Variant report

Variant	rs60409867
Chromosome Location	chr2:40648218-40648219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12328630	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13422783	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17025946	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17025948	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17039007	0.95[ASN][1000 genomes]
rs6745267	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73926212	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7576564	1.00[EUR][1000 genomes]
rs991938	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40635800-40652600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40637200-40649000	Weak transcription	Dnd41	blood
4	chr2:40642800-40654600	Weak transcription	HSMM	muscle
5	chr2:40644200-40656000	Weak transcription	HMEC	breast
6	chr2:40644200-40656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:40644200-40658600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:40645000-40649600	Enhancers	Fetal Stomach	stomach
9	chr2:40645400-40649800	Enhancers	Colon Smooth Muscle	Colon
10	chr2:40645600-40648400	Enhancers	NHDF-Ad	bronchial
11	chr2:40645600-40650000	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:40646200-40648800	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:40646200-40649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:40646200-40655800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:40646400-40654200	Weak transcription	Fetal Brain Male	brain
16	chr2:40646400-40658200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:40646600-40670800	Weak transcription	Fetal Brain Female	brain
18	chr2:40646800-40648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40646800-40648800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:40646800-40649000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:40646800-40651000	Weak transcription	Ovary	ovary
22	chr2:40646800-40657800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40647000-40648400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:40647600-40648400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:40647600-40649400	Enhancers	Aorta	Aorta
26	chr2:40647600-40649400	Enhancers	Right Atrium	heart
27	chr2:40647600-40662200	Weak transcription	Brain Germinal Matrix	brain
28	chr2:40647800-40649400	Enhancers	Right Ventricle	heart
29	chr2:40647800-40655600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:40647800-40658200	Weak transcription	Osteobl	bone
31	chr2:40648000-40648600	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:40648000-40648800	Weak transcription	NHLF	lung
33	chr2:40648000-40658200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:40648000-40667200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:40648200-40648400	Transcr. at gene 5' and 3'	Fetal Heart	heart
36	chr2:40648200-40649400	Enhancers	Left Ventricle	heart
37	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney

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