Variant report

Variant	rs6897744
Chromosome Location	chr5:118636099-118636100
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118635852..118637512-chr5:118646502..118648651,2	K562	blood:
2	chr5:118634440..118637446-chr5:118640302..118642986,4	K562	blood:

Variant related genes	Relation type
ENSG00000243333	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519579	1.00[EUR][1000 genomes]
rs13153732	1.00[EUR][1000 genomes]
rs13164306	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171443	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172873	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172935	1.00[EUR][1000 genomes]
rs13180238	0.84[EUR][1000 genomes]
rs13189229	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1394630	1.00[EUR][1000 genomes]
rs1465396	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145124	1.00[EUR][1000 genomes]
rs17145129	1.00[EUR][1000 genomes]
rs17145142	1.00[EUR][1000 genomes]
rs2012594	1.00[EUR][1000 genomes]
rs34016408	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34207529	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34692285	1.00[EUR][1000 genomes]
rs34902535	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067404	1.00[EUR][1000 genomes]
rs35113297	1.00[EUR][1000 genomes]
rs35263427	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35605034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623432	0.90[EUR][1000 genomes]
rs35834554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35956442	1.00[EUR][1000 genomes]
rs35981322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810506	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56840858	0.90[EUR][1000 genomes]
rs57001486	0.95[EUR][1000 genomes]
rs58196366	1.00[EUR][1000 genomes]
rs59085117	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60474651	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179451	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61366292	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61643326	1.00[EUR][1000 genomes]
rs6595180	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540474	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136651	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874081	1.00[EUR][1000 genomes]
rs71585210	0.95[EUR][1000 genomes]
rs71585211	0.84[EUR][1000 genomes]
rs73252330	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73791001	1.00[ASN][1000 genomes]
rs7705109	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118625400-118637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:118628000-118637000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:118628000-118637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:118628000-118637200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:118628000-118637800	Weak transcription	Aorta	Aorta
6	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:118635000-118636200	Enhancers	Pancreas	Pancrea
8	chr5:118635000-118637000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118635000-118638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:118635400-118638200	Enhancers	Dnd41	blood
11	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:118635600-118636400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr5:118635600-118640800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:118635800-118636200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr5:118635800-118636400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr5:118635800-118636400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr5:118635800-118636400	Enhancers	Stomach Mucosa	stomach
18	chr5:118635800-118636400	Flanking Active TSS	K562	blood
19	chr5:118635800-118636600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr5:118635800-118636600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:118635800-118636600	Flanking Active TSS	A549	lung
22	chr5:118635800-118636800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr5:118635800-118636800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:118635800-118636800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr5:118635800-118637000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr5:118635800-118637000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:118635800-118637600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:118635800-118638200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:118635800-118639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:118635800-118639000	Enhancers	Osteobl	bone
31	chr5:118635800-118640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:118635800-118641000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:118635800-118641400	Enhancers	Thymus	Thymus
34	chr5:118636000-118636200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr5:118636000-118636200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:118636000-118636200	Weak transcription	Fetal Thymus	thymus
37	chr5:118636000-118636200	Flanking Active TSS	HepG2	liver
38	chr5:118636000-118636800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:118636000-118636800	Genic enhancers	Primary B cells from cord blood	blood
40	chr5:118636000-118637000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:118636000-118638200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:118636000-118639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:118636000-118640000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr5:118636000-118640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:118636000-118641400	Enhancers	NHEK	skin
46	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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