Variant report

Variant	rs722296
Chromosome Location	chr1:94742967-94742968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94741320..94745215-chr1:94746019..94749869,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11165098	0.94[ASN][1000 genomes]
rs11165104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165105	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165111	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165120	0.88[YRI][hapmap]
rs11587699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069420	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12084043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090310	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12090491	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096115	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1330855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1687949	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111360	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1756254	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2150269	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2774923	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613199	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35493159	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3789688	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[YRI][hapmap];0.92[ASN][1000 genomes]
rs3814019	0.91[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3827751	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58466782	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59960594	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7525008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7530160	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7535547	0.88[YRI][hapmap]
rs7538484	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7540684	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548951	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs722296	WDR41	cis	Temporal Cortex	GTEx
rs722296	BARHL2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94730800-94743600	Weak transcription	Lung	lung
2	chr1:94734200-94748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:94736800-94744800	Weak transcription	HUVEC	blood vessel
4	chr1:94738400-94744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:94738400-94750000	Weak transcription	Pancreas	Pancrea
6	chr1:94738400-94750000	Weak transcription	HMEC	breast
7	chr1:94738600-94744400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:94738600-94750200	Weak transcription	Fetal Kidney	kidney
9	chr1:94738800-94750600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:94739000-94744800	Weak transcription	HSMM	muscle
11	chr1:94739200-94746200	Weak transcription	NH-A	brain
12	chr1:94740200-94746600	Enhancers	Fetal Muscle Leg	muscle
13	chr1:94740800-94745800	Weak transcription	Right Atrium	heart
14	chr1:94741200-94744800	Weak transcription	Fetal Stomach	stomach
15	chr1:94741200-94746800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:94741800-94747000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:94742200-94743400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:94742400-94743000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94742400-94743000	Enhancers	Fetal Lung	lung
20	chr1:94742400-94743000	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:94742400-94743000	Enhancers	HSMMtube	muscle
22	chr1:94742400-94743400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:94742400-94743400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:94742400-94743400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:94742400-94743400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:94742400-94743600	Enhancers	NHDF-Ad	bronchial
27	chr1:94742400-94743600	Enhancers	Osteobl	bone
28	chr1:94742600-94743000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:94742600-94743000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:94742600-94743000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:94742600-94743400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:94742800-94743000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:94742800-94743400	Enhancers	NHLF	lung
34	chr1:94742800-94743600	Enhancers	Adipose Nuclei	Adipose

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