Variant report

Variant	rs6684740
Chromosome Location	chr1:184266793-184266794
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	chr1:184259867..184262376-chr1:184264911..184267175,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10047215	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10442605	0.82[ASN][1000 genomes]
rs10737250	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10797951	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10797952	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10797953	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10797954	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911545	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911546	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911547	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911548	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911549	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911550	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911553	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911554	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911555	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1111088	0.81[ASN][1000 genomes]
rs11576933	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579542	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11802851	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12028040	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12124041	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127124	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12139721	0.83[ASN][1000 genomes]
rs16822656	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16822659	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1930285	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1930290	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428848	0.84[ASN][1000 genomes]
rs4651200	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4993067	0.83[EUR][1000 genomes]
rs6424941	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6424942	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6424943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6424944	0.83[ASN][1000 genomes]
rs6666447	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678439	0.81[ASN][1000 genomes]
rs6693421	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6695243	0.83[ASN][1000 genomes]
rs6697326	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6697577	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72735632	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7355183	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522326	0.83[ASN][1000 genomes]
rs7525134	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7530243	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543622	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7554776	0.84[EUR][1000 genomes]
rs932993	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs949784	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs957558	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963234	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184258600-184267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:184261600-184268000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:184264600-184269400	Enhancers	Fetal Brain Female	brain
4	chr1:184264800-184266800	Enhancers	Aorta	Aorta
5	chr1:184264800-184269600	Enhancers	Fetal Brain Male	brain
6	chr1:184264800-184269800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:184265000-184267600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:184265000-184269200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:184265200-184267000	Enhancers	Dnd41	blood
10	chr1:184265200-184268200	Enhancers	Osteobl	bone
11	chr1:184265200-184268400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:184265200-184269000	Enhancers	Fetal Stomach	stomach
13	chr1:184265200-184269200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:184265200-184270600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:184265200-184271800	Enhancers	NHLF	lung
16	chr1:184265400-184266800	Enhancers	Fetal Lung	lung
17	chr1:184265400-184267000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:184265400-184267000	Enhancers	Adipose Nuclei	Adipose
19	chr1:184265400-184267400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:184265400-184269400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:184265600-184266800	Enhancers	HSMM	muscle
22	chr1:184265600-184267000	Enhancers	Colon Smooth Muscle	Colon
23	chr1:184266000-184267800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:184266000-184268000	Weak transcription	NHEK	skin
25	chr1:184266000-184269200	Enhancers	Right Atrium	heart
26	chr1:184266000-184270400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:184266200-184267000	Enhancers	Liver	Liver
28	chr1:184266200-184267000	Enhancers	HUVEC	blood vessel
29	chr1:184266200-184267000	Enhancers	NH-A	brain
30	chr1:184266200-184267400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:184266200-184267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:184266200-184267600	Weak transcription	HSMMtube	muscle
33	chr1:184266200-184267800	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:184266400-184266800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:184266400-184266800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:184266400-184267200	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:184266400-184267200	Enhancers	Spleen	Spleen
38	chr1:184266400-184267600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:184266400-184268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:184266400-184268200	Enhancers	Pancreas	Pancrea
41	chr1:184266400-184268400	Enhancers	Lung	lung
42	chr1:184266400-184269000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:184266400-184269000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:184266400-184270200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:184266600-184266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:184266600-184266800	Flanking Active TSS	Fetal Heart	heart
47	chr1:184266600-184266800	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:184266600-184267200	Enhancers	Right Ventricle	heart
49	chr1:184266600-184267600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:184266600-184267600	Weak transcription	Left Ventricle	heart

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