Variant report

Variant	rs4233306
Chromosome Location	chr1:214659598-214659599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10494980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864100	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10864101	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864102	0.85[CEU][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864103	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120329	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120330	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120331	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120332	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120333	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12068677	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12096551	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs12128034	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739305	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739336	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12743237	0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12757384	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12757776	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17023030	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4145623	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233301	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233302	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233303	0.82[ASN][1000 genomes]
rs4233304	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233307	0.84[CHB][hapmap]
rs4269744	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4284238	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4474219	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4480328	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539105	0.84[CHB][hapmap]
rs4571940	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs4655250	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655251	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655252	0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655253	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655254	0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655255	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655256	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655258	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655259	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655347	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655348	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655349	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4655350	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4655351	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4655352	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4655355	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5020616	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5020617	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540830	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs6540835	0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540838	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540839	0.84[CHB][hapmap]
rs6540841	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661786	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668440	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6671350	0.81[CEU][hapmap]
rs6676807	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6676956	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682627	1.00[CEU][hapmap]
rs6682847	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6682987	0.84[CHB][hapmap]
rs6684018	0.88[CEU][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs6685434	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6689084	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6691633	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518513	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525020	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7527320	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7528315	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7531610	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537274	0.84[CHB][hapmap]
rs7540188	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7540288	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555415	0.84[CHB][hapmap]

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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214645800-214666000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:214647200-214661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:214649200-214660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:214650200-214666000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:214650800-214660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:214650800-214662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:214651000-214666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:214651200-214664600	Weak transcription	Left Ventricle	heart
12	chr1:214651200-214665600	Weak transcription	NHLF	lung
13	chr1:214651200-214666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:214651200-214666400	Weak transcription	Adipose Nuclei	Adipose
15	chr1:214651600-214661400	Weak transcription	Fetal Heart	heart
16	chr1:214651800-214663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:214651800-214665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
19	chr1:214652000-214665800	Weak transcription	NHDF-Ad	bronchial
20	chr1:214652000-214666000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:214652200-214664800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:214652600-214662000	Weak transcription	HUVEC	blood vessel
23	chr1:214654400-214677400	Weak transcription	Gastric	stomach
24	chr1:214656400-214660200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:214656600-214660200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:214656800-214664600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:214656800-214665800	Weak transcription	HMEC	breast
28	chr1:214656800-214667800	Weak transcription	A549	lung
29	chr1:214657400-214659800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:214657400-214660000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:214657600-214660000	Strong transcription	Osteobl	bone
32	chr1:214657600-214660200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:214657800-214659800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:214657800-214660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:214658000-214660400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:214658200-214662200	Weak transcription	Psoas Muscle	Psoas
37	chr1:214658400-214659600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:214658400-214660000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:214658400-214661200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:214658400-214661800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:214658400-214665000	Weak transcription	NH-A	brain
42	chr1:214658600-214659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:214658600-214660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:214658600-214668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:214658800-214666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:214658800-214667600	Weak transcription	HSMM	muscle
47	chr1:214659000-214659800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:214659000-214659800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:214659000-214659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:214659000-214661000	Weak transcription	NHEK	skin

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