Variant report

Variant	rs2301343
Chromosome Location	chr2:40680149-40680150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12998011	0.83[ASN][1000 genomes]
rs6544340	0.92[CHB][hapmap];0.83[CHD][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2301343	DYNC2LI1	cis	parietal	SCAN
rs2301343	KLHL21	trans	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40676400-40680200	Active TSS	NHLF	lung
2	chr2:40676800-40680200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:40677000-40680200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:40679600-40680200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr2:40679600-40680200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:40679600-40680200	Flanking Active TSS	Dnd41	blood
7	chr2:40679600-40680200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:40679600-40680600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr2:40679800-40680200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:40679800-40680200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr2:40679800-40680200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:40679800-40680200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:40679800-40680200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:40679800-40680200	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr2:40679800-40680200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:40679800-40680400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:40679800-40680400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:40679800-40680400	Transcr. at gene 5' and 3'	Fetal Heart	heart
19	chr2:40679800-40680800	Enhancers	Right Atrium	heart
20	chr2:40679800-40682800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:40679800-40682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:40679800-40685600	Weak transcription	Right Ventricle	heart
23	chr2:40680000-40680200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
24	chr2:40680000-40680200	Active TSS	Primary hematopoietic stem cells	blood
25	chr2:40680000-40680200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:40680000-40680200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr2:40680000-40680200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:40680000-40680200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:40680000-40680200	Bivalent Enhancer	Brain Angular Gyrus	brain
30	chr2:40680000-40680200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:40680000-40680200	Flanking Active TSS	Fetal Brain Female	brain
32	chr2:40680000-40680200	Enhancers	HMEC	breast
33	chr2:40680000-40680200	Enhancers	NHDF-Ad	bronchial
34	chr2:40680000-40680200	Enhancers	Osteobl	bone
35	chr2:40680000-40680400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr2:40680000-40680600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr2:40680000-40680600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr2:40680000-40680600	Enhancers	Fetal Brain Male	brain
39	chr2:40680000-40680800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:40680000-40681000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr2:40680000-40681000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr2:40680000-40681000	Enhancers	Left Ventricle	heart
43	chr2:40680000-40681400	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:40680000-40682600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:40680000-40682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40680000-40683800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:40680000-40684200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:40680000-40684200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:40680000-40684400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:40680000-40684400	Weak transcription	HSMM	muscle

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