Variant report

Variant	rs1374708
Chromosome Location	chr2:205316761-205316762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205314742..205317390-chr2:205323844..205326602,2	K562	blood:
2	chr2:205314792..205317401-chr2:205318306..205319999,2	K562	blood:
3	chr2:205269954..205272543-chr2:205315221..205317326,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10084416	0.98[ASN][1000 genomes]
rs10490267	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs10932063	0.89[ASN][1000 genomes]
rs1156249	0.98[ASN][1000 genomes]
rs11690070	0.89[ASN][1000 genomes]
rs12472876	0.95[ASN][1000 genomes]
rs12616166	0.92[ASN][1000 genomes]
rs13010221	0.89[ASN][1000 genomes]
rs13024043	0.91[ASN][1000 genomes]
rs1374709	0.89[ASN][1000 genomes]
rs1447488	0.94[ASN][1000 genomes]
rs1447490	0.95[ASN][1000 genomes]
rs1447493	0.95[ASN][1000 genomes]
rs1447495	0.94[ASN][1000 genomes]
rs1550909	1.00[JPT][hapmap]
rs17637637	0.95[ASN][1000 genomes]
rs34157021	0.89[ASN][1000 genomes]
rs34368384	0.94[ASN][1000 genomes]
rs35071164	0.81[ASN][1000 genomes]
rs4675457	0.91[ASN][1000 genomes]
rs71427747	0.91[ASN][1000 genomes]
rs7602656	0.94[ASN][1000 genomes]
rs921163	0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs959032	0.95[ASN][1000 genomes]
rs959033	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1374708	ALS2CR8	cis	parietal	SCAN
rs1374708	PLEKHM3	cis	parietal	SCAN
rs1374708	PLEKHM3	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205313600-205316800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:205313800-205317000	Enhancers	Colon Smooth Muscle	Colon
3	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:205314200-205316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:205315600-205317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:205315600-205318400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:205315600-205318400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:205315600-205318800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:205316000-205318400	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:205316200-205317600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:205316400-205316800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:205316400-205316800	Enhancers	K562	blood
14	chr2:205316400-205316800	Enhancers	NHLF	lung
15	chr2:205316400-205317000	Enhancers	Fetal Lung	lung
16	chr2:205316400-205317000	Enhancers	HUVEC	blood vessel
17	chr2:205316400-205317200	Enhancers	A549	lung
18	chr2:205316400-205318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:205316400-205318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:205316400-205318600	Weak transcription	Lung	lung
21	chr2:205316600-205316800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:205316600-205316800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:205316600-205316800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:205316600-205316800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:205316600-205316800	Enhancers	HSMMtube	muscle
26	chr2:205316600-205316800	Enhancers	NH-A	brain
27	chr2:205316600-205316800	Enhancers	NHDF-Ad	bronchial
28	chr2:205316600-205317200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:205316600-205317200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:205316600-205317200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:205316600-205317200	Enhancers	HSMM	muscle
32	chr2:205316600-205317800	Enhancers	Fetal Intestine Large	intestine
33	chr2:205316600-205318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:205316600-205318400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:205316600-205320200	Enhancers	Fetal Brain Male	brain
36	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine

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