Variant report

Variant	rs8135417
Chromosome Location	chr22:31559255-31559256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1034589	0.90[MEX][hapmap]
rs11089493	0.91[JPT][hapmap]
rs13158	0.90[MEX][hapmap]
rs17820958	0.86[JPT][hapmap]
rs1858821	0.90[MEX][hapmap]
rs2057951	0.86[JPT][hapmap]
rs2073856	0.81[JPT][hapmap]
rs2073857	0.90[MEX][hapmap]
rs2073859	0.91[JPT][hapmap]
rs2073860	0.91[JPT][hapmap]
rs2073861	0.91[JPT][hapmap]
rs2074734	0.86[JPT][hapmap]
rs2106294	0.90[MEX][hapmap]
rs2240424	0.86[JPT][hapmap]
rs2240427	0.91[JPT][hapmap]
rs2267168	0.90[JPT][hapmap]
rs2283882	0.86[JPT][hapmap]
rs2413035	0.90[MEX][hapmap]
rs2899161	0.91[JPT][hapmap]
rs3761430	0.81[JPT][hapmap]
rs4141404	0.90[MEX][hapmap]
rs4561750	0.93[LWK][hapmap];1.00[YRI][hapmap]
rs4603880	0.85[MEX][hapmap]
rs4820043	0.90[MEX][hapmap]
rs4820948	0.93[EUR][1000 genomes]
rs5749222	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749224	0.81[AMR][1000 genomes]
rs5749225	0.91[JPT][hapmap]
rs5749229	0.90[MEX][hapmap]
rs5749232	1.00[YRI][hapmap]
rs5749236	0.91[JPT][hapmap]
rs5749240	0.91[JPT][hapmap]
rs5749252	0.91[JPT][hapmap]
rs5749255	0.91[JPT][hapmap]
rs5753485	0.91[JPT][hapmap]
rs5753486	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753488	1.00[YRI][hapmap]
rs5753494	0.91[JPT][hapmap]
rs5753495	0.80[JPT][hapmap]
rs5753511	0.91[JPT][hapmap]
rs5753516	0.91[JPT][hapmap]
rs5753519	0.90[JPT][hapmap]
rs5753525	0.90[JPT][hapmap]
rs5753526	0.91[JPT][hapmap]
rs5753527	0.91[JPT][hapmap]
rs5753535	0.91[JPT][hapmap]
rs5753566	0.91[JPT][hapmap]
rs5753572	0.91[JPT][hapmap]
rs5753574	0.91[JPT][hapmap]
rs5997893	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5997896	0.93[EUR][1000 genomes]
rs5997897	0.93[EUR][1000 genomes]
rs5997921	0.91[JPT][hapmap]
rs5997959	0.86[JPT][hapmap]
rs6518737	0.88[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs713619	0.90[JPT][hapmap]
rs714909	0.85[MEX][hapmap]
rs7286926	0.91[JPT][hapmap]
rs7292620	0.91[JPT][hapmap]
rs737684	0.82[CEU][hapmap]
rs737887	0.85[MEX][hapmap]
rs737888	0.90[MEX][hapmap]
rs874356	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878718	0.95[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs886074	1.00[YRI][hapmap]
rs9619178	0.91[JPT][hapmap]
rs9621212	0.91[JPT][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8135417	MN1	cis	parietal	SCAN
rs8135417	PISD	cis	cerebellum	SCAN
rs8135417	CRYBB1	cis	cerebellum	SCAN
rs8135417	SFI1	cis	cerebellum	SCAN
rs8135417	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31555600-31559400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
5	chr22:31557200-31561400	Weak transcription	Fetal Thymus	thymus
6	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:31557400-31559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31557400-31559600	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr22:31557400-31561400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31557400-31561600	Weak transcription	Lung	lung
13	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
15	chr22:31557400-31569200	Weak transcription	A549	lung
16	chr22:31557400-31575000	Weak transcription	Gastric	stomach
17	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:31557600-31559400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:31557600-31559600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:31557600-31561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:31557600-31561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart
25	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
26	chr22:31557600-31578600	Weak transcription	K562	blood
27	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:31557800-31559400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:31557800-31559400	Enhancers	Adipose Nuclei	Adipose
30	chr22:31557800-31560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31557800-31561400	Weak transcription	Fetal Brain Female	brain
32	chr22:31557800-31561400	Weak transcription	GM12878-XiMat	blood
33	chr22:31557800-31564000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:31557800-31564200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
36	chr22:31557800-31569400	Weak transcription	Ovary	ovary
37	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:31558000-31560400	Weak transcription	Fetal Intestine Large	intestine
40	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:31558200-31559400	Enhancers	Osteobl	bone
42	chr22:31558200-31560400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:31558200-31560400	Weak transcription	Fetal Lung	lung
44	chr22:31558200-31560600	Weak transcription	Primary T cells from cord blood	blood
45	chr22:31558200-31560600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr22:31558200-31561000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr22:31558200-31561200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr22:31558200-31563600	Weak transcription	Right Atrium	heart
49	chr22:31558200-31564200	Weak transcription	Brain Anterior Caudate	brain
50	chr22:31558200-31565000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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