Variant report

Variant	rs73839126
Chromosome Location	chr3:52706125-52706126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52694542..52696482-chr3:52703787..52706365,2	K562	blood:
2	chr3:52704943..52706661-chr3:52719465..52721201,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163939	Chromatin interaction
ENSG00000163938	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11510435	1.00[EUR][1000 genomes]
rs12107484	1.00[EUR][1000 genomes]
rs17052357	1.00[EUR][1000 genomes]
rs17052404	1.00[EUR][1000 genomes]
rs34173244	1.00[EUR][1000 genomes]
rs4532127	1.00[EUR][1000 genomes]
rs56134416	1.00[EUR][1000 genomes]
rs56156188	1.00[EUR][1000 genomes]
rs56273828	1.00[AFR][1000 genomes]
rs56276589	1.00[EUR][1000 genomes]
rs56665533	1.00[EUR][1000 genomes]
rs56960576	0.89[AMR][1000 genomes]
rs57008939	1.00[EUR][1000 genomes]
rs57298447	1.00[EUR][1000 genomes]
rs57757646	1.00[EUR][1000 genomes]
rs57789542	1.00[EUR][1000 genomes]
rs57869735	1.00[EUR][1000 genomes]
rs57946083	1.00[EUR][1000 genomes]
rs58409398	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528592	1.00[EUR][1000 genomes]
rs58564212	1.00[EUR][1000 genomes]
rs59638016	1.00[EUR][1000 genomes]
rs59869286	1.00[EUR][1000 genomes]
rs60040519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60058353	1.00[EUR][1000 genomes]
rs60256157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60311166	1.00[EUR][1000 genomes]
rs60770874	1.00[EUR][1000 genomes]
rs60830326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61220667	1.00[EUR][1000 genomes]
rs61538294	1.00[EUR][1000 genomes]
rs6445536	1.00[EUR][1000 genomes]
rs6762788	1.00[EUR][1000 genomes]
rs6769720	1.00[EUR][1000 genomes]
rs6780005	0.87[EUR][1000 genomes]
rs6780397	1.00[EUR][1000 genomes]
rs72950424	1.00[EUR][1000 genomes]
rs72950432	1.00[EUR][1000 genomes]
rs72950437	1.00[EUR][1000 genomes]
rs72960212	1.00[EUR][1000 genomes]
rs72960237	1.00[EUR][1000 genomes]
rs72960240	1.00[EUR][1000 genomes]
rs72960260	1.00[EUR][1000 genomes]
rs72960274	1.00[EUR][1000 genomes]
rs72960281	1.00[EUR][1000 genomes]
rs72960285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72965177	1.00[EUR][1000 genomes]
rs72965181	1.00[EUR][1000 genomes]
rs73837601	1.00[AFR][1000 genomes]
rs73837602	1.00[AFR][1000 genomes]
rs73837804	0.89[AMR][1000 genomes]
rs73839129	1.00[EUR][1000 genomes]
rs73839132	1.00[AFR][1000 genomes]
rs7645785	1.00[EUR][1000 genomes]
rs764636	1.00[EUR][1000 genomes]
rs7647992	1.00[EUR][1000 genomes]
rs934839	1.00[EUR][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:127 , 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	chr3:52637200-52715800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52642600-52711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:52650000-52712200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:52655200-52716400	Strong transcription	Fetal Thymus	thymus
7	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:52670800-52715400	Strong transcription	Dnd41	blood
9	chr3:52681200-52716200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:52684800-52709000	Weak transcription	Stomach Mucosa	stomach
11	chr3:52688000-52714800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:52693800-52709400	Weak transcription	Right Ventricle	heart
13	chr3:52696000-52712000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:52696200-52711800	Weak transcription	Aorta	Aorta
15	chr3:52696400-52710200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:52697600-52710200	Weak transcription	Fetal Brain Male	brain
17	chr3:52698800-52714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:52699200-52707200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:52699400-52706400	Strong transcription	Brain Hippocampus Middle	brain
20	chr3:52699400-52707000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:52699400-52715600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:52699800-52708400	Weak transcription	Psoas Muscle	Psoas
23	chr3:52700000-52706200	Strong transcription	HepG2	liver
24	chr3:52700000-52710800	Weak transcription	Small Intestine	intestine
25	chr3:52700600-52715000	Strong transcription	Primary B cells from cord blood	blood
26	chr3:52701800-52715600	Strong transcription	Brain Germinal Matrix	brain
27	chr3:52702000-52714400	Strong transcription	Fetal Lung	lung
28	chr3:52703600-52706400	Enhancers	HMEC	breast
29	chr3:52703600-52712200	Strong transcription	Liver	Liver
30	chr3:52703600-52716000	Strong transcription	Fetal Brain Female	brain
31	chr3:52703800-52706200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr3:52703800-52706400	Enhancers	NHLF	lung
33	chr3:52703800-52707000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:52703800-52713400	Strong transcription	Primary T cells from cord blood	blood
35	chr3:52703800-52715800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:52704000-52706200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:52704000-52706200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr3:52704000-52706400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:52704000-52706400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:52704000-52706400	Strong transcription	Gastric	stomach
41	chr3:52704000-52709000	Strong transcription	Fetal Intestine Small	intestine
42	chr3:52704000-52709200	Strong transcription	Fetal Stomach	stomach
43	chr3:52704000-52712800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:52704000-52714200	Strong transcription	Thymus	Thymus
45	chr3:52704000-52714600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:52704000-52716000	Strong transcription	Fetal Muscle Leg	muscle
47	chr3:52704400-52706400	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr3:52704400-52706400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:52704400-52714000	Strong transcription	Fetal Intestine Large	intestine
50	chr3:52704600-52706200	Genic enhancers	Primary T cells fromperipheralblood	blood

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