Variant report

Variant	rs300945
Chromosome Location	chr4:144208053-144208054
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10461277	0.86[EUR][1000 genomes]
rs10461278	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10461279	0.90[EUR][1000 genomes]
rs10519679	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519681	0.87[AFR][1000 genomes]
rs1108827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933189	0.83[EUR][1000 genomes]
rs11941742	0.90[EUR][1000 genomes]
rs11941986	1.00[CHB][hapmap]
rs13105156	1.00[CHB][hapmap]
rs13105227	0.95[EUR][1000 genomes]
rs13105258	0.95[EUR][1000 genomes]
rs13111543	0.95[EUR][1000 genomes]
rs13113118	0.95[EUR][1000 genomes]
rs13130995	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13131510	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13133540	1.00[CHB][hapmap]
rs13140326	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13141368	0.81[EUR][1000 genomes]
rs13142436	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13145081	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13146448	1.00[CHB][hapmap]
rs17017424	0.93[EUR][1000 genomes]
rs300907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300932	0.95[EUR][1000 genomes]
rs300933	0.95[EUR][1000 genomes]
rs300937	0.95[EUR][1000 genomes]
rs300942	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs300944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300954	1.00[CHB][hapmap]
rs300955	1.00[CHB][hapmap]
rs34176541	0.90[EUR][1000 genomes]
rs34198661	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34225955	0.86[EUR][1000 genomes]
rs34461753	0.90[EUR][1000 genomes]
rs34474130	0.90[EUR][1000 genomes]
rs34589296	0.90[EUR][1000 genomes]
rs34652171	0.86[EUR][1000 genomes]
rs34780033	0.95[EUR][1000 genomes]
rs35027946	1.00[ASN][1000 genomes]
rs35095943	0.86[EUR][1000 genomes]
rs35143494	0.90[EUR][1000 genomes]
rs35305979	0.83[EUR][1000 genomes]
rs35416586	0.86[EUR][1000 genomes]
rs35549285	0.90[EUR][1000 genomes]
rs35607189	0.90[EUR][1000 genomes]
rs35887480	0.95[EUR][1000 genomes]
rs35909303	0.95[EUR][1000 genomes]
rs35971728	0.93[EUR][1000 genomes]
rs35988039	0.88[EUR][1000 genomes]
rs4554015	0.83[EUR][1000 genomes]
rs55693016	0.95[EUR][1000 genomes]
rs55846476	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56085707	0.90[EUR][1000 genomes]
rs56142323	0.93[EUR][1000 genomes]
rs57674712	0.87[AFR][1000 genomes]
rs603861	0.93[EUR][1000 genomes]
rs603934	0.93[EUR][1000 genomes]
rs604746	0.93[EUR][1000 genomes]
rs61193096	0.81[AFR][1000 genomes]
rs61288732	0.95[AFR][1000 genomes]
rs6834491	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6842633	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6853356	0.83[EUR][1000 genomes]
rs686770	0.85[EUR][1000 genomes]
rs71610420	0.86[EUR][1000 genomes]
rs71610422	0.90[EUR][1000 genomes]
rs71610423	0.90[EUR][1000 genomes]
rs71610426	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71610427	0.90[EUR][1000 genomes]
rs71610428	0.93[EUR][1000 genomes]
rs71610429	0.93[EUR][1000 genomes]
rs71610430	1.00[ASN][1000 genomes]
rs71610431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726022	0.95[EUR][1000 genomes]
rs73850702	0.95[AFR][1000 genomes]
rs7670050	0.90[EUR][1000 genomes]
rs7670426	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7674403	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7686023	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9637656	0.90[EUR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144204800-144208200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:144206000-144210200	Enhancers	Fetal Stomach	stomach
3	chr4:144206200-144209000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr4:144206600-144208800	Enhancers	Fetal Lung	lung
5	chr4:144206800-144208200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:144206800-144209000	Enhancers	Fetal Brain Male	brain
7	chr4:144206800-144209000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:144206800-144209200	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:144207000-144208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:144207000-144208200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:144207000-144208200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:144207000-144208600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:144207000-144208800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:144207000-144208800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:144207000-144209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:144207000-144209000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:144207000-144209000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:144207200-144208200	Enhancers	Colon Smooth Muscle	Colon
19	chr4:144207200-144208200	Enhancers	HMEC	breast
20	chr4:144207200-144208400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:144207200-144208600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:144207200-144208600	Enhancers	Aorta	Aorta
23	chr4:144207200-144209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:144207200-144209000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:144207200-144209000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:144207200-144209000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:144207200-144209000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:144207400-144208200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:144207400-144208200	Flanking Active TSS	Osteobl	bone
30	chr4:144207400-144208600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:144207400-144208800	Enhancers	HSMM	muscle
32	chr4:144207400-144209000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:144207400-144209000	Enhancers	Esophagus	oesophagus
34	chr4:144207600-144208400	Active TSS	Ovary	ovary
35	chr4:144207600-144208800	Weak transcription	Psoas Muscle	Psoas
36	chr4:144207600-144209000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:144207800-144208200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:144207800-144208400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:144207800-144208400	Flanking Active TSS	NHDF-Ad	bronchial
40	chr4:144207800-144208800	Enhancers	HSMMtube	muscle
41	chr4:144208000-144208200	Flanking Active TSS	NHLF	lung
42	chr4:144208000-144208400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:144208000-144208400	Enhancers	Stomach Smooth Muscle	stomach
44	chr4:144208000-144208600	Flanking Active TSS	NH-A	brain
45	chr4:144208000-144208800	Flanking Active TSS	NHEK	skin
46	chr4:144208000-144209600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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