Variant report

Variant	rs2301342
Chromosome Location	chr2:40680601-40680602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12468667	0.92[ASN][1000 genomes]
rs12619139	0.92[EUR][1000 genomes]
rs17026094	0.82[EUR][1000 genomes]
rs17026097	1.00[EUR][1000 genomes]
rs4952627	0.92[ASN][1000 genomes]
rs72613873	0.91[ASN][1000 genomes]
rs72613875	1.00[EUR][1000 genomes]
rs72613876	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40679800-40680800	Enhancers	Right Atrium	heart
2	chr2:40679800-40682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:40679800-40682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:40679800-40685600	Weak transcription	Right Ventricle	heart
5	chr2:40680000-40680800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:40680000-40681000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr2:40680000-40681000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr2:40680000-40681000	Enhancers	Left Ventricle	heart
9	chr2:40680000-40681400	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:40680000-40682600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40680000-40682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40680000-40683800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:40680000-40684200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40680000-40684200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:40680000-40684400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:40680000-40684400	Weak transcription	HSMM	muscle
17	chr2:40680000-40684600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:40680000-40685600	Weak transcription	Fetal Kidney	kidney
19	chr2:40680200-40681000	Enhancers	Brain Germinal Matrix	brain
20	chr2:40680200-40681000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:40680200-40681400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:40680200-40681400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:40680200-40682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:40680200-40682600	Weak transcription	NHDF-Ad	bronchial
25	chr2:40680200-40682800	Weak transcription	HMEC	breast
26	chr2:40680200-40682800	Weak transcription	NHLF	lung
27	chr2:40680200-40684200	Weak transcription	Osteobl	bone
28	chr2:40680200-40685200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:40680400-40680800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:40680400-40680800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:40680400-40681000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:40680600-40680800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr2:40680600-40680800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:40680600-40681000	Enhancers	Fetal Heart	heart
35	chr2:40680600-40682400	Weak transcription	Fetal Brain Male	brain

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