Variant report

Variant	rs34202284
Chromosome Location	chr1:93160002-93160003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93155607..93158060-chr1:93158648..93160493,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11164803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11164814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11164816	0.83[EUR][1000 genomes]
rs11164820	0.84[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578098	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11581176	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11581705	0.83[EUR][1000 genomes]
rs11583778	0.81[EUR][1000 genomes]
rs11585590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11588545	0.83[EUR][1000 genomes]
rs11589122	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589660	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11591094	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11800409	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11800771	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800848	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11801763	0.87[YRI][hapmap]
rs11803097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11804321	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11805007	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805229	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805698	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807962	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808092	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11809055	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11809700	0.94[EUR][1000 genomes]
rs11810217	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[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]
rs12728322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12731107	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733238	0.83[EUR][1000 genomes]
rs12738833	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12743005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12743520	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12746893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749480	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756698	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756786	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1333743	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415296	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1854797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs2051841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893226	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34221961	0.83[EUR][1000 genomes]
rs34231012	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34244251	1.00[CHB][hapmap]
rs34250288	0.86[EUR][1000 genomes]
rs34288890	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34305407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34343030	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34734076	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34761380	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34812295	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34843292	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35038369	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35183060	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35241270	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35311203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35435370	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35526187	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35612297	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699160	0.86[EUR][1000 genomes]
rs35705463	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35901796	0.87[EUR][1000 genomes]
rs36099538	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114576	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3790450	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4642892	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs56044027	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59864761	0.83[EUR][1000 genomes]
rs6604026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67026262	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67646822	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67876779	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68160001	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71652503	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724515	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724555	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724574	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724587	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7514280	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34202284	HFM1	cis	parietal	SCAN
rs34202284	EPHX4	cis	parietal	SCAN
rs34202284	FAM69A	cis	cerebellum	SCAN
rs34202284	MYEOV2	trans	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
4	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:93121400-93162200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:93122000-93163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
10	chr1:93123600-93160200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:93123600-93160800	Weak transcription	Fetal Brain Male	brain
12	chr1:93123600-93161400	Weak transcription	Esophagus	oesophagus
13	chr1:93123600-93162200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:93123600-93162600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:93123600-93166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
17	chr1:93123600-93213400	Weak transcription	Gastric	stomach
18	chr1:93123800-93160400	Weak transcription	Right Ventricle	heart
19	chr1:93123800-93162400	Weak transcription	Fetal Kidney	kidney
20	chr1:93132000-93164600	Weak transcription	Pancreas	Pancrea
21	chr1:93136000-93164600	Weak transcription	NHDF-Ad	bronchial
22	chr1:93138000-93160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:93138400-93161600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:93142400-93171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:93146400-93164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:93146600-93175600	Weak transcription	NHEK	skin
27	chr1:93148000-93166800	Weak transcription	K562	blood
28	chr1:93148600-93171000	Weak transcription	Hela-S3	cervix
29	chr1:93152600-93167000	Weak transcription	Primary T cells from cord blood	blood
30	chr1:93153200-93165000	Strong transcription	Liver	Liver
31	chr1:93153400-93170200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:93153800-93160800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:93153800-93161000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:93154000-93160800	Strong transcription	Osteobl	bone
35	chr1:93154000-93161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:93154000-93167600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:93154200-93161400	Strong transcription	Placenta	Placenta
38	chr1:93154400-93160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:93154400-93161000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:93154400-93166000	Weak transcription	Fetal Heart	heart
41	chr1:93154600-93161800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:93155200-93161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:93155800-93160800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:93155800-93162600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:93155800-93213400	Weak transcription	Lung	lung
46	chr1:93156000-93160200	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:93156200-93160400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:93156200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:93156200-93172800	Weak transcription	HepG2	liver
50	chr1:93156200-93174000	Weak transcription	A549	lung

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