Variant report

Variant	rs1245477
Chromosome Location	chr1:95174606-95174607
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	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10874885	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165226	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11582204	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12406332	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532250	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532251	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532252	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640061	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640062	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640063	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802097	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802098	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802100	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802101	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802102	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2802103	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2933916	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2933917	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2997377	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34670167	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847346	0.84[EUR][1000 genomes]
rs4847348	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6665058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841329	0.85[EUR][1000 genomes]

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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1001043	chr1:95158042-95185906	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95165000-95175400	Weak transcription	NH-A	brain
3	chr1:95168200-95178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:95168200-95179600	Weak transcription	Placenta	Placenta
5	chr1:95168200-95179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
7	chr1:95168400-95178400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:95168400-95179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
10	chr1:95170200-95176800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:95171000-95177200	Enhancers	NHDF-Ad	bronchial
12	chr1:95171200-95176400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:95171400-95176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:95171800-95174800	Weak transcription	HepG2	liver
15	chr1:95172000-95179000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:95172400-95176200	Enhancers	NHLF	lung
17	chr1:95172600-95175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:95173000-95175800	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:95173000-95176400	Enhancers	Fetal Muscle Leg	muscle
20	chr1:95173200-95174800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:95173200-95176200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:95173200-95176200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:95173200-95178600	Weak transcription	A549	lung
24	chr1:95173400-95174800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:95173400-95175400	Weak transcription	Fetal Stomach	stomach
26	chr1:95173400-95179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:95173400-95179000	Weak transcription	Ovary	ovary
28	chr1:95173400-95179000	Weak transcription	Osteobl	bone
29	chr1:95173400-95179200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:95173400-95179200	Weak transcription	HSMMtube	muscle
31	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
32	chr1:95173600-95175000	Genic enhancers	Fetal Intestine Small	intestine
33	chr1:95173600-95178600	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:95173800-95175800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:95174000-95174800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:95174000-95175400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:95174000-95175600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:95174000-95176000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:95174000-95176000	Enhancers	NHEK	skin
40	chr1:95174000-95176200	Enhancers	HMEC	breast
41	chr1:95174000-95176600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:95174200-95174800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:95174200-95174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:95174200-95175000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:95174200-95175000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:95174200-95175600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:95174200-95175800	Enhancers	Lung	lung
48	chr1:95174200-95175800	Enhancers	Spleen	Spleen
49	chr1:95174200-95176400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:95174400-95174800	Weak transcription	H9 Cell Line	embryonic stem cell

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