Variant report

Variant	rs12069536
Chromosome Location	chr1:94788037-94788038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

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]
rs11802896	0.89[YRI][hapmap]
rs11803374	1.00[EUR][1000 genomes]
rs11803749	1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	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	0.81[YRI][hapmap];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	0.94[YRI][hapmap];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]
rs1756265	0.89[YRI][hapmap]
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	1.00[YRI][hapmap];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	0.81[YRI][hapmap];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]
rs28494821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:57 , 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	chr1:94782800-94789000	Weak transcription	Fetal Kidney	kidney
4	chr1:94783000-94789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94783200-94788400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:94784400-94791000	Weak transcription	Gastric	stomach
8	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:94785600-94788200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:94785600-94788400	Weak transcription	Right Atrium	heart
12	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94785800-94789000	Enhancers	HUVEC	blood vessel
14	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
15	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:94785800-94791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:94786800-94790400	Weak transcription	Left Ventricle	heart
20	chr1:94787000-94789200	Enhancers	NHEK	skin
21	chr1:94787000-94789400	Enhancers	NHDF-Ad	bronchial
22	chr1:94787000-94790800	Enhancers	HSMMtube	muscle
23	chr1:94787200-94788600	Enhancers	Stomach Mucosa	stomach
24	chr1:94787200-94788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:94787200-94788800	Enhancers	HepG2	liver
26	chr1:94787200-94789000	Enhancers	HMEC	breast
27	chr1:94787200-94789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:94787200-94789800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:94787200-94790800	Enhancers	Hela-S3	cervix
30	chr1:94787200-94791400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:94787200-94791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:94787400-94788600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:94787400-94788800	Enhancers	HSMM	muscle
35	chr1:94787400-94789200	Enhancers	Fetal Muscle Leg	muscle
36	chr1:94787400-94790200	Flanking Active TSS	A549	lung
37	chr1:94787600-94789400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94787600-94789800	Enhancers	NH-A	brain
39	chr1:94787600-94790000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:94787800-94788400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:94787800-94788400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:94787800-94788600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr1:94787800-94788600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:94787800-94788600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:94787800-94788600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:94787800-94788800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:94787800-94788800	Enhancers	Placenta	Placenta
48	chr1:94787800-94789200	Enhancers	Lung	lung
49	chr1:94787800-94789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94787800-94789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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