Variant report

Variant	rs1013703
Chromosome Location	chr22:32144879-32144880
allele	A/G
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32144806..32146772-chr22:32152681..32154290,2	MCF-7	breast:
2	chr22:32144199..32146034-chr22:32335578..32338194,2	K562	blood:
3	22:32137554-32145079..22:32338420-32342898	Hela-S3	cervix:
4	22:32137554-32145079..22:32860159-32865649	Hela-S3	cervix:
5	22:32012966-32043914..22:32137554-32145079	Hela-S3	cervix:
6	chr22:32143401..32146678-chr22:32340513..32343465,3	K562	blood:
7	22:32137554-32145079..22:33452523-33459358	Hela-S3	cervix:
8	chr22:32056284..32058646-chr22:32144248..32146954,2	MCF-7	breast:
9	chr22:32143674..32146329-chr22:32241291..32243134,2	K562	blood:
10	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
11	22:32137554-32145079..22:32544939-32549151	Hela-S3	cervix:
12	22:32137554-32145079..22:32292186-32294405	Hela-S3	cervix:
13	22:32053085-32061138..22:32137554-32145079	GM12878	blood:
14	22:32137554-32145079..22:32764253-32784733	K562	blood:
15	22:32137554-32145079..22:32868055-32872511	GM12878	blood:
16	chr22:31890350..31892385-chr22:32144551..32147460,2	K562	blood:
17	22:32137554-32145079..22:32162110-32166713	GM12878	blood:
18	22:31836635-31847259..22:32137554-32145079	Hela-S3	cervix:
19	22:32137554-32145079..22:32750950-32761732	Hela-S3	cervix:
20	22:32096851-32100847..22:32137554-32145079	Hela-S3	cervix:
21	22:32137554-32145079..22:33262063-33266567	Hela-S3	cervix:
22	22:32102727-32109893..22:32137554-32145079	Hela-S3	cervix:
23	chr22:32120656..32124590-chr22:32143018..32145052,3	K562	blood:
24	chr22:32125744..32127489-chr22:32144081..32146020,2	MCF-7	breast:
25	22:32137554-32145079..22:32342898-32343477	GM12878	blood:
26	22:31803954-31807204..22:32137554-32145079	Hela-S3	cervix:
27	22:32137554-32145079..22:32264718-32278135	Hela-S3	cervix:
28	22:32137554-32145079..22:33190123-33206921	Hela-S3	cervix:
29	chr22:32137907..32140169-chr22:32144527..32146057,2	K562	blood:
30	22:32137554-32145079..22:32802848-32805157	GM12878	blood:
31	22:31864703-31891033..22:32137554-32145079	K562	blood:
32	22:32137554-32145079..22:32170492-32188129	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000128276	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000242251	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000100220	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000205856	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1076674	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs11089530	0.93[ASN][1000 genomes]
rs11089531	0.83[CEU][hapmap]
rs11703040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703079	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs11703102	1.00[CHB][hapmap]
rs11703104	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703232	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs11703275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11703810	0.93[ASN][1000 genomes]
rs11703854	0.93[ASN][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11704362	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704377	0.93[ASN][1000 genomes]
rs11705097	0.93[ASN][1000 genomes]
rs11705235	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs11705329	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157427	0.80[ASN][1000 genomes]
rs12157989	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap]
rs12159673	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12160120	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12160737	0.80[ASN][1000 genomes]
rs12166848	0.80[ASN][1000 genomes]
rs131222	0.93[ASN][1000 genomes]
rs131224	0.93[ASN][1000 genomes]
rs131226	0.93[ASN][1000 genomes]
rs131228	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131235	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs131237	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs131241	1.00[ASN][1000 genomes]
rs131243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131251	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131254	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140079	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs140083	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140085	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989291	0.84[MEX][hapmap]
rs16989374	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs16989529	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs16989540	1.00[MEX][hapmap]
rs16989600	1.00[MEX][hapmap]
rs16989601	0.84[MEX][hapmap]
rs2040981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2051583	1.00[MEX][hapmap]
rs2413058	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804088	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs4603881	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55645350	0.93[ASN][1000 genomes]
rs55699591	0.93[ASN][1000 genomes]
rs5753753	0.80[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap]
rs5994424	0.93[ASN][1000 genomes]
rs5994436	0.83[CEU][hapmap];0.85[MEX][hapmap]
rs5998066	1.00[CHB][hapmap]
rs5998068	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap]
rs5998079	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs5998080	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs5998081	0.80[ASN][1000 genomes]
rs5998084	0.80[ASN][1000 genomes]
rs5998085	1.00[CHB][hapmap]
rs5998089	0.80[ASN][1000 genomes]
rs5998091	0.80[ASN][1000 genomes]
rs5998093	0.93[ASN][1000 genomes]
rs5998095	0.93[ASN][1000 genomes]
rs5998098	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs5998099	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs5998103	0.93[ASN][1000 genomes]
rs5998113	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998114	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998115	0.84[MEX][hapmap]
rs5998116	1.00[ASN][1000 genomes]
rs5998123	0.93[ASN][1000 genomes]
rs5998133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs5998134	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs5998135	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs5998144	1.00[MEX][hapmap]
rs5998161	0.85[MEX][hapmap]
rs60136719	0.93[ASN][1000 genomes]
rs60209974	0.80[ASN][1000 genomes]
rs60669705	0.93[ASN][1000 genomes]
rs61273982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238893	0.93[ASN][1000 genomes]
rs62238895	0.93[ASN][1000 genomes]
rs62238904	0.93[ASN][1000 genomes]
rs62238906	0.93[ASN][1000 genomes]
rs62239186	0.80[ASN][1000 genomes]
rs62239187	0.80[ASN][1000 genomes]
rs62239188	0.80[ASN][1000 genomes]
rs62240515	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240684	0.93[ASN][1000 genomes]
rs62240686	0.93[ASN][1000 genomes]
rs62240687	0.93[ASN][1000 genomes]
rs7289259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289535	0.87[ASN][1000 genomes]
rs7289702	0.83[CEU][hapmap]
rs7291898	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73162139	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740227	0.93[ASN][1000 genomes]
rs8136047	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs8141719	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs8143084	0.80[ASN][1000 genomes]
rs81946	0.93[ASN][1000 genomes]
rs9619222	0.80[ASN][1000 genomes]
rs9619224	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9621316	0.80[ASN][1000 genomes]

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	nsv1060929	chr22:32102701-32176860	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1013703	INPP5J	cis	parietal	SCAN
rs1013703	SEZ6L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32112200-32145000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32129200-32145200	Weak transcription	Gastric	stomach
3	chr22:32130800-32145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:32134800-32145200	Weak transcription	Esophagus	oesophagus
5	chr22:32134800-32145200	Weak transcription	Left Ventricle	heart
6	chr22:32134800-32145200	Weak transcription	Lung	lung
7	chr22:32143400-32146200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr22:32143600-32145000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:32143600-32145000	Enhancers	Colon Smooth Muscle	Colon
10	chr22:32143600-32146400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:32143600-32146400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:32143800-32145000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:32143800-32145200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr22:32143800-32145200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:32144000-32145000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:32144000-32145000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:32144000-32145000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr22:32144000-32145000	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:32144000-32145000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr22:32144000-32145000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr22:32144000-32145000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:32144000-32145000	Enhancers	Brain Anterior Caudate	brain
23	chr22:32144000-32145000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr22:32144000-32145000	Flanking Active TSS	HMEC	breast
25	chr22:32144000-32145200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:32144000-32145200	Flanking Active TSS	Osteobl	bone
27	chr22:32144000-32145400	Flanking Active TSS	Hela-S3	cervix
28	chr22:32144000-32145600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:32144000-32145600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:32144000-32145600	Flanking Active TSS	HUVEC	blood vessel
31	chr22:32144200-32145000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:32144200-32145000	Enhancers	Small Intestine	intestine
33	chr22:32144200-32145000	Flanking Active TSS	HepG2	liver
34	chr22:32144200-32145200	Enhancers	Stomach Mucosa	stomach
35	chr22:32144200-32145200	Flanking Active TSS	K562	blood
36	chr22:32144200-32145400	Flanking Active TSS	Dnd41	blood
37	chr22:32144200-32145400	Flanking Active TSS	NH-A	brain
38	chr22:32144200-32145600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr22:32144200-32145800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:32144200-32145800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:32144200-32146200	Active TSS	GM12878-XiMat	blood
42	chr22:32144200-32146200	Active TSS	NHLF	lung
43	chr22:32144200-32146400	Active TSS	HSMM	muscle
44	chr22:32144200-32146600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr22:32144200-32146600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:32144200-32146600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:32144400-32145000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:32144400-32145000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr22:32144400-32145000	Enhancers	Brain Substantia Nigra	brain
50	chr22:32144400-32145000	Flanking Active TSS	NHEK	skin

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