Variant report

Variant	rs2041076
Chromosome Location	chr22:31435945-31435946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31421824..31424630-chr22:31434408..31437079,3	K562	blood:
2	chr22:31430301..31432681-chr22:31434506..31436861,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1017066	0.83[EUR][1000 genomes]
rs1034845	0.83[EUR][1000 genomes]
rs10854601	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs11089481	0.90[MEX][hapmap];0.86[TSI][hapmap]
rs12167141	0.86[TSI][hapmap]
rs2019171	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2019182	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2072132	0.82[CEU][hapmap]
rs2240175	0.87[CEU][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs2240176	0.85[MEX][hapmap];0.92[TSI][hapmap]
rs2240177	0.87[CEU][hapmap];0.81[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs2240179	0.87[CEU][hapmap]
rs2240180	0.87[CEU][hapmap];0.81[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs2240183	0.87[CEU][hapmap]
rs3747151	0.87[CEU][hapmap];0.81[CHB][hapmap];0.90[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs3788426	0.87[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs3804085	0.87[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs3827330	0.89[MEX][hapmap];0.92[TSI][hapmap]
rs3948685	0.82[CEU][hapmap]
rs4820916	0.87[CEU][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs4820921	0.85[MEX][hapmap];0.92[TSI][hapmap]
rs4820925	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4820926	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749185	0.82[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs5753394	0.87[CEU][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]
rs5753407	0.87[CEU][hapmap]
rs5753408	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs5753410	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs5997802	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs5997830	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs5997838	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs5997843	0.86[EUR][1000 genomes]
rs5997846	0.81[CHB][hapmap]
rs6518726	0.86[EUR][1000 genomes]
rs6518729	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7284767	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs7289831	0.81[EUR][1000 genomes]
rs7291361	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs737924	0.87[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs737927	0.82[CEU][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap]
rs739896	0.87[CEU][hapmap]
rs8004	0.87[CEU][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap]
rs8135974	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs8140448	0.86[TSI][hapmap]
rs9609183	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9609185	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9609188	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609193	0.85[EUR][1000 genomes];0.81[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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2041076	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2041076	MORC2	cis	multi-tissue	Pritchard
rs2041076	C22orf27	cis	cerebellum	SCAN
rs2041076	MORC2-AS1	cis	Thyroid	GTEx
rs2041076	MORC2	cis	parietal	SCAN
rs2041076	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs2041076	MORC2-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31431800-31436000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
3	chr22:31432600-31436800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31433000-31440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:31433000-31440200	Weak transcription	Right Atrium	heart
6	chr22:31433200-31436600	Enhancers	Fetal Muscle Leg	muscle
7	chr22:31433400-31436000	Enhancers	Adipose Nuclei	Adipose
8	chr22:31433400-31436200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:31433400-31440200	Weak transcription	Lung	lung
10	chr22:31433600-31436000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:31433600-31436600	Enhancers	Rectal Smooth Muscle	rectum
12	chr22:31433600-31437000	Enhancers	Colon Smooth Muscle	Colon
13	chr22:31433600-31440200	Weak transcription	Fetal Intestine Large	intestine
14	chr22:31433600-31441400	Weak transcription	Spleen	Spleen
15	chr22:31433600-31442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:31433600-31442600	Weak transcription	HSMM	muscle
17	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:31434200-31436000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:31434200-31436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:31434200-31436600	Enhancers	Ovary	ovary
21	chr22:31434400-31436000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:31434400-31436000	Enhancers	Fetal Lung	lung
23	chr22:31434400-31436000	Enhancers	Osteobl	bone
24	chr22:31434600-31436000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:31434600-31440200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:31434800-31436200	Enhancers	NHLF	lung
27	chr22:31435000-31436000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:31435000-31436000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:31435000-31436000	Enhancers	Colonic Mucosa	Colon
30	chr22:31435000-31436000	Enhancers	Placenta	Placenta
31	chr22:31435200-31436000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:31435200-31436000	Enhancers	Brain Substantia Nigra	brain
33	chr22:31435200-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:31435400-31436000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:31435600-31436000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr22:31435600-31436000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr22:31435600-31436000	Bivalent Enhancer	Small Intestine	intestine
38	chr22:31435600-31436000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr22:31435600-31436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr22:31435800-31436000	Enhancers	Left Ventricle	heart
41	chr22:31435800-31436000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:31435800-31436200	Enhancers	NHDF-Ad	bronchial
43	chr22:31435800-31437800	Enhancers	HepG2	liver
44	chr22:31435800-31440200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31435800-31440400	Weak transcription	Brain Inferior Temporal Lobe	brain

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