Variant report

Variant	rs6835734
Chromosome Location	chr4:75148922-75148923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75124334..75127975-chr4:75147199..75149454,4	K562	blood:
2	chr4:75143302..75145646-chr4:75147933..75149559,2	K562	blood:
3	chr4:75093661..75096004-chr4:75147885..75149545,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10009707	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs10010575	0.82[ASW][hapmap];0.83[CEU][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10013212	0.86[EUR][1000 genomes]
rs10017409	0.91[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs10018373	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs10019396	0.87[EUR][1000 genomes]
rs10023519	0.86[CEU][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs10026687	0.86[CEU][hapmap];0.92[EUR][1000 genomes]
rs10028285	0.95[EUR][1000 genomes]
rs1037824	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10433673	0.86[EUR][1000 genomes]
rs10938112	0.87[EUR][1000 genomes]
rs11724468	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11737662	0.86[TSI][hapmap]
rs11942725	0.81[EUR][1000 genomes]
rs1246575	0.86[TSI][hapmap]
rs1246578	0.86[TSI][hapmap]
rs1246591	0.86[TSI][hapmap]
rs1265327	0.86[TSI][hapmap]
rs13116896	0.86[EUR][1000 genomes]
rs13142241	0.84[EUR][1000 genomes]
rs1371796	0.82[EUR][1000 genomes]
rs1380561	0.81[EUR][1000 genomes]
rs1460016	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs16850862	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs16850883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16850941	0.81[EUR][1000 genomes]
rs17232394	0.92[EUR][1000 genomes]
rs17829765	0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs1964526	0.85[EUR][1000 genomes]
rs2045616	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2045618	0.82[EUR][1000 genomes]
rs2061508	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2367555	0.87[EUR][1000 genomes]
rs2367745	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs28378517	0.89[EUR][1000 genomes]
rs28436705	0.85[EUR][1000 genomes]
rs28539097	0.94[EUR][1000 genomes]
rs28644493	0.94[EUR][1000 genomes]
rs28695994	0.85[EUR][1000 genomes]
rs4371587	0.84[EUR][1000 genomes]
rs4502653	0.92[EUR][1000 genomes]
rs4694184	0.84[EUR][1000 genomes]
rs488440	0.86[TSI][hapmap]
rs58813617	0.86[EUR][1000 genomes]
rs62312515	0.81[EUR][1000 genomes]
rs62312545	0.91[EUR][1000 genomes]
rs6446983	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs6446984	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6446985	0.95[EUR][1000 genomes]
rs6814880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819605	0.95[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs6820992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6821664	0.86[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs6854203	0.80[EUR][1000 genomes]
rs6854723	0.86[CEU][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs715844	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7659389	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs7663269	0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs7665105	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs7670535	0.91[EUR][1000 genomes]
rs7672588	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs7680463	0.80[EUR][1000 genomes]
rs7681912	0.81[CEU][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs7683181	0.84[EUR][1000 genomes]
rs9992393	0.81[EUR][1000 genomes]
rs9997322	0.86[CEU][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs9997788	0.81[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6835734	ANKRD56	cis	parietal	SCAN
rs6835734	CNOT6L	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart
2	chr4:75132200-75157800	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:75133800-75160000	Weak transcription	Liver	Liver
4	chr4:75134000-75173800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:75141800-75151200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:75144000-75153200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:75144400-75162000	Weak transcription	Primary B cells from cord blood	blood
8	chr4:75144600-75149200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:75144800-75149400	Weak transcription	K562	blood
10	chr4:75145600-75150400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:75147200-75154200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:75147600-75149200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:75147600-75149200	Enhancers	HMEC	breast
14	chr4:75147600-75149200	Enhancers	NHEK	skin
15	chr4:75147600-75160400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:75147800-75150000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:75148200-75149200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:75148200-75149400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:75148200-75149400	Enhancers	Hela-S3	cervix
20	chr4:75148400-75149400	Enhancers	Osteobl	bone
21	chr4:75148400-75150000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:75148600-75149200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:75148600-75150000	Enhancers	NHDF-Ad	bronchial
24	chr4:75148600-75150200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:75148800-75149000	Strong transcription	Aorta	Aorta
26	chr4:75148800-75149000	Genic enhancers	Esophagus	oesophagus
27	chr4:75148800-75149400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:75148800-75149400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:75148800-75149400	Enhancers	Stomach Mucosa	stomach
30	chr4:75148800-75149600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:75148800-75149800	Enhancers	HSMM	muscle
32	chr4:75148800-75150000	Enhancers	NH-A	brain
33	chr4:75148800-75150000	Enhancers	NHLF	lung

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