Variant report

Variant	rs134596
Chromosome Location	chr22:29470115-29470116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
2	chr22:29296014..29298873-chr22:29469784..29471423,2	K562	blood:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12329960	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134560	0.85[MEX][hapmap]
rs134564	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134577	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs134588	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134592	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134598	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134605	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134607	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134608	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134609	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134622	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134630	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs134631	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134636	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134637	0.86[GIH][hapmap];0.81[TSI][hapmap]
rs134641	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134644	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134660	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134670	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134672	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs20037	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs4347951	0.81[EUR][1000 genomes]
rs5752864	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713861	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7292708	0.90[EUR][1000 genomes]
rs783	0.81[TSI][hapmap]

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs134596	MORC2	cis	cerebellum	SCAN
rs134596	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134596	TBC1D10A	cis	cerebellum	SCAN
rs134596	EMID1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
2	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr22:29467200-29471200	Active TSS	Ovary	ovary
7	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
8	chr22:29467400-29470200	Active TSS	Right Atrium	heart
9	chr22:29467600-29470400	Active TSS	HSMM	muscle
10	chr22:29467800-29470200	Active TSS	Brain Substantia Nigra	brain
11	chr22:29467800-29470400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:29468000-29470600	Flanking Active TSS	Colonic Mucosa	Colon
13	chr22:29468600-29470200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr22:29468600-29470200	Active TSS	Brain Angular Gyrus	brain
15	chr22:29468600-29470200	Active TSS	Brain Anterior Caudate	brain
16	chr22:29468600-29470200	Active TSS	Left Ventricle	heart
17	chr22:29468600-29470600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:29468600-29470600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr22:29468600-29471400	Active TSS	Fetal Kidney	kidney
20	chr22:29468800-29470200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr22:29468800-29470200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29468800-29470200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr22:29468800-29470200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr22:29468800-29470200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:29468800-29470200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:29468800-29470200	Active TSS	Colon Smooth Muscle	Colon
27	chr22:29468800-29470200	Active TSS	Esophagus	oesophagus
28	chr22:29468800-29470200	Active TSS	Fetal Intestine Large	intestine
29	chr22:29468800-29470200	Active TSS	Fetal Intestine Small	intestine
30	chr22:29468800-29470200	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr22:29468800-29470200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr22:29468800-29470200	Active TSS	NHEK	skin
33	chr22:29468800-29470400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29468800-29470400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:29468800-29470400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:29468800-29470400	Active TSS	Lung	lung
37	chr22:29468800-29470400	Active TSS	NHDF-Ad	bronchial
38	chr22:29468800-29470800	Active TSS	Rectal Smooth Muscle	rectum
39	chr22:29468800-29471200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr22:29469000-29470200	Active TSS	Gastric	stomach
41	chr22:29469000-29470400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:29469000-29470600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:29469200-29470200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr22:29469200-29470200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr22:29469200-29470200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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