Variant report

Variant	rs7734393
Chromosome Location	chr5:43522316-43522317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43513728..43517093-chr5:43520765..43523947,5	K562	blood:
2	chr5:43522223..43525825-chr5:43531234..43533172,3	MCF-7	breast:
3	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:

Variant related genes	Relation type
ENSG00000172244	Chromatin interaction
ENSG00000248240	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10036954	0.88[EUR][1000 genomes]
rs10038608	0.84[EUR][1000 genomes]
rs10042992	0.88[EUR][1000 genomes]
rs10045455	0.85[EUR][1000 genomes]
rs10058558	0.90[EUR][1000 genomes]
rs10059912	0.83[ASN][1000 genomes]
rs10061165	0.86[EUR][1000 genomes]
rs10074682	0.83[EUR][1000 genomes]
rs10447144	0.82[EUR][1000 genomes]
rs10462051	0.90[EUR][1000 genomes]
rs10473311	0.87[EUR][1000 genomes]
rs10941640	0.91[EUR][1000 genomes]
rs12332560	0.91[EUR][1000 genomes]
rs12651879	0.91[EUR][1000 genomes]
rs12659369	0.84[EUR][1000 genomes]
rs13185343	0.85[EUR][1000 genomes]
rs13189004	0.87[EUR][1000 genomes]
rs1389868	0.83[EUR][1000 genomes]
rs1389869	0.83[EUR][1000 genomes]
rs1428640	0.83[EUR][1000 genomes]
rs2013173	0.82[EUR][1000 genomes]
rs2132000	0.86[EUR][1000 genomes]
rs2172763	0.84[EUR][1000 genomes]
rs28437972	0.83[ASN][1000 genomes]
rs34007811	0.88[EUR][1000 genomes]
rs35710460	0.88[EUR][1000 genomes]
rs35881272	0.94[EUR][1000 genomes]
rs36013953	0.92[EUR][1000 genomes]
rs3776423	0.88[EUR][1000 genomes]
rs3806870	0.86[EUR][1000 genomes]
rs4072918	0.83[ASN][1000 genomes]
rs4072919	0.83[ASN][1000 genomes]
rs4073848	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4073850	0.93[EUR][1000 genomes]
rs4073851	0.89[EUR][1000 genomes]
rs4242099	0.82[EUR][1000 genomes]
rs4308491	0.84[EUR][1000 genomes]
rs4331909	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4367306	0.90[EUR][1000 genomes]
rs4415083	0.85[EUR][1000 genomes]
rs4467713	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4513704	0.90[EUR][1000 genomes]
rs4541663	0.83[EUR][1000 genomes]
rs4576155	0.87[EUR][1000 genomes]
rs4866746	0.85[EUR][1000 genomes]
rs4866833	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4866835	0.83[ASN][1000 genomes]
rs55641556	0.89[EUR][1000 genomes]
rs55855322	0.83[ASN][1000 genomes]
rs56008952	0.81[ASN][1000 genomes]
rs56400900	0.89[EUR][1000 genomes]
rs57547662	0.87[EUR][1000 genomes]
rs57597020	0.90[EUR][1000 genomes]
rs59001943	0.83[ASN][1000 genomes]
rs60297702	0.83[ASN][1000 genomes]
rs6451692	0.80[EUR][1000 genomes]
rs6451693	0.83[EUR][1000 genomes]
rs6451695	0.87[EUR][1000 genomes]
rs6451696	0.87[EUR][1000 genomes]
rs6451698	0.87[EUR][1000 genomes]
rs6451703	0.85[EUR][1000 genomes]
rs6451704	0.88[EUR][1000 genomes]
rs6451706	0.85[EUR][1000 genomes]
rs6451712	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67466542	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67581152	0.90[EUR][1000 genomes]
rs6858942	0.83[EUR][1000 genomes]
rs6861704	0.84[EUR][1000 genomes]
rs6862102	0.87[EUR][1000 genomes]
rs6865217	0.84[EUR][1000 genomes]
rs6866325	0.83[ASN][1000 genomes]
rs6866802	0.83[ASN][1000 genomes]
rs6869933	0.83[ASN][1000 genomes]
rs6870018	0.85[EUR][1000 genomes]
rs6870783	0.85[EUR][1000 genomes]
rs6883661	0.83[EUR][1000 genomes]
rs6884661	0.83[ASN][1000 genomes]
rs6891363	0.83[ASN][1000 genomes]
rs73100614	0.83[EUR][1000 genomes]
rs7717636	0.91[EUR][1000 genomes]
rs7724571	0.80[EUR][1000 genomes]
rs7731091	0.82[EUR][1000 genomes]
rs7735243	0.85[EUR][1000 genomes]
rs9292883	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9687341	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9885467	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
3	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:43515600-43523800	Weak transcription	Gastric	stomach
6	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
7	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
8	chr5:43515800-43523400	Weak transcription	Lung	lung
9	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:43515800-43523800	Weak transcription	Ovary	ovary
11	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43516000-43523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:43516000-43523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:43516000-43523200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:43516000-43523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:43516000-43523400	Weak transcription	Primary T cells from cord blood	blood
18	chr5:43516000-43523400	Weak transcription	Fetal Brain Female	brain
19	chr5:43516000-43523400	Weak transcription	Left Ventricle	heart
20	chr5:43516000-43523400	Weak transcription	Psoas Muscle	Psoas
21	chr5:43516000-43523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:43516000-43523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:43516000-43523800	Weak transcription	Brain Germinal Matrix	brain
24	chr5:43516000-43523800	Weak transcription	Right Ventricle	heart
25	chr5:43516000-43524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:43516000-43524000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:43516000-43524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:43516000-43524000	Weak transcription	Aorta	Aorta
29	chr5:43516000-43525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:43516000-43525200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:43516000-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:43516000-43525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:43516000-43525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:43516000-43525200	Weak transcription	Fetal Brain Male	brain
35	chr5:43516000-43525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:43516000-43525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:43516000-43525400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:43516000-43525600	Weak transcription	NHDF-Ad	bronchial
39	chr5:43516000-43527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:43516200-43523200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:43516200-43523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:43516200-43523200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:43516200-43523200	Weak transcription	Primary B cells from cord blood	blood
49	chr5:43516200-43523200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:43516200-43523200	Weak transcription	Placenta	Placenta

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