Variant report

Variant	rs6753242
Chromosome Location	chr2:234329419-234329420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234164721..234166387-chr2:234329039..234331585,2	K562	blood:
2	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
3	chr2:234329179..234330776-chr2:234332983..234335044,2	K562	blood:
4	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1000548	0.86[JPT][hapmap]
rs1046976	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10803619	0.86[JPT][hapmap]
rs10929178	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11675254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11675858	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs11676524	1.00[CHB][hapmap]
rs11679064	0.86[JPT][hapmap]
rs11681704	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11682236	0.86[JPT][hapmap]
rs11686188	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11694406	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694654	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890449	0.86[JPT][hapmap]
rs2228939	0.85[EUR][1000 genomes]
rs3754595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs3768799	0.82[EUR][1000 genomes]
rs3768801	0.85[EUR][1000 genomes]
rs3768802	0.87[EUR][1000 genomes]
rs3796090	0.86[CEU][hapmap]
rs3796092	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3820744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs3828307	1.00[CHB][hapmap]
rs3828308	0.86[JPT][hapmap]
rs56266844	0.90[EUR][1000 genomes]
rs56336977	0.90[EUR][1000 genomes]
rs6704644	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6719241	0.86[JPT][hapmap]
rs6746234	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs72980338	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72980361	0.90[EUR][1000 genomes]
rs72980376	0.85[EUR][1000 genomes]
rs7564805	0.86[JPT][hapmap]
rs7565275	0.86[JPT][hapmap]
rs7583380	0.85[JPT][hapmap]
rs7585217	0.86[JPT][hapmap]
rs7587876	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597465	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598771	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap]

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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234325600-234330600	Weak transcription	HepG2	liver
7	chr2:234326000-234329600	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:234326400-234331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
10	chr2:234326600-234330600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:234326800-234330800	Enhancers	Ovary	ovary
12	chr2:234326800-234330800	Enhancers	Small Intestine	intestine
13	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr2:234327000-234331000	Enhancers	Placenta	Placenta
15	chr2:234327200-234329600	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr2:234327200-234329800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:234327200-234330800	Enhancers	Fetal Lung	lung
18	chr2:234327200-234331200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr2:234327400-234329600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:234327400-234330000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr2:234327400-234330600	Weak transcription	Pancreas	Pancrea
22	chr2:234327400-234331200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234327400-234331400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:234327600-234329600	Flanking Active TSS	Fetal Stomach	stomach
25	chr2:234327600-234330200	Active TSS	Gastric	stomach
26	chr2:234327600-234331200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:234327600-234331800	Active TSS	Psoas Muscle	Psoas
28	chr2:234327800-234329600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:234327800-234329800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:234328000-234329600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:234328000-234329600	Enhancers	Thymus	Thymus
32	chr2:234328000-234330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:234328200-234329600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:234328200-234329600	Enhancers	Colon Smooth Muscle	Colon
35	chr2:234328200-234330200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:234328200-234331000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:234328200-234331200	Enhancers	Lung	lung
38	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:234328400-234329600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:234328400-234330200	Flanking Active TSS	Fetal Heart	heart
44	chr2:234328400-234331200	Enhancers	HSMMtube	muscle
45	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:234328600-234330000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr2:234328600-234330000	Enhancers	NH-A	brain
48	chr2:234328600-234330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:234328600-234330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:234328600-234330600	Enhancers	Duodenum Mucosa	Duodenum

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