Variant report

Variant	rs1166701
Chromosome Location	chr1:78394393-78394394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78392441..78395302-chr1:78399570..78403440,3	K562	blood:
2	chr1:78393897..78395794-chr1:78397556..78400476,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1001104	0.80[AMR][1000 genomes]
rs10437022	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873956	0.80[AMR][1000 genomes]
rs10873960	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11162400	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11162403	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11162406	0.81[AMR][1000 genomes]
rs1166697	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166704	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1166705	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1166706	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1166707	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs11805735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11807240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12146104	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12405212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12409561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12723748	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1335481	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1536160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1555798	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1616949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626757	0.82[AMR][1000 genomes]
rs17383213	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17387365	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1971368	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2136682	0.89[ASN][1000 genomes]
rs2154138	0.80[AMR][1000 genomes]
rs2274257	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296453	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3767028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4370803	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4372306	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4949828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57421725	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6424640	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6424650	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6424660	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	0.80[AMR][1000 genomes]
rs6656888	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6659045	0.80[AMR][1000 genomes]
rs6667733	0.80[AMR][1000 genomes]
rs6677890	0.80[AMR][1000 genomes]
rs750720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7514007	0.82[AMR][1000 genomes]
rs7538210	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7544892	0.80[AMR][1000 genomes]
rs9324166	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9730688	0.85[AMR][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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78356200-78408600	Weak transcription	HMEC	breast
2	chr1:78356400-78396000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:78367000-78407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:78371600-78413000	Weak transcription	Psoas Muscle	Psoas
5	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
6	chr1:78381600-78395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:78382200-78407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:78382200-78408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:78382400-78405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:78382800-78395800	Weak transcription	NHDF-Ad	bronchial
11	chr1:78383000-78400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:78383600-78418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:78383800-78404000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:78384000-78395400	Weak transcription	Fetal Heart	heart
15	chr1:78384400-78395400	Weak transcription	Right Ventricle	heart
16	chr1:78384600-78396400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:78384600-78406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:78385200-78400000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:78385600-78396400	Weak transcription	Ovary	ovary
20	chr1:78387600-78395000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:78387600-78395200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:78387600-78399400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:78387800-78412600	Weak transcription	Fetal Brain Male	brain
24	chr1:78388600-78416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:78388800-78410000	Strong transcription	HSMMtube	muscle
26	chr1:78389000-78395600	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:78389000-78414600	Strong transcription	NH-A	brain
28	chr1:78389200-78400200	Weak transcription	Gastric	stomach
29	chr1:78389400-78394800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:78390200-78399400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:78390200-78409800	Weak transcription	NHEK	skin
32	chr1:78391200-78401000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:78391200-78407000	Weak transcription	Fetal Kidney	kidney
34	chr1:78391200-78407200	Strong transcription	Osteobl	bone
35	chr1:78391400-78404000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:78391600-78403400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:78391800-78398800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:78392000-78395200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:78392000-78406200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:78392000-78411000	Weak transcription	Brain Anterior Caudate	brain
41	chr1:78392200-78420400	Strong transcription	HSMM	muscle
42	chr1:78392400-78397000	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:78392400-78402800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:78392600-78394800	Strong transcription	Fetal Stomach	stomach
45	chr1:78392600-78395000	Weak transcription	Adipose Nuclei	Adipose
46	chr1:78392600-78397600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:78392800-78395200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:78392800-78405000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:78392800-78408800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:78393000-78394400	Weak transcription	Fetal Muscle Trunk	muscle

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