Variant report

Variant	rs62148761
Chromosome Location	chr2:40402169-40402170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40395306..40398028-chr2:40400733..40404513,3	K562	blood:
2	chr2:40401909..40404574-chr3:16441893..16443396,2	MCF-7	breast:
3	chr2:40395306..40398028-chr2:40400733..40404513,4	K562	blood:
4	chr2:40390508..40393940-chr2:40401107..40404487,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13002111	0.86[AFR][1000 genomes]
rs57957091	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62148763	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62148766	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
4	chr2:40392600-40405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
6	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
7	chr2:40394200-40406800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:40396400-40405400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:40397000-40405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40397600-40404800	Weak transcription	Right Ventricle	heart
11	chr2:40397800-40404800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40398200-40404800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:40398400-40406200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:40399200-40404800	Weak transcription	Left Ventricle	heart
15	chr2:40399400-40404800	Weak transcription	Dnd41	blood
16	chr2:40399600-40402200	Weak transcription	Fetal Heart	heart
17	chr2:40400000-40404600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:40400600-40426800	Weak transcription	Osteobl	bone
19	chr2:40400800-40404600	Weak transcription	NHDF-Ad	bronchial
20	chr2:40401000-40404600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:40401000-40405400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:40401200-40404600	Weak transcription	HSMM	muscle
23	chr2:40401600-40402400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:40401800-40403200	Enhancers	HSMMtube	muscle
25	chr2:40401800-40404600	Weak transcription	Primary monocytes fromperipheralblood	blood

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