Variant report

Variant	rs3738175
Chromosome Location	chr1:220873016-220873017
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220869909..220871487-chr1:220872006..220873594,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11553965	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11553966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008339	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088044	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2101771	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2172704	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58055537	0.91[EUR][1000 genomes]
rs6673650	0.91[EUR][1000 genomes]
rs72472365	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73107682	0.94[EUR][1000 genomes]
rs7533858	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3738175	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs3738175	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220873200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:220865200-220874200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:220865200-220879200	Weak transcription	Ovary	ovary
4	chr1:220865400-220873200	Weak transcription	Fetal Brain Female	brain
5	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
7	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:220868400-220873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
13	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:220870600-220873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:220871200-220873600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:220871400-220873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:220871400-220874000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:220871400-220876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:220871600-220873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:220871600-220873200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:220871600-220873200	Weak transcription	Pancreas	Pancrea
24	chr1:220871600-220873400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:220871600-220873400	Weak transcription	Left Ventricle	heart
26	chr1:220871600-220878400	Weak transcription	Gastric	stomach
27	chr1:220871800-220873400	Weak transcription	Fetal Lung	lung
28	chr1:220871800-220876600	Weak transcription	Spleen	Spleen
29	chr1:220871800-220878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:220872000-220873200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:220872000-220873400	Weak transcription	Right Ventricle	heart
32	chr1:220872000-220873600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:220872000-220873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:220872000-220874000	Weak transcription	Fetal Stomach	stomach
35	chr1:220872000-220874400	Enhancers	Placenta	Placenta
36	chr1:220872000-220874600	Enhancers	HepG2	liver
37	chr1:220872000-220875600	Weak transcription	Lung	lung
38	chr1:220872200-220878800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:220872400-220874600	Enhancers	Colon Smooth Muscle	Colon
40	chr1:220872400-220875600	Enhancers	Fetal Brain Male	brain
41	chr1:220872600-220873400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:220872600-220875200	Enhancers	Adipose Nuclei	Adipose
43	chr1:220872800-220876000	Weak transcription	Liver	Liver
44	chr1:220873000-220873400	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:220873000-220873600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:220873000-220874800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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