Variant report

Variant	rs7552694
Chromosome Location	chr1:70741370-70741371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10157062	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10493470	0.83[CEU][hapmap]
rs10493471	0.83[CEU][hapmap]
rs10493472	0.83[CEU][hapmap]
rs11799572	0.82[CEU][hapmap]
rs11810721	0.83[CEU][hapmap]
rs17131182	0.83[CEU][hapmap]
rs17131183	0.83[CEU][hapmap]
rs17131186	0.91[CEU][hapmap]
rs17131190	0.83[CEU][hapmap]
rs17131191	0.83[CEU][hapmap]
rs17131193	0.83[CEU][hapmap]
rs17131196	0.91[CEU][hapmap];0.89[LWK][hapmap]
rs17131201	0.91[CEU][hapmap]
rs17131204	0.83[CEU][hapmap]
rs17131207	0.90[CEU][hapmap]
rs17131208	0.83[CEU][hapmap]
rs17131212	0.91[CEU][hapmap]
rs17131215	0.83[CEU][hapmap]
rs17131217	0.91[CEU][hapmap];0.83[GIH][hapmap]
rs17131218	0.83[CEU][hapmap]
rs17131223	0.83[CEU][hapmap];0.81[CHD][hapmap]
rs17357463	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes]
rs2101889	0.83[CEU][hapmap]
rs2220959	0.83[CEU][hapmap]
rs3738119	0.91[CEU][hapmap]
rs3767209	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3767210	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes]
rs3767211	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3806385	0.81[CEU][hapmap]
rs487613	0.82[EUR][1000 genomes]
rs55782523	0.87[EUR][1000 genomes]
rs56200611	0.83[EUR][1000 genomes]
rs56297507	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61785271	0.87[EUR][1000 genomes]
rs61785280	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61785281	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61785283	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785284	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785285	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6413472	0.83[CEU][hapmap]
rs6696040	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes]
rs724681	0.91[CEU][hapmap]
rs7518536	0.83[CEU][hapmap]
rs7521532	0.83[CEU][hapmap]
rs7553993	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
3	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
4	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
5	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
6	chr1:70715800-70747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
10	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
13	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
14	chr1:70717000-70746200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:70717600-70746000	Weak transcription	Fetal Brain Male	brain
19	chr1:70717600-70752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:70717600-70755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:70717800-70758000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:70717800-70761200	Weak transcription	NHLF	lung
25	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:70718000-70742000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:70718000-70746000	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:70718200-70755800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:70719000-70758800	Weak transcription	HMEC	breast
31	chr1:70719200-70783800	Weak transcription	A549	lung
32	chr1:70722800-70745800	Weak transcription	Fetal Heart	heart
33	chr1:70723600-70756800	Weak transcription	Lung	lung
34	chr1:70728600-70742000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:70728600-70747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:70728600-70756200	Weak transcription	NH-A	brain
37	chr1:70728600-70761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:70728800-70749600	Weak transcription	NHEK	skin
39	chr1:70729000-70741400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:70730400-70743600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:70730600-70742200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:70731400-70756800	Weak transcription	Left Ventricle	heart
43	chr1:70731800-70743400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:70732400-70742400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:70733800-70744600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:70733800-70745800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
48	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
49	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:70734400-70742000	Weak transcription	Fetal Lung	lung

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