Variant report

Variant	rs17025849
Chromosome Location	chr2:40571325-40571326
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10192833	1.00[CHB][hapmap]
rs10490050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17025867	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73926616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560000-40571400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40561200-40572800	Weak transcription	Left Ventricle	heart
6	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40567200-40572400	Enhancers	Fetal Heart	heart
8	chr2:40568200-40571800	Weak transcription	Right Ventricle	heart
9	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:40568800-40573200	Weak transcription	Dnd41	blood
11	chr2:40569400-40571400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40569800-40571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:40569800-40573600	Enhancers	Osteobl	bone
14	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
17	chr2:40570600-40571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:40570600-40572200	Enhancers	HSMM	muscle
19	chr2:40570600-40572400	Enhancers	HSMMtube	muscle
20	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:40571000-40571400	Enhancers	Aorta	Aorta
22	chr2:40571000-40571400	Enhancers	NHEK	skin
23	chr2:40571000-40571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:40571000-40571600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:40571000-40571600	Enhancers	NH-A	brain
26	chr2:40571000-40571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:40571000-40572800	Enhancers	Colon Smooth Muscle	Colon
28	chr2:40571000-40573400	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
30	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:40571200-40571400	Enhancers	Adipose Nuclei	Adipose
32	chr2:40571200-40571600	Enhancers	HMEC	breast
33	chr2:40571200-40572400	Enhancers	NHLF	lung
34	chr2:40571200-40572800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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