Variant report

Variant	rs831596
Chromosome Location	chr11:33766630-33766631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33757828..33761273-chr11:33765808..33770040,4	K562	blood:
2	chr11:33756213..33759924-chr11:33763049..33766673,5	MCF-7	breast:
3	chr11:33765991..33768760-chr11:33799223..33801233,2	K562	blood:

Variant related genes	Relation type
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10836108	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1096558	0.88[ASN][1000 genomes]
rs1096559	0.88[ASN][1000 genomes]
rs1096563	0.88[ASN][1000 genomes]
rs11032363	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs11032366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146621	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12282096	0.82[MEX][hapmap]
rs1402953	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1464486	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1464487	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1522087	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1578986	0.91[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1738547	0.88[ASN][1000 genomes]
rs1738548	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2272065	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901376	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs704702	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs704703	0.91[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125621	0.82[MEX][hapmap]
rs831594	0.91[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831603	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs953871	0.91[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs831596	CAPRIN1	cis	cerebellum	SCAN
rs831596	FBXO3	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758000-33770200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:33758600-33767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:33758600-33770200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:33758800-33768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:33758800-33768400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:33758800-33770000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:33758800-33770800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:33758800-33771800	Weak transcription	Brain Angular Gyrus	brain
9	chr11:33758800-33774600	Weak transcription	Esophagus	oesophagus
10	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:33759000-33767800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:33759000-33768200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:33759000-33769200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:33759000-33770200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:33759000-33771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:33759000-33773400	Weak transcription	Lung	lung
17	chr11:33759000-33774600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:33759000-33778400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:33759000-33780800	Weak transcription	Psoas Muscle	Psoas
20	chr11:33759000-33781000	Weak transcription	Fetal Brain Male	brain
21	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:33759200-33770200	Weak transcription	GM12878-XiMat	blood
23	chr11:33759200-33771000	Weak transcription	Brain Anterior Caudate	brain
24	chr11:33759200-33771200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:33759200-33774600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:33759400-33767800	Weak transcription	Brain Germinal Matrix	brain
27	chr11:33759400-33768200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:33759400-33770600	Weak transcription	NH-A	brain
29	chr11:33759400-33773400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:33759400-33778200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:33759600-33767800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:33759600-33768200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:33759600-33768400	Weak transcription	Fetal Kidney	kidney
34	chr11:33759600-33774600	Weak transcription	HSMMtube	muscle
35	chr11:33759800-33769400	Weak transcription	Osteobl	bone
36	chr11:33760000-33767600	Weak transcription	HMEC	breast
37	chr11:33760000-33774400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:33760200-33774600	Weak transcription	Hela-S3	cervix
39	chr11:33760400-33769200	Weak transcription	NHLF	lung
40	chr11:33760400-33770600	Weak transcription	NHDF-Ad	bronchial
41	chr11:33760400-33774600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:33760400-33785200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:33760800-33767600	Weak transcription	K562	blood
44	chr11:33761800-33767400	Weak transcription	NHEK	skin
45	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
46	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:33764000-33781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:33764200-33769600	Weak transcription	HUVEC	blood vessel
49	chr11:33764200-33773400	Strong transcription	Primary B cells from cord blood	blood
50	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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