rs1480718	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1979444	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2554395	0.86[ASN][1000 genomes]
rs3822106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3937772	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4512020	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs62308043	0.84[ASN][1000 genomes]
rs6533951	0.81[CHD][hapmap]
rs6534083	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6534085	0.94[ASN][1000 genomes]
rs6534086	0.94[ASN][1000 genomes]
rs6534087	0.94[ASN][1000 genomes]
rs6534090	0.85[CHB][hapmap]
rs6846743	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs6854347	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7656083	0.94[ASN][1000 genomes]
rs7688534	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv1007685	chr4:79732468-79788768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:79744600-79793800	Weak transcription	Psoas Muscle	Psoas
3	chr4:79747200-79815600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
5	chr4:79749200-79793600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:79749400-79792400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:79749400-79793800	Weak transcription	Gastric	stomach
8	chr4:79749600-79793000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:79749600-79793600	Weak transcription	Brain Germinal Matrix	brain
10	chr4:79749600-79793800	Weak transcription	Fetal Brain Female	brain
11	chr4:79749800-79788000	Weak transcription	Lung	lung
12	chr4:79749800-79793400	Weak transcription	Thymus	Thymus
13	chr4:79749800-79793600	Weak transcription	Colonic Mucosa	Colon
14	chr4:79750200-79787600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:79750400-79791400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:79750400-79792200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:79750400-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:79750400-79793600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:79750400-79797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:79750600-79792600	Weak transcription	HSMMtube	muscle
21	chr4:79750600-79793600	Weak transcription	Fetal Kidney	kidney
22	chr4:79759600-79787800	Weak transcription	Fetal Stomach	stomach
23	chr4:79759600-79792400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:79760000-79792400	Weak transcription	Fetal Lung	lung
25	chr4:79760600-79787800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:79760600-79787800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:79760600-79794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:79761000-79791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:79764600-79787800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:79764600-79792400	Weak transcription	Brain Anterior Caudate	brain
31	chr4:79767400-79789200	Weak transcription	Brain Substantia Nigra	brain
32	chr4:79768400-79811400	Weak transcription	Hela-S3	cervix
33	chr4:79768800-79787200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:79771400-79801000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:79772800-79792000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:79774400-79793600	Weak transcription	Right Ventricle	heart
37	chr4:79774600-79793400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:79774800-79793200	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:79775000-79788000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:79776000-79792000	Weak transcription	Esophagus	oesophagus
41	chr4:79776200-79788200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:79777200-79792400	Weak transcription	Brain Angular Gyrus	brain
43	chr4:79779000-79792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:79779000-79814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:79779600-79791800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
47	chr4:79780200-79788000	Strong transcription	Primary B cells from cord blood	blood
48	chr4:79781200-79787400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:79781400-79793000	Weak transcription	Ovary	ovary
50	chr4:79781800-79787800	Weak transcription	Primary T cells from cord blood	blood

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