Variant report

Variant	rs72737330
Chromosome Location	chr1:216773493-216773494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:216772875..216776991-chr1:216777748..216786237,10	MCF-7	breast:
2	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:
3	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:
4	chr1:216527475..216530440-chr1:216773266..216776037,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10495030	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11117629	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117630	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572723	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572747	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572764	0.82[EUR][1000 genomes]
rs11572766	0.82[EUR][1000 genomes]
rs11572768	0.82[EUR][1000 genomes]
rs11572775	0.82[EUR][1000 genomes]
rs11577585	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128345	1.00[ASN][1000 genomes]
rs1498284	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611906	0.82[EUR][1000 genomes]
rs17669321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17671115	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846227	0.82[EUR][1000 genomes]
rs1976331	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152472	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173372	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2789727	1.00[ASN][1000 genomes]
rs2789728	1.00[ASN][1000 genomes]
rs35508539	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55635948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735199	0.82[EUR][1000 genomes]
rs72737309	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737313	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737323	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737329	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737332	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945452	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:216769800-216773800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:216770000-216773600	Weak transcription	Fetal Heart	heart
5	chr1:216770000-216773600	Weak transcription	Fetal Kidney	kidney
6	chr1:216770000-216773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:216770000-216774000	Weak transcription	Left Ventricle	heart
8	chr1:216770200-216773600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:216770200-216773600	Weak transcription	Fetal Lung	lung
10	chr1:216770200-216773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:216770800-216773800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:216771400-216773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:216771400-216773800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:216771600-216774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:216773000-216773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:216773200-216773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:216773200-216773600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:216773200-216773600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:216773200-216773800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr1:216773200-216773800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:216773200-216773800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:216773200-216773800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:216773200-216773800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:216773200-216773800	Enhancers	Fetal Muscle Leg	muscle
25	chr1:216773200-216773800	Enhancers	Right Ventricle	heart
26	chr1:216773200-216774000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:216773200-216774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:216773200-216774000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:216773200-216774000	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:216773400-216773600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:216773400-216773600	Enhancers	Brain Anterior Caudate	brain
32	chr1:216773400-216773600	Enhancers	Brain Substantia Nigra	brain
33	chr1:216773400-216773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:216773400-216773800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr1:216773400-216773800	Enhancers	Brain Germinal Matrix	brain
36	chr1:216773400-216773800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:216773400-216774000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:216773400-216774000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:216773400-216774000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:216773400-216774000	Enhancers	Brain Hippocampus Middle	brain

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