Variant report

Variant	rs6679066
Chromosome Location	chr1:186279253-186279254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186275203..186277075-chr1:186278106..186280795,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10494583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10494584	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1406294	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825150	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16825183	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16825185	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16825201	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16825224	0.84[ASN][1000 genomes]
rs16825243	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16825248	0.84[ASN][1000 genomes]
rs16825279	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16825335	0.83[AMR][1000 genomes]
rs1919199	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919200	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272412	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2273777	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273778	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2297226	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28715477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34585917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736595	0.84[ASN][1000 genomes]
rs3736597	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3753565	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766699	0.81[ASN][1000 genomes]
rs3766702	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766703	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3766704	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3766705	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3766707	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3820181	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3820182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425024	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425027	0.81[ASN][1000 genomes]
rs6425028	0.81[ASN][1000 genomes]
rs6664763	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6667940	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6689129	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7514615	0.81[ASN][1000 genomes]
rs7525634	0.89[AMR][1000 genomes]
rs7556543	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186265600-186279400	Weak transcription	A549	lung
2	chr1:186267200-186281600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:186267400-186280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:186268600-186281200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:186269000-186281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:186269400-186281400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:186269400-186281400	Weak transcription	Fetal Heart	heart
8	chr1:186270400-186279600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:186272000-186280000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:186272000-186280000	Weak transcription	Osteobl	bone
11	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:186272400-186279600	Strong transcription	Liver	Liver
13	chr1:186272400-186280400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:186272400-186281200	Weak transcription	NHDF-Ad	bronchial
15	chr1:186273200-186283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:186273200-186284000	Weak transcription	Spleen	Spleen
17	chr1:186273200-186286200	Weak transcription	Pancreas	Pancrea
18	chr1:186273200-186290000	Weak transcription	Gastric	stomach
19	chr1:186275000-186279600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:186275000-186279600	Weak transcription	Left Ventricle	heart
21	chr1:186275000-186280200	Weak transcription	Placenta	Placenta
22	chr1:186275000-186281200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:186275000-186281400	Weak transcription	NHEK	skin
24	chr1:186275000-186282800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:186275000-186284000	Weak transcription	Aorta	Aorta
26	chr1:186275000-186284000	Weak transcription	Esophagus	oesophagus
27	chr1:186275000-186284000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:186275000-186284000	Weak transcription	Lung	lung
29	chr1:186275000-186284000	Weak transcription	Right Ventricle	heart
30	chr1:186275000-186284800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:186275000-186286200	Weak transcription	Psoas Muscle	Psoas
32	chr1:186275200-186281200	Weak transcription	HUVEC	blood vessel
33	chr1:186275200-186281400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:186275200-186284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:186275600-186283600	Weak transcription	HSMMtube	muscle
36	chr1:186276400-186280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:186276400-186281800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:186276600-186280400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:186276600-186280800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:186276600-186281400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:186276600-186281600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:186276800-186280000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:186276800-186284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:186276800-186285800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:186277000-186281200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:186277000-186283600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:186277600-186281400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:186277600-186281400	Weak transcription	GM12878-XiMat	blood
49	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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