Variant report

Variant	rs700036
Chromosome Location	chr1:220876039-220876040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12030411	0.91[ASN][1000 genomes]
rs17008307	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2960571	0.89[ASN][1000 genomes]
rs364360	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs384264	0.92[ASN][1000 genomes]
rs405682	0.85[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs409286	0.92[ASN][1000 genomes]
rs416768	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs774128	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs774130	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs700036	MOSC1	cis	Lymphoblastoid	GTEx
rs700036	MOSC2	cis	multi-tissue	Pritchard
rs700036	MOSC1	cis	multi-tissue	Pritchard
rs700036	C1orf115	cis	Lymphoblastoid	GTEx
rs700036	C1orf115	cis	multi-tissue	Pritchard
rs700036	MOSC2	cis	Lymphoblastoid	GTEx
rs700036	FLJ14146	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220879200	Weak transcription	Ovary	ovary
2	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:220871400-220876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:220871600-220878400	Weak transcription	Gastric	stomach
6	chr1:220871800-220876600	Weak transcription	Spleen	Spleen
7	chr1:220871800-220878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:220872200-220878800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:220873200-220877200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:220873400-220876600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:220873400-220878800	Weak transcription	Pancreas	Pancrea
12	chr1:220873600-220878200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:220873600-220879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:220873800-220878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:220873800-220878400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:220873800-220880000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:220874200-220876200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:220874200-220876200	Weak transcription	Right Ventricle	heart
19	chr1:220874400-220876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:220874400-220876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:220874400-220876200	Weak transcription	Fetal Heart	heart
22	chr1:220874400-220876400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:220874400-220879200	Weak transcription	Placenta	Placenta
24	chr1:220874600-220876200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:220874600-220876400	Weak transcription	HepG2	liver
26	chr1:220874800-220876400	Weak transcription	Right Atrium	heart
27	chr1:220875200-220876800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:220875200-220876800	Enhancers	GM12878-XiMat	blood
29	chr1:220875200-220876800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:220875400-220876400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:220875400-220877200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:220875600-220876800	Enhancers	Adipose Nuclei	Adipose
33	chr1:220875600-220876800	Enhancers	Lung	lung
34	chr1:220875800-220876200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:220876000-220876600	Enhancers	Liver	Liver
36	chr1:220876000-220877800	Enhancers	Left Ventricle	heart

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