Variant report

Variant	rs1034845
Chromosome Location	chr22:31435162-31435163
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: 16 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1017066	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089481	0.90[CEU][hapmap]
rs12167141	0.90[CEU][hapmap]
rs2041076	0.83[EUR][1000 genomes]
rs2240176	1.00[CEU][hapmap]
rs3827330	1.00[CEU][hapmap]
rs4820921	1.00[CEU][hapmap]
rs5753373	0.91[CEU][hapmap]
rs5997802	1.00[CEU][hapmap]
rs5997837	0.82[EUR][1000 genomes]
rs5997842	0.85[EUR][1000 genomes]
rs7284474	0.81[EUR][1000 genomes]
rs8139350	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs8140448	0.95[CEU][hapmap]

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
rs1034845	MORC2-AS1	cis	Nerve Tibial	GTEx
rs1034845	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs1034845	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs1034845	MORC2-AS1	cis	Whole Blood	GTEx
rs1034845	MORC2-AS1	cis	Esophagus Muscularis	GTEx
rs1034845	MORC2-AS1	cis	Thyroid	GTEx
rs1034845	MORC2-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:47 , 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	chr22:31433200-31435200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:31433200-31436600	Enhancers	Fetal Muscle Leg	muscle
8	chr22:31433400-31435200	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:31433400-31435800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr22:31433400-31436000	Enhancers	Adipose Nuclei	Adipose
11	chr22:31433400-31436200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:31433400-31440200	Weak transcription	Lung	lung
13	chr22:31433600-31435200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:31433600-31435400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31433600-31435600	Weak transcription	Aorta	Aorta
16	chr22:31433600-31435600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:31433600-31435800	Weak transcription	Left Ventricle	heart
18	chr22:31433600-31436000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31433600-31436600	Enhancers	Rectal Smooth Muscle	rectum
20	chr22:31433600-31437000	Enhancers	Colon Smooth Muscle	Colon
21	chr22:31433600-31440200	Weak transcription	Fetal Intestine Large	intestine
22	chr22:31433600-31441400	Weak transcription	Spleen	Spleen
23	chr22:31433600-31442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:31433600-31442600	Weak transcription	HSMM	muscle
25	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:31434200-31435200	Enhancers	HepG2	liver
27	chr22:31434200-31436000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:31434200-31436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:31434200-31436600	Enhancers	Ovary	ovary
30	chr22:31434400-31436000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:31434400-31436000	Enhancers	Fetal Lung	lung
32	chr22:31434400-31436000	Enhancers	Osteobl	bone
33	chr22:31434600-31436000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:31434600-31440200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:31434800-31435200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:31434800-31435800	Enhancers	Fetal Intestine Small	intestine
37	chr22:31434800-31436200	Enhancers	NHLF	lung
38	chr22:31435000-31435200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr22:31435000-31435200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr22:31435000-31435200	Enhancers	HSMMtube	muscle
41	chr22:31435000-31435200	Enhancers	NHDF-Ad	bronchial
42	chr22:31435000-31435400	Enhancers	Fetal Kidney	kidney
43	chr22:31435000-31435800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:31435000-31436000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:31435000-31436000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:31435000-31436000	Enhancers	Colonic Mucosa	Colon
47	chr22:31435000-31436000	Enhancers	Placenta	Placenta

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