Variant report

Variant	rs6544322
Chromosome Location	chr2:40579948-40579949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13430329	1.00[MEX][hapmap]
rs72798624	1.00[AFR][1000 genomes];0.98[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	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	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
4	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
5	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
6	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
7	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv516330	chr2:40576347-40579948	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:40574600-40580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40574600-40580000	Weak transcription	Left Ventricle	heart
5	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
7	chr2:40576800-40587600	Weak transcription	NH-A	brain
8	chr2:40578200-40581200	Enhancers	HSMM	muscle
9	chr2:40578400-40580600	Enhancers	NHDF-Ad	bronchial
10	chr2:40578400-40581000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40578400-40582000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:40578400-40583400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:40578600-40580600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40578600-40580600	Enhancers	Osteobl	bone
15	chr2:40578600-40583000	Enhancers	Fetal Heart	heart
16	chr2:40578800-40580600	Enhancers	HMEC	breast
17	chr2:40578800-40580600	Enhancers	HSMMtube	muscle
18	chr2:40578800-40581000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:40578800-40581200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:40578800-40581600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:40579000-40580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:40579000-40580400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:40579200-40580000	Enhancers	NHEK	skin
24	chr2:40579200-40580200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:40579200-40580200	Enhancers	NHLF	lung
26	chr2:40579400-40580400	Enhancers	HUVEC	blood vessel
27	chr2:40579400-40582400	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:40579600-40580000	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:40579600-40586800	Enhancers	Colon Smooth Muscle	Colon
30	chr2:40579800-40580000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:40579800-40580200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:40579800-40580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:40579800-40580200	Enhancers	Right Ventricle	heart
34	chr2:40579800-40580200	Flanking Active TSS	Hela-S3	cervix
35	chr2:40579800-40581000	Enhancers	Right Atrium	heart
36	chr2:40579800-40581200	Enhancers	Adipose Nuclei	Adipose
37	chr2:40579800-40581800	Enhancers	Fetal Stomach	stomach
38	chr2:40579800-40582000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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