Variant report

Variant	rs17025386
Chromosome Location	chr2:40397251-40397252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40395306..40398028-chr2:40400733..40404513,3	K562	blood:
2	chr2:40395306..40398028-chr2:40400733..40404513,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1035160	0.87[AMR][1000 genomes]
rs17025352	1.00[MEX][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs17025364	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17025489	1.00[AMR][1000 genomes]
rs17025531	1.00[AMR][1000 genomes]
rs17038990	0.92[YRI][hapmap];0.87[AMR][1000 genomes]
rs434795	1.00[MEX][hapmap]

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:32 , 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	chr2:40375600-40401800	Weak transcription	HSMMtube	muscle
4	chr2:40378000-40399000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:40381600-40398800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:40391600-40397600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
8	chr2:40392600-40405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:40392800-40397400	Weak transcription	Dnd41	blood
10	chr2:40393000-40398000	Weak transcription	Fetal Brain Male	brain
11	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
12	chr2:40393200-40401200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:40393400-40400000	Weak transcription	NHDF-Ad	bronchial
14	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
15	chr2:40393800-40399000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:40394200-40406800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:40395200-40397400	Enhancers	Fetal Heart	heart
18	chr2:40395400-40400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:40396200-40397600	Genic enhancers	Right Ventricle	heart
20	chr2:40396400-40400000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:40396400-40400200	Weak transcription	Osteobl	bone
22	chr2:40396400-40405400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:40396600-40400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40396600-40401800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:40396800-40397400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:40396800-40400400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:40397000-40397800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:40397000-40399200	Strong transcription	Left Ventricle	heart
29	chr2:40397000-40405000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:40397200-40398200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:40397200-40399600	Strong transcription	HSMM	muscle
32	chr2:40397200-40400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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