Variant report

Variant	rs760908
Chromosome Location	chr22:32057501-32057502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32053085-32061138..22:32150875-32154575	GM12878	blood:
2	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
3	22:32053085-32061138..22:32284948-32287956	Hela-S3	cervix:
4	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:
5	22:32053085-32061138..22:32347255-32351014	GM12878	blood:
6	chr22:32057033..32060064-chr22:32338919..32341534,3	MCF-7	breast:
7	chr22:32056284..32058646-chr22:32144248..32146954,2	MCF-7	breast:
8	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
9	22:31936958-31958600..22:32053085-32061138	Hela-S3	cervix:
10	chr22:32049112..32050830-chr22:32055861..32057960,2	MCF-7	breast:
11	chr22:32022870..32025746-chr22:32055333..32057632,2	K562	blood:
12	chr22:32056716..32060506-chr22:32341976..32344669,4	MCF-7	breast:
13	chr22:32055976..32060358-chr22:32339389..32343294,9	K562	blood:
14	chr22:32026032..32028190-chr22:32055546..32059195,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10154390	0.81[AFR][1000 genomes]
rs12165432	0.90[ASN][1000 genomes]
rs12171042	0.83[ASW][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs131225	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs131231	0.80[MEX][hapmap]
rs131233	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[ASN][1000 genomes]
rs131244	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs131245	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs131250	0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.87[ASN][1000 genomes]
rs131253	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs140078	0.89[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs140081	0.89[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2006771	0.81[MKK][hapmap];0.86[YRI][hapmap]
rs2108108	0.81[CHB][hapmap];0.81[GIH][hapmap];0.92[MKK][hapmap]
rs28528942	0.80[ASN][1000 genomes]
rs3804087	0.89[ASW][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs5753683	0.88[MEX][hapmap]
rs5753691	0.87[MEX][hapmap]
rs5753734	0.83[ASW][hapmap]
rs5994419	0.86[AFR][1000 genomes]
rs5994420	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5994427	0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs5994431	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs5998069	0.84[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs5998072	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5998074	0.80[MEX][hapmap]
rs5998086	0.89[ASW][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs5998136	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs7287937	0.85[MKK][hapmap];0.89[YRI][hapmap]
rs7289075	0.85[YRI][hapmap]
rs7291918	0.83[ASW][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap]
rs761746	0.92[MKK][hapmap];0.89[YRI][hapmap]
rs8141214	0.81[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.90[MKK][hapmap]
rs9621327	0.86[ASN][1000 genomes]
rs9956	0.82[ASW][hapmap];0.90[MKK][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs760908	ZNRF3	cis	parietal	SCAN
rs760908	SEZ6L	cis	cerebellum	SCAN
rs760908	TCN2	cis	cerebellum	SCAN
rs760908	UQCR10	cis	parietal	SCAN
rs760908	TTC28AS	cis	cerebellum	SCAN
rs760908	FBXO7	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32056400-32057600	Enhancers	Spleen	Spleen
2	chr22:32056600-32058400	Active TSS	GM12878-XiMat	blood
3	chr22:32056600-32058800	Active TSS	NHLF	lung
4	chr22:32056800-32058600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:32056800-32058600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:32056800-32058600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:32056800-32058600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:32056800-32058600	Active TSS	HMEC	breast
9	chr22:32056800-32058600	Active TSS	NHEK	skin
10	chr22:32056800-32058800	Active TSS	Esophagus	oesophagus
11	chr22:32056800-32058800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr22:32056800-32058800	Active TSS	HSMM	muscle
13	chr22:32056800-32059000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:32057000-32057600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:32057000-32057600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:32057000-32057600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:32057000-32057600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr22:32057000-32057600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:32057000-32057600	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr22:32057000-32057600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr22:32057000-32057600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr22:32057000-32057600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr22:32057000-32057600	Flanking Active TSS	Fetal Brain Male	brain
24	chr22:32057000-32057600	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr22:32057000-32057600	Flanking Active TSS	Psoas Muscle	Psoas
26	chr22:32057000-32057600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr22:32057000-32057600	Flanking Active TSS	Right Ventricle	heart
28	chr22:32057000-32057600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr22:32057000-32057600	Flanking Active TSS	HUVEC	blood vessel
30	chr22:32057000-32057800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr22:32057000-32057800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr22:32057000-32057800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr22:32057000-32057800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr22:32057000-32057800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:32057000-32057800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:32057000-32057800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr22:32057000-32057800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr22:32057000-32057800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr22:32057000-32057800	Flanking Active TSS	Fetal Lung	lung
40	chr22:32057000-32057800	Flanking Active TSS	Placenta	Placenta
41	chr22:32057000-32057800	Flanking Active TSS	Dnd41	blood
42	chr22:32057000-32057800	Flanking Active TSS	Osteobl	bone
43	chr22:32057000-32058000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr22:32057000-32058000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr22:32057000-32058000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:32057000-32058000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:32057000-32058000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr22:32057000-32058000	Flanking Active TSS	Liver	Liver
49	chr22:32057000-32058000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr22:32057000-32058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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