Variant report

Variant	rs28494821
Chromosome Location	chr1:94789144-94789145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs10782981	1.00[EUR][1000 genomes]
rs10874845	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11800866	1.00[EUR][1000 genomes]
rs11801203	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11801251	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11802178	1.00[EUR][1000 genomes]
rs11802887	1.00[EUR][1000 genomes]
rs11803374	1.00[EUR][1000 genomes]
rs11803749	1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	1.00[EUR][1000 genomes]
rs12069536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330856	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1330858	1.00[EUR][1000 genomes]
rs1330859	1.00[EUR][1000 genomes]
rs1330860	1.00[EUR][1000 genomes]
rs1337856	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1337857	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1361124	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1411697	1.00[EUR][1000 genomes]
rs1411703	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1577920	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1616972	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1617363	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1617719	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687921	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687922	1.00[EUR][1000 genomes]
rs1687923	1.00[EUR][1000 genomes]
rs1687925	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687926	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687929	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687934	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687938	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687939	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687955	1.00[EUR][1000 genomes]
rs1687958	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687959	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687960	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs17111347	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756247	1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765616	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765624	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765625	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765631	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765633	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765634	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765637	0.89[AFR][1000 genomes]
rs1765638	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765639	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs2021993	1.00[EUR][1000 genomes]
rs2094824	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2483792	1.00[EUR][1000 genomes]
rs2774921	1.00[EUR][1000 genomes]
rs2893296	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847297	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs59778098	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs6673287	1.00[EUR][1000 genomes]
rs6684237	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs7548077	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]
rs9432270	1.00[EUR][1000 genomes]
rs9432441	1.00[EUR][1000 genomes]
rs9432688	1.00[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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
2	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
3	chr1:94783000-94789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:94784400-94791000	Weak transcription	Gastric	stomach
6	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
10	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:94785800-94791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:94786800-94790400	Weak transcription	Left Ventricle	heart
15	chr1:94787000-94789200	Enhancers	NHEK	skin
16	chr1:94787000-94789400	Enhancers	NHDF-Ad	bronchial
17	chr1:94787000-94790800	Enhancers	HSMMtube	muscle
18	chr1:94787200-94789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:94787200-94789800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:94787200-94790800	Enhancers	Hela-S3	cervix
21	chr1:94787200-94791400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:94787200-94791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:94787400-94789200	Enhancers	Fetal Muscle Leg	muscle
25	chr1:94787400-94790200	Flanking Active TSS	A549	lung
26	chr1:94787600-94789400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:94787600-94789800	Enhancers	NH-A	brain
28	chr1:94787600-94790000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:94787800-94789200	Enhancers	Lung	lung
30	chr1:94787800-94789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:94787800-94789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:94787800-94789600	Enhancers	Aorta	Aorta
33	chr1:94787800-94790200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:94787800-94790800	Enhancers	Osteobl	bone
35	chr1:94787800-94793400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:94788000-94790600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:94788400-94789600	Enhancers	Right Atrium	heart
38	chr1:94788400-94790800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:94788400-94791000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:94788400-94791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:94788400-94792000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:94788400-94792600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:94788400-94794000	Enhancers	NHLF	lung
44	chr1:94788600-94790000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:94788600-94790800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:94788600-94790800	Weak transcription	Stomach Mucosa	stomach
47	chr1:94788600-94792000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:94788600-94792000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:94788600-94792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:94788600-94792000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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