Variant report

Variant	rs7547599
Chromosome Location	chr1:78318880-78318881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1039863	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap]
rs10735751	0.83[CHB][hapmap]
rs10782656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873963	0.83[CHB][hapmap]
rs11162388	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1166700	0.89[CHB][hapmap]
rs1166703	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11811805	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1749913	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1780044	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap]
rs1780045	0.83[CHB][hapmap];0.82[JPT][hapmap];0.91[MKK][hapmap];0.82[TSI][hapmap]
rs1780047	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap]
rs2296452	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs2296454	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap]
rs3736909	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3767024	0.84[CEU][hapmap];0.83[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap]
rs3767025	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs3790586	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4631748	0.83[CHB][hapmap]
rs4949823	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424648	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6424653	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6604878	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675105	0.83[CHB][hapmap]
rs6695986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702465	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7520255	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7524521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7547820	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9662129	0.82[GIH][hapmap];0.82[JPT][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap]
rs9729146	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv947433	chr1:78310844-78325736	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78280600-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:78282800-78353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:78284600-78333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:78285600-78332000	Weak transcription	Spleen	Spleen
5	chr1:78286400-78333200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:78286600-78328400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:78290200-78334200	Weak transcription	Gastric	stomach
8	chr1:78296800-78329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:78298400-78340400	Weak transcription	Colonic Mucosa	Colon
10	chr1:78298600-78327000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:78298600-78352400	Weak transcription	Right Ventricle	heart
12	chr1:78298800-78332800	Weak transcription	Fetal Kidney	kidney
13	chr1:78299400-78340200	Weak transcription	NHEK	skin
14	chr1:78299400-78341200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:78299600-78340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:78299600-78343000	Weak transcription	K562	blood
17	chr1:78299600-78353800	Weak transcription	Brain Substantia Nigra	brain
18	chr1:78300200-78331600	Weak transcription	Lung	lung
19	chr1:78300200-78332600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:78300800-78320600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:78300800-78328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:78300800-78342200	Weak transcription	Fetal Brain Male	brain
23	chr1:78301400-78325600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:78301400-78332800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:78301400-78353200	Weak transcription	HSMMtube	muscle
26	chr1:78301800-78342400	Weak transcription	NHLF	lung
27	chr1:78302000-78332000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:78302800-78334200	Weak transcription	HepG2	liver
29	chr1:78303800-78326000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:78303800-78332800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:78304000-78320600	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:78305800-78319000	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:78305800-78319200	Weak transcription	Brain Anterior Caudate	brain
34	chr1:78305800-78320800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:78305800-78332200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:78305800-78342600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:78306000-78342600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:78309200-78328800	Weak transcription	NH-A	brain
39	chr1:78309200-78352400	Weak transcription	Aorta	Aorta
40	chr1:78309400-78320000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:78309400-78324400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:78309400-78324600	Weak transcription	Liver	Liver
43	chr1:78309400-78325600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:78309400-78326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:78309600-78330200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:78309800-78319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:78309800-78319800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:78309800-78320600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:78309800-78328000	Weak transcription	Placenta	Placenta
50	chr1:78310000-78319200	Weak transcription	Fetal Stomach	stomach

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