Variant report

Variant	rs72976366
Chromosome Location	chr2:234206567-234206568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234196980..234199300-chr2:234206108..234208506,2	MCF-7	breast:
2	chr2:234198572..234200432-chr2:234205905..234208256,2	MCF-7	breast:
3	chr2:234206531..234209535-chr2:234260932..234264181,3	MCF-7	breast:
4	chr2:234205572..234208233-chr2:234208734..234211089,2	K562	blood:
5	chr2:234206031..234207757-chr2:234262903..234264733,2	MCF-7	breast:
6	chr2:234200856..234204903-chr2:234205910..234207803,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243637	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000259793	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1000548	0.81[ASN][1000 genomes]
rs10803619	0.86[EUR][1000 genomes]
rs10929032	0.86[EUR][1000 genomes]
rs11679064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682236	0.86[EUR][1000 genomes]
rs11682898	0.85[AMR][1000 genomes]
rs11890330	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890449	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278610	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2289476	0.85[AMR][1000 genomes]
rs2304775	0.94[ASN][1000 genomes]
rs3792099	0.81[ASN][1000 genomes]
rs3792101	0.81[ASN][1000 genomes]
rs3828308	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55754152	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895356	0.94[ASN][1000 genomes]
rs56242862	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59303693	0.94[ASN][1000 genomes]
rs6431252	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6719241	1.00[ASN][1000 genomes]
rs6748547	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6753686	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72976321	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72976324	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978306	0.81[ASN][1000 genomes]
rs72978311	0.81[ASN][1000 genomes]
rs72978313	0.81[ASN][1000 genomes]
rs72978315	0.81[ASN][1000 genomes]
rs72978317	0.81[ASN][1000 genomes]
rs7564805	0.81[ASN][1000 genomes]
rs7565275	0.81[ASN][1000 genomes]
rs7578402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581670	0.86[EUR][1000 genomes]
rs7583380	1.00[ASN][1000 genomes]
rs7594365	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594781	0.94[ASN][1000 genomes]
rs7600743	0.91[AMR][1000 genomes];0.97[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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:234190600-234206600	Strong transcription	Fetal Stomach	stomach
4	chr2:234193400-234206600	Strong transcription	Primary T cells from cord blood	blood
5	chr2:234197600-234206800	Strong transcription	A549	lung
6	chr2:234198400-234206800	Strong transcription	HSMMtube	muscle
7	chr2:234199200-234210200	Weak transcription	Stomach Mucosa	stomach
8	chr2:234200200-234206600	Weak transcription	Fetal Heart	heart
9	chr2:234201600-234207200	Weak transcription	K562	blood
10	chr2:234202200-234207400	Weak transcription	Psoas Muscle	Psoas
11	chr2:234203200-234207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:234203200-234209000	Weak transcription	Fetal Brain Male	brain
13	chr2:234203400-234209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
15	chr2:234204000-234207400	Weak transcription	HUVEC	blood vessel
16	chr2:234204000-234211000	Weak transcription	Fetal Lung	lung
17	chr2:234204400-234206600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:234204600-234206600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:234204600-234207600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:234204800-234206600	Weak transcription	NH-A	brain
21	chr2:234204800-234206600	Weak transcription	NHDF-Ad	bronchial
22	chr2:234204800-234207200	Weak transcription	Small Intestine	intestine
23	chr2:234204800-234207800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:234204800-234208800	Weak transcription	Placenta	Placenta
25	chr2:234204800-234209400	Weak transcription	NHLF	lung
26	chr2:234204800-234210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:234205000-234206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:234205000-234206600	Weak transcription	Aorta	Aorta
29	chr2:234205000-234206800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:234205000-234206800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:234205000-234207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:234205000-234207200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:234205000-234207200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:234205000-234207200	Weak transcription	NHEK	skin
35	chr2:234205000-234207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:234205000-234207800	Weak transcription	Primary B cells from cord blood	blood
37	chr2:234205000-234209000	Weak transcription	GM12878-XiMat	blood
38	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
39	chr2:234205200-234206600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:234205200-234206800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:234205200-234206800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:234205200-234206800	Weak transcription	Brain Germinal Matrix	brain
43	chr2:234205200-234206800	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:234205200-234206800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:234205200-234206800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:234205200-234206800	Weak transcription	Right Ventricle	heart
47	chr2:234205200-234206800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:234205200-234207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:234205200-234207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:234205200-234207000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links