Variant report

Variant	rs71213274
Chromosome Location	chr1:63034492-63034493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10081226	0.82[EUR][1000 genomes]
rs10081265	0.82[EUR][1000 genomes]
rs10081266	0.83[EUR][1000 genomes]
rs10081290	0.82[EUR][1000 genomes]
rs10081375	0.82[EUR][1000 genomes]
rs1011721	0.82[EUR][1000 genomes]
rs1011722	0.82[EUR][1000 genomes]
rs1011723	0.82[EUR][1000 genomes]
rs1021080	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10227119	0.82[EUR][1000 genomes]
rs10231355	0.82[EUR][1000 genomes]
rs10231491	0.80[EUR][1000 genomes]
rs10231818	0.82[EUR][1000 genomes]
rs10239507	0.82[EUR][1000 genomes]
rs10243479	0.82[EUR][1000 genomes]
rs10243992	0.81[EUR][1000 genomes]
rs10252072	0.82[EUR][1000 genomes]
rs10252579	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10252798	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10255638	0.82[EUR][1000 genomes]
rs10257712	0.82[EUR][1000 genomes]
rs10264288	0.82[EUR][1000 genomes]
rs1026837	0.83[ASN][1000 genomes]
rs1026839	0.83[ASN][1000 genomes]
rs10272889	0.82[EUR][1000 genomes]
rs10274820	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10279816	0.82[EUR][1000 genomes]
rs10280341	0.82[EUR][1000 genomes]
rs10500098	0.83[ASN][1000 genomes]
rs10954050	0.82[EUR][1000 genomes]
rs10954051	0.82[EUR][1000 genomes]
rs10954056	0.82[EUR][1000 genomes]
rs10954062	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11763920	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767649	0.84[ASN][1000 genomes]
rs11767737	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11769711	0.82[EUR][1000 genomes]
rs11981797	0.82[EUR][1000 genomes]
rs12111658	0.82[EUR][1000 genomes]
rs12111660	0.82[EUR][1000 genomes]
rs12112909	0.82[EUR][1000 genomes]
rs12534466	0.83[ASN][1000 genomes]
rs12536146	0.82[EUR][1000 genomes]
rs12538641	0.82[EUR][1000 genomes]
rs12706629	0.82[EUR][1000 genomes]
rs13231916	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13240043	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13240512	0.82[EUR][1000 genomes]
rs13307657	0.82[EUR][1000 genomes]
rs1351471	0.83[ASN][1000 genomes]
rs1383751	0.81[EUR][1000 genomes]
rs1481328	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1481329	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1481331	0.82[EUR][1000 genomes]
rs1481332	0.82[EUR][1000 genomes]
rs1481337	0.83[ASN][1000 genomes]
rs1481340	0.82[EUR][1000 genomes]
rs1481343	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1531715	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1531716	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552119	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552120	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1600738	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1600739	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1600740	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1600743	0.82[EUR][1000 genomes]
rs1600745	0.82[EUR][1000 genomes]
rs1600746	0.82[EUR][1000 genomes]
rs1842615	0.80[EUR][1000 genomes]
rs1842616	0.82[EUR][1000 genomes]
rs1871770	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1994022	0.82[EUR][1000 genomes]
rs1994023	0.82[EUR][1000 genomes]
rs2017928	0.82[ASN][1000 genomes]
rs2127971	0.82[EUR][1000 genomes]
rs2170353	0.82[EUR][1000 genomes]
rs2219953	0.83[ASN][1000 genomes]
rs2402756	0.82[EUR][1000 genomes]
rs2402762	0.82[EUR][1000 genomes]
rs28491035	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28807101	0.82[EUR][1000 genomes]
rs28817916	0.82[EUR][1000 genomes]
rs28820311	0.82[EUR][1000 genomes]
rs34630567	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34865746	0.83[ASN][1000 genomes]
rs3900363	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3903521	0.83[ASN][1000 genomes]
rs3903522	0.83[ASN][1000 genomes]
rs3903523	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4461840	0.82[EUR][1000 genomes]
rs6466963	0.82[EUR][1000 genomes]
rs6466964	0.82[EUR][1000 genomes]
rs6466965	0.81[EUR][1000 genomes]
rs6466966	0.82[EUR][1000 genomes]
rs6466967	0.82[EUR][1000 genomes]
rs6466968	0.82[EUR][1000 genomes]
rs6466969	0.82[EUR][1000 genomes]
rs6466970	0.82[EUR][1000 genomes]
rs6466971	0.81[EUR][1000 genomes]
rs6466972	0.82[EUR][1000 genomes]
rs6466982	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6466990	0.80[ASN][1000 genomes]
rs6945951	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6954614	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6964090	0.83[ASN][1000 genomes]
rs6971413	0.82[EUR][1000 genomes]
rs719972	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7776821	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7777126	0.82[EUR][1000 genomes]
rs7779594	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7780392	0.82[EUR][1000 genomes]
rs7782410	0.82[EUR][1000 genomes]
rs7786384	0.82[EUR][1000 genomes]
rs7787025	0.82[EUR][1000 genomes]
rs7787765	0.82[EUR][1000 genomes]
rs7788066	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7788458	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7790975	0.82[EUR][1000 genomes]
rs7791399	0.82[EUR][1000 genomes]
rs7795199	0.82[EUR][1000 genomes]
rs7795218	0.82[EUR][1000 genomes]
rs7795233	0.82[EUR][1000 genomes]
rs7795605	0.82[EUR][1000 genomes]
rs7795611	0.82[EUR][1000 genomes]
rs7795934	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7799518	0.82[EUR][1000 genomes]
rs7799523	0.82[EUR][1000 genomes]
rs7799535	0.82[EUR][1000 genomes]
rs7802007	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7802210	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7806126	0.82[EUR][1000 genomes]
rs900047	0.82[ASN][1000 genomes]
rs9332427	0.82[EUR][1000 genomes]
rs9691875	0.82[ASN][1000 genomes]
rs9692367	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
2	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
4	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
5	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:62958200-63061000	Weak transcription	Lung	lung
7	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:63000200-63037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:63003000-63037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:63003200-63045200	Weak transcription	Gastric	stomach
12	chr1:63005400-63037400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:63005400-63037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:63005600-63050200	Weak transcription	NHLF	lung
15	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
17	chr1:63007600-63040400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:63007800-63037400	Weak transcription	Left Ventricle	heart
19	chr1:63007800-63040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:63008400-63038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:63008400-63053200	Weak transcription	Osteobl	bone
22	chr1:63008600-63037400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:63009600-63037800	Weak transcription	HSMM	muscle
24	chr1:63010800-63078400	Weak transcription	A549	lung
25	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:63018000-63051200	Weak transcription	Colonic Mucosa	Colon
27	chr1:63019800-63052400	Weak transcription	HMEC	breast
28	chr1:63021600-63037400	Weak transcription	Ovary	ovary
29	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
31	chr1:63021800-63037800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:63021800-63038000	Weak transcription	Dnd41	blood
33	chr1:63021800-63038600	Weak transcription	NHDF-Ad	bronchial
34	chr1:63024400-63053200	Weak transcription	NH-A	brain
35	chr1:63025000-63043600	Weak transcription	Thymus	Thymus
36	chr1:63025800-63038200	Weak transcription	Psoas Muscle	Psoas
37	chr1:63026000-63037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:63026400-63052200	Weak transcription	Primary B cells from cord blood	blood
39	chr1:63026400-63053400	Weak transcription	Primary T cells from cord blood	blood
40	chr1:63026800-63037000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:63026800-63037400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:63026800-63037800	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:63026800-63050200	Weak transcription	HSMMtube	muscle
44	chr1:63027000-63036200	Weak transcription	Fetal Kidney	kidney
45	chr1:63027000-63037400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:63027000-63039000	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:63027000-63040800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:63027000-63051400	Weak transcription	Placenta	Placenta
49	chr1:63027200-63039800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:63027200-63050400	Weak transcription	Muscle Satellite Cultured Cells	--

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