Variant report

Variant	rs4602344
Chromosome Location	chr3:155548196-155548197
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:155546434..155549740-chr3:155588922..155591609,3	K562	blood:
2	chr3:155527339..155529123-chr3:155547741..155549452,2	K562	blood:
3	chr3:155547513..155550160-chr3:155562103..155564520,2	MCF-7	breast:
4	chr3:155545740..155549004-chr3:155568991..155572484,3	K562	blood:
5	chr3:155542702..155544232-chr3:155546123..155548906,2	K562	blood:

Variant related genes	Relation type
ENSG00000169359	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1025341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1027535	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1035990	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10513483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11928152	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12492572	0.88[ASN][1000 genomes]
rs12493448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13315001	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1991545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28651906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28693702	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3087838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55890963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58069048	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58087784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59849326	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6441013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6441014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6441015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6775631	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6780109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6787767	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6790836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6797143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6800944	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6805683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73003562	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73007382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7616485	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7617024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7618361	0.82[EUR][1000 genomes]
rs7618998	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7620836	0.82[EUR][1000 genomes]
rs7623386	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9818344	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9851800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9853408	0.82[EUR][1000 genomes]
rs9877641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9879847	0.82[EUR][1000 genomes]
rs9881705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv877681	chr3:155535670-155654017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155524400-155565800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:155524400-155567400	Weak transcription	Lung	lung
3	chr3:155524400-155569400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:155524600-155563400	Weak transcription	Brain Angular Gyrus	brain
5	chr3:155524600-155568000	Weak transcription	HUVEC	blood vessel
6	chr3:155530600-155569800	Weak transcription	Aorta	Aorta
7	chr3:155533200-155561800	Weak transcription	Gastric	stomach
8	chr3:155533400-155565800	Weak transcription	HepG2	liver
9	chr3:155533400-155569400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:155535000-155568000	Weak transcription	Right Ventricle	heart
11	chr3:155535200-155551200	Weak transcription	NHEK	skin
12	chr3:155535400-155568800	Weak transcription	Osteobl	bone
13	chr3:155535600-155568000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:155536800-155568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:155537200-155565600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:155537400-155564000	Weak transcription	Fetal Brain Female	brain
17	chr3:155538600-155558800	Weak transcription	Pancreas	Pancrea
18	chr3:155539200-155555400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:155540000-155569400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:155540200-155568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:155541000-155552000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:155541000-155568000	Weak transcription	Psoas Muscle	Psoas
23	chr3:155541200-155567400	Weak transcription	Ovary	ovary
24	chr3:155541400-155551200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:155541600-155567800	Weak transcription	Colonic Mucosa	Colon
26	chr3:155541800-155565800	Weak transcription	NHDF-Ad	bronchial
27	chr3:155541800-155566000	Weak transcription	Small Intestine	intestine
28	chr3:155542200-155552200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:155542800-155549400	Strong transcription	Liver	Liver
30	chr3:155542800-155549600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr3:155542800-155553200	Weak transcription	Primary T cells from cord blood	blood
32	chr3:155542800-155560800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:155542800-155569600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:155543000-155549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:155543000-155553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:155543000-155566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:155543000-155569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:155543000-155569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:155543000-155569400	Weak transcription	NHLF	lung
40	chr3:155543000-155570200	Weak transcription	Esophagus	oesophagus
41	chr3:155543200-155549200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:155543200-155562400	Weak transcription	Left Ventricle	heart
43	chr3:155543200-155569400	Weak transcription	A549	lung
44	chr3:155543600-155549000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:155544200-155548200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:155544200-155548400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:155544200-155551200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:155544200-155569000	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:155544400-155548400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:155544800-155548800	Strong transcription	Placenta	Placenta

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