Variant report

Variant	rs3775046
Chromosome Location	chr4:96126653-96126654
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96126045..96127650-chr4:96129190..96131527,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11944846	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs12642020	0.95[CEU][hapmap]
rs1865378	0.82[CEU][hapmap];0.80[GIH][hapmap]
rs2276322	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571037	0.83[MEX][hapmap]
rs2571038	0.83[MEX][hapmap]
rs2621451	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2865415	0.91[CEU][hapmap]
rs3733212	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775043	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3775044	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs3775045	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3775047	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775050	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.82[LWK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs3775051	0.80[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.80[TSI][hapmap];0.89[ASN][1000 genomes]
rs3775052	0.88[EUR][1000 genomes]
rs3775053	0.95[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4699836	0.82[CEU][hapmap]
rs7439701	0.82[CEU][hapmap]
rs7440613	0.82[CEU][hapmap]
rs7676599	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7693043	0.90[ASN][1000 genomes]
rs9307155	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9637615	0.83[CEU][hapmap]
rs995062	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3324408	chr4:96126564-96126926	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3775046	UNC5C	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
2	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
3	chr4:96110600-96133800	Weak transcription	Gastric	stomach
4	chr4:96110600-96134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:96112600-96127200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:96115400-96134000	Weak transcription	Aorta	Aorta
7	chr4:96115800-96132800	Weak transcription	Right Ventricle	heart
8	chr4:96119600-96128200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:96122600-96127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:96123000-96131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:96124200-96131000	Weak transcription	Lung	lung
12	chr4:96124200-96133800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:96124200-96135400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:96124200-96135400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:96124400-96132000	Weak transcription	Osteobl	bone
16	chr4:96125000-96133800	Weak transcription	Fetal Stomach	stomach
17	chr4:96125600-96131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:96125800-96132200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:96126000-96131200	Weak transcription	Brain Germinal Matrix	brain
20	chr4:96126000-96133600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:96126000-96134600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:96126000-96134600	Weak transcription	Fetal Lung	lung
23	chr4:96126000-96137000	Weak transcription	Ovary	ovary
24	chr4:96126400-96127400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:96126400-96127600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:96126400-96127600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:96126400-96133600	Weak transcription	Brain Anterior Caudate	brain
28	chr4:96126400-96133800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:96126600-96132000	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:96126600-96133800	Weak transcription	Brain Angular Gyrus	brain

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