Variant report

Variant	rs6669878
Chromosome Location	chr1:211814470-211814471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10158305	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158307	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779564	0.84[EUR][1000 genomes]
rs10779565	0.84[EUR][1000 genomes]
rs10779566	0.84[EUR][1000 genomes]
rs10863919	0.85[EUR][1000 genomes]
rs10863920	0.86[EUR][1000 genomes]
rs11119780	0.84[EUR][1000 genomes]
rs11119783	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119784	0.84[AMR][1000 genomes]
rs11119785	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119786	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119787	0.82[EUR][1000 genomes]
rs11576789	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11577255	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12123429	0.84[EUR][1000 genomes]
rs12142250	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727505	0.83[EUR][1000 genomes]
rs12734494	0.92[ASN][1000 genomes]
rs12741252	0.83[EUR][1000 genomes]
rs12744873	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12758005	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1373293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451435	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35531215	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4245741	0.86[EUR][1000 genomes]
rs4951416	0.81[EUR][1000 genomes]
rs4951418	0.81[EUR][1000 genomes]
rs4951419	0.82[EUR][1000 genomes]
rs4951421	0.82[EUR][1000 genomes]
rs4951539	0.82[EUR][1000 genomes]
rs61851777	0.84[EUR][1000 genomes]
rs6540698	0.84[EUR][1000 genomes]
rs6670986	0.84[EUR][1000 genomes]
rs6671497	0.84[EUR][1000 genomes]
rs6671506	0.82[EUR][1000 genomes]
rs6693364	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7513348	0.81[EUR][1000 genomes]
rs7523748	0.81[EUR][1000 genomes]
rs7551699	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs894853	0.84[EUR][1000 genomes]
rs894854	0.84[EUR][1000 genomes]
rs894855	0.83[EUR][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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
3	chr1:211807000-211816200	Weak transcription	Ovary	ovary
4	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
5	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
8	chr1:211810600-211816400	Weak transcription	Spleen	Spleen
9	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
10	chr1:211811600-211815000	Enhancers	Liver	Liver
11	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
12	chr1:211812400-211816600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:211812600-211816600	Weak transcription	Esophagus	oesophagus
14	chr1:211813000-211814600	Active TSS	Hela-S3	cervix
15	chr1:211813200-211816200	Weak transcription	Pancreas	Pancrea
16	chr1:211813200-211816400	Weak transcription	HMEC	breast
17	chr1:211813200-211816600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:211813200-211817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:211813400-211816400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:211813600-211816200	Enhancers	HepG2	liver
21	chr1:211813600-211816600	Weak transcription	Placenta	Placenta
22	chr1:211813600-211817200	Weak transcription	HSMM	muscle
23	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:211813800-211816000	Weak transcription	Fetal Thymus	thymus
25	chr1:211813800-211816200	Weak transcription	Stomach Mucosa	stomach
26	chr1:211813800-211816400	Weak transcription	A549	lung
27	chr1:211813800-211816600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:211813800-211816800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:211813800-211817000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
31	chr1:211814000-211816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:211814000-211816400	Weak transcription	Fetal Heart	heart
33	chr1:211814000-211816800	Weak transcription	HUVEC	blood vessel
34	chr1:211814000-211817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:211814000-211817000	Weak transcription	Osteobl	bone
36	chr1:211814200-211816800	Weak transcription	NHLF	lung
37	chr1:211814400-211816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:211814400-211816400	Weak transcription	NH-A	brain

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