Variant report

Variant	rs72950430
Chromosome Location	chr3:52695061-52695062
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52692669..52695516-chr3:52719101..52721217,2	MCF-7	breast:
2	chr3:52694542..52696482-chr3:52703787..52706365,2	K562	blood:

Variant related genes	Relation type
ENSG00000163939	Chromatin interaction
ENSG00000163938	Chromatin interaction

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

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

rs_ID	r²[population]
rs10510759	0.84[AFR][1000 genomes]
rs12107484	0.85[AFR][1000 genomes]
rs1987234	0.85[AFR][1000 genomes]
rs34173244	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35911561	0.84[AFR][1000 genomes]
rs35920544	0.84[AFR][1000 genomes]
rs56156188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56259931	0.85[AFR][1000 genomes]
rs57008939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57246324	0.85[AFR][1000 genomes]
rs57298447	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57319306	0.85[AFR][1000 genomes]
rs57560655	0.85[AFR][1000 genomes]
rs57757646	0.85[AFR][1000 genomes]
rs57869735	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58100002	0.85[AFR][1000 genomes]
rs58725214	0.85[AFR][1000 genomes]
rs58924550	0.81[AFR][1000 genomes]
rs60311166	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60415551	0.85[AFR][1000 genomes]
rs60611300	0.85[AFR][1000 genomes]
rs60682984	0.85[AFR][1000 genomes]
rs60823713	0.85[AFR][1000 genomes]
rs60916588	0.85[AFR][1000 genomes]
rs61220667	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61538294	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6445536	0.85[AMR][1000 genomes]
rs6780005	0.81[AFR][1000 genomes]
rs72947535	0.81[AFR][1000 genomes]
rs72947580	0.85[AFR][1000 genomes]
rs72947589	0.86[AFR][1000 genomes]
rs72950432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960240	0.85[AMR][1000 genomes]
rs72960281	0.85[AMR][1000 genomes]
rs72965177	0.85[AFR][1000 genomes]
rs72965181	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7619643	0.85[AMR][1000 genomes]
rs7647992	0.86[AFR][1000 genomes]
rs7648016	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:52636000-52703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:52636000-52704000	Strong transcription	Placenta	Placenta
5	chr3:52636200-52703200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:52636800-52703600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
11	chr3:52655800-52697600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr3:52655800-52704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:52656600-52704600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:52657000-52697200	Strong transcription	Liver	Liver
15	chr3:52657000-52697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:52658000-52702800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:52660800-52704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:52664600-52701600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:52666200-52702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:52670400-52704600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:52670800-52715400	Strong transcription	Dnd41	blood
23	chr3:52671000-52697600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:52671000-52697600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:52671000-52697800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:52671000-52697800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:52671000-52700800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:52671000-52701000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:52671200-52698000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52671200-52698000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:52673200-52697600	Strong transcription	Primary B cells from cord blood	blood
32	chr3:52673200-52702600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:52673600-52697800	Strong transcription	HUVEC	blood vessel
34	chr3:52680600-52697600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:52680600-52697800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:52680800-52697600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:52680800-52697600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr3:52681000-52702000	Strong transcription	Primary T cells from cord blood	blood
39	chr3:52681200-52696200	Strong transcription	Lung	lung
40	chr3:52681200-52696400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:52681200-52702400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:52681200-52702400	Strong transcription	Fetal Intestine Large	intestine
43	chr3:52681200-52702400	Strong transcription	Fetal Muscle Leg	muscle
44	chr3:52681200-52716200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr3:52681600-52696400	Strong transcription	Brain Anterior Caudate	brain
46	chr3:52682200-52702600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:52682400-52696200	Strong transcription	Brain Germinal Matrix	brain
48	chr3:52682800-52697600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:52683600-52702600	Strong transcription	Adipose Nuclei	Adipose
50	chr3:52683800-52697600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links