Variant report

Variant	rs9613782
Chromosome Location	chr22:29434105-29434106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29433708..29435584-chr22:29637138..29639967,2	K562	blood:
2	chr22:29427122..29429639-chr22:29432202..29434888,3	K562	blood:
3	chr22:29186382..29188541-chr22:29433389..29436564,3	MCF-7	breast:
4	chr22:29280249..29282213-chr22:29433685..29436671,2	MCF-7	breast:
5	chr22:29432585..29435397-chr22:29443642..29445471,2	K562	blood:
6	chr22:29433370..29436929-chr22:29445281..29448151,3	K562	blood:
7	chr22:29249117..29251887-chr22:29432294..29434914,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10483152	1.00[YRI][hapmap]
rs11704898	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13055470	1.00[YRI][hapmap]
rs17440734	0.87[CHD][hapmap]
rs17518058	1.00[YRI][hapmap]
rs1977047	0.81[AMR][1000 genomes]
rs2064084	0.87[CHD][hapmap]
rs2103544	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2347789	0.81[AMR][1000 genomes]
rs2347790	0.82[CEU][hapmap];0.87[CHD][hapmap];0.83[TSI][hapmap]
rs2881726	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4140643	0.82[CEU][hapmap]
rs4333023	0.81[AMR][1000 genomes]
rs4820794	0.82[CEU][hapmap]
rs6005955	0.82[CEU][hapmap]
rs6005956	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs6005958	0.82[CEU][hapmap]
rs6005967	0.84[CHD][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs66905312	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs727892	0.81[CHD][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs7287517	0.83[AMR][1000 genomes]
rs7290686	1.00[YRI][hapmap]
rs738246	0.80[MEX][hapmap];0.81[TSI][hapmap]
rs8137254	0.82[CEU][hapmap]
rs874915	0.81[AMR][1000 genomes]
rs9608720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613768	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9613776	0.82[CEU][hapmap]
rs9613777	0.82[CEU][hapmap];0.87[CHD][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs9613778	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613780	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9613785	0.83[MEX][hapmap];0.83[TSI][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9613782	SEZ6L	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29436600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
4	chr22:29428000-29441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:29428200-29434600	Genic enhancers	HepG2	liver
6	chr22:29428200-29436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29428400-29436400	Weak transcription	NHEK	skin
8	chr22:29428400-29436600	Weak transcription	K562	blood
9	chr22:29428600-29440400	Weak transcription	Esophagus	oesophagus
10	chr22:29428600-29440800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:29428800-29436400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:29428800-29436400	Weak transcription	Left Ventricle	heart
13	chr22:29428800-29436600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29428800-29436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:29429000-29435000	Weak transcription	Fetal Muscle Leg	muscle
17	chr22:29429000-29436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:29429000-29436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29429000-29436400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:29429000-29436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:29429000-29436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:29429000-29436400	Weak transcription	Brain Anterior Caudate	brain
23	chr22:29429000-29436400	Weak transcription	Fetal Lung	lung
24	chr22:29429000-29436400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:29429000-29436400	Weak transcription	HSMMtube	muscle
26	chr22:29429000-29436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29429000-29436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:29429000-29436600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:29429000-29436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:29429000-29436600	Weak transcription	Fetal Kidney	kidney
31	chr22:29429000-29436600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:29429000-29436800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:29429000-29437000	Weak transcription	Fetal Heart	heart
34	chr22:29429000-29440600	Weak transcription	Colonic Mucosa	Colon
35	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
36	chr22:29429600-29435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29429800-29439400	Weak transcription	Aorta	Aorta
38	chr22:29430600-29435000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:29432000-29438600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:29432200-29434200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr22:29432600-29434800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr22:29433000-29434200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:29433200-29434200	Enhancers	Stomach Mucosa	stomach
44	chr22:29433200-29435400	Enhancers	Duodenum Mucosa	Duodenum
45	chr22:29433400-29435400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr22:29433600-29434400	Enhancers	Gastric	stomach
47	chr22:29433600-29435200	Weak transcription	A549	lung
48	chr22:29433600-29435600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr22:29433800-29436600	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:29433800-29440600	Weak transcription	Lung	lung

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