Variant report

Variant	rs67918539
Chromosome Location	chr2:149075794-149075795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10199464	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11884622	0.81[ASN][1000 genomes]
rs11885393	0.81[ASN][1000 genomes]
rs11887387	0.81[ASN][1000 genomes]
rs11891262	0.81[ASN][1000 genomes]
rs11899300	0.81[ASN][1000 genomes]
rs11900654	0.81[ASN][1000 genomes]
rs11901992	0.81[ASN][1000 genomes]
rs12105632	0.82[AMR][1000 genomes]
rs16828565	0.82[EUR][1000 genomes]
rs56887986	0.81[ASN][1000 genomes]
rs57192354	0.81[ASN][1000 genomes]
rs57905160	0.81[ASN][1000 genomes]
rs60973488	0.81[ASN][1000 genomes]
rs61319805	0.81[ASN][1000 genomes]
rs61587331	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182801	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62182802	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182804	0.82[EUR][1000 genomes]
rs62182829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182835	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62182838	0.82[EUR][1000 genomes]
rs6650766	0.81[ASN][1000 genomes]
rs66509437	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66820471	0.81[ASN][1000 genomes]
rs6706461	0.81[ASN][1000 genomes]
rs6713264	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6759300	0.81[ASN][1000 genomes]
rs67778375	0.81[ASN][1000 genomes]
rs72618897	0.93[ASN][1000 genomes]
rs72618898	0.98[ASN][1000 genomes]
rs72618899	0.93[ASN][1000 genomes]
rs72618900	0.86[ASN][1000 genomes]
rs72618901	0.81[ASN][1000 genomes]
rs72618902	0.81[ASN][1000 genomes]
rs72620204	0.81[ASN][1000 genomes]
rs72620209	0.81[ASN][1000 genomes]
rs72620210	0.81[ASN][1000 genomes]
rs7561976	0.81[ASN][1000 genomes]
rs7582000	0.81[ASN][1000 genomes]
rs7595203	0.81[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	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:149031400-149079000	Weak transcription	Left Ventricle	heart
3	chr2:149056000-149076400	Weak transcription	Esophagus	oesophagus
4	chr2:149058600-149076400	Weak transcription	Aorta	Aorta
5	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:149061200-149095800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:149063400-149080600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:149067200-149095800	Weak transcription	HSMM	muscle
9	chr2:149069200-149096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:149069400-149077800	Weak transcription	Gastric	stomach
11	chr2:149069400-149096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:149069800-149076400	Weak transcription	Right Ventricle	heart
14	chr2:149071000-149078000	Weak transcription	Pancreas	Pancrea
15	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
16	chr2:149071200-149077200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:149071400-149100400	Weak transcription	Ovary	ovary
18	chr2:149071600-149078600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:149071600-149094000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:149071800-149095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:149071800-149100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:149073800-149076200	Weak transcription	Right Atrium	heart
23	chr2:149075400-149075800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:149075600-149093600	Weak transcription	Primary T cells from cord blood	blood

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