Variant report

Variant	rs17111408
Chromosome Location	chr1:94788623-94788624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1054626	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165103	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11165114	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12022859	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024941	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12027548	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031606	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12036085	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038745	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039546	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042509	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12046536	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12093742	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12562103	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12563826	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360365	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1576592	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1611832	0.92[EUR][1000 genomes]
rs1622451	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623248	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1623314	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1629275	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687947	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1687950	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16928	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111419	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17111426	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111436	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765636	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765640	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1929131	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1999270	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1999271	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2130899	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391472	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35275815	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3789690	0.82[EUR][1000 genomes]
rs4543802	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4847201	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4847296	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55961421	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56037795	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57666908	0.82[EUR][1000 genomes]
rs6541343	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6541345	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6662877	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6673491	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675959	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6681827	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66918029	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66961454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180557	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67554381	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67612304	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67681803	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67807923	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68193246	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7413345	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7415246	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515965	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520754	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525320	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7533977	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7554714	0.89[EUR][1000 genomes];0.86[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	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	chr1:94782800-94789000	Weak transcription	Fetal Kidney	kidney
4	chr1:94783000-94789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:94784400-94791000	Weak transcription	Gastric	stomach
7	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94785800-94789000	Enhancers	HUVEC	blood vessel
11	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
12	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:94785800-94791800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:94786800-94790400	Weak transcription	Left Ventricle	heart
17	chr1:94787000-94789200	Enhancers	NHEK	skin
18	chr1:94787000-94789400	Enhancers	NHDF-Ad	bronchial
19	chr1:94787000-94790800	Enhancers	HSMMtube	muscle
20	chr1:94787200-94788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:94787200-94788800	Enhancers	HepG2	liver
22	chr1:94787200-94789000	Enhancers	HMEC	breast
23	chr1:94787200-94789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94787200-94789800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:94787200-94790800	Enhancers	Hela-S3	cervix
26	chr1:94787200-94791400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:94787200-94791400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:94787400-94788800	Enhancers	HSMM	muscle
30	chr1:94787400-94789200	Enhancers	Fetal Muscle Leg	muscle
31	chr1:94787400-94790200	Flanking Active TSS	A549	lung
32	chr1:94787600-94789400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:94787600-94789800	Enhancers	NH-A	brain
34	chr1:94787600-94790000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:94787800-94788800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:94787800-94788800	Enhancers	Placenta	Placenta
37	chr1:94787800-94789200	Enhancers	Lung	lung
38	chr1:94787800-94789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94787800-94789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:94787800-94789600	Enhancers	Aorta	Aorta
41	chr1:94787800-94790200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:94787800-94790800	Enhancers	Osteobl	bone
43	chr1:94787800-94793400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:94788000-94790600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:94788400-94789600	Enhancers	Right Atrium	heart
46	chr1:94788400-94790800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:94788400-94791000	Weak transcription	Adipose Nuclei	Adipose
48	chr1:94788400-94791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:94788400-94792000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:94788400-94792600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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