Variant report

Variant	rs74101458
Chromosome Location	chr1:93667865-93667866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93646277..93649734-chr1:93664673..93670683,6	K562	blood:
2	chr1:93558661..93560672-chr1:93667735..93669821,2	K562	blood:
3	chr1:93646277..93650015-chr1:93666888..93670680,4	K562	blood:
4	chr1:93650348..93652669-chr1:93667602..93669955,2	K562	blood:

Variant related genes	Relation type
ENSG00000117500	Chromatin interaction
ENSG00000122483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10489733	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1057256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11799543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11799928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11800760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801563	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11802420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11802421	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11802822	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805267	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807404	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11808445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12239183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28829343	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3171	0.82[ASN][1000 genomes]
rs41528947	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55734759	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55738503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56401576	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56657492	1.00[ASN][1000 genomes]
rs58505360	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58770710	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58807475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59368083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59609847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60079850	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60497651	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60813039	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61252284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61335636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61671588	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61690932	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61729705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541348	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541360	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6541398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6663752	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6664190	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6667540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675991	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677114	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6679304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679630	0.82[ASN][1000 genomes]
rs6688199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6689867	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695142	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6701683	0.82[ASN][1000 genomes]
rs6704067	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72955402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72957210	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957220	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72957300	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959245	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959267	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959273	0.82[ASN][1000 genomes]
rs72961310	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72961322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72961328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74101470	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74104014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104019	1.00[EUR][1000 genomes]
rs7512471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7518171	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7518930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7527459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7529230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533526	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7537939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7540960	0.82[ASN][1000 genomes]
rs7544352	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7545154	1.00[EUR][1000 genomes]
rs7545358	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7548629	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754899	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8489	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8561	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9324347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9662414	0.91[AMR][1000 genomes];0.82[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	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93647000-93756400	Weak transcription	Gastric	stomach
4	chr1:93647200-93668200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
6	chr1:93647200-93684400	Weak transcription	NH-A	brain
7	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:93647600-93670400	Weak transcription	Liver	Liver
11	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:93648400-93672200	Weak transcription	A549	lung
13	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:93651000-93684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:93651400-93678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
17	chr1:93654600-93708000	Weak transcription	Ovary	ovary
18	chr1:93655200-93674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:93656400-93668000	Weak transcription	Fetal Lung	lung
20	chr1:93656400-93686200	Weak transcription	Aorta	Aorta
21	chr1:93656800-93669000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:93657000-93682000	Strong transcription	Dnd41	blood
23	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
24	chr1:93658600-93668000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:93658600-93684800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:93658800-93684400	Weak transcription	Osteobl	bone
27	chr1:93660600-93671000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:93660600-93705200	Weak transcription	Lung	lung
29	chr1:93660800-93669400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:93660800-93685000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:93661000-93674200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:93661800-93702800	Weak transcription	Fetal Heart	heart
34	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
35	chr1:93663000-93673400	Weak transcription	Hela-S3	cervix
36	chr1:93663400-93669800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:93664000-93672800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:93664600-93669600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:93665000-93668400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:93665400-93684200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:93665400-93684400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:93665400-93685000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:93665400-93688800	Weak transcription	NHLF	lung
45	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
47	chr1:93665600-93669200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:93665600-93673800	Weak transcription	Thymus	Thymus
49	chr1:93665600-93683000	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:93665600-93697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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