Variant report

Variant	rs73482580
Chromosome Location	chr6:71198148-71198149
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71122464..71124155-chr6:71195553..71199266,3	K562	blood:
2	chr6:71195612..71198430-chr6:71216312..71218280,2	K562	blood:

Variant related genes	Relation type
ENSG00000082269	Chromatin interaction
ENSG00000224349	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10485118	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10485119	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11965656	0.87[ASN][1000 genomes]
rs1208480	0.87[ASN][1000 genomes]
rs12526827	0.87[ASN][1000 genomes]
rs12528866	0.87[ASN][1000 genomes]
rs16869211	0.89[AMR][1000 genomes]
rs16869221	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16869228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16869238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16869243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16869244	0.89[AMR][1000 genomes]
rs16869267	0.87[ASN][1000 genomes]
rs16869273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16869338	1.00[AMR][1000 genomes]
rs16880770	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1739338	0.83[ASN][1000 genomes]
rs2273210	0.87[ASN][1000 genomes]
rs2346890	0.83[ASN][1000 genomes]
rs2639291	0.87[ASN][1000 genomes]
rs2639293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2747702	0.83[ASN][1000 genomes]
rs3736751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763252	0.90[AMR][1000 genomes]
rs3846750	0.83[ASN][1000 genomes]
rs3889007	0.83[ASN][1000 genomes]
rs55990553	0.87[ASN][1000 genomes]
rs57219733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57343016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57435529	0.89[AMR][1000 genomes]
rs57563851	0.96[AMR][1000 genomes]
rs57731996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58377462	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58691499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59268472	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59275635	0.87[ASN][1000 genomes]
rs59372712	0.89[AMR][1000 genomes]
rs59635844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59698166	0.87[ASN][1000 genomes]
rs59760243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61223738	0.87[ASN][1000 genomes]
rs61479468	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68006110	0.84[AFR][1000 genomes]
rs6900840	0.87[ASN][1000 genomes]
rs6901904	0.87[ASN][1000 genomes]
rs6902773	0.83[ASN][1000 genomes]
rs6902797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6906572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6906592	0.87[ASN][1000 genomes]
rs6910177	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6910903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911812	0.87[ASN][1000 genomes]
rs6914298	0.87[ASN][1000 genomes]
rs6917368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6918393	0.87[ASN][1000 genomes]
rs6919794	0.87[ASN][1000 genomes]
rs6922680	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6926591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6930397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933784	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6936018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6939478	1.00[AMR][1000 genomes]
rs6939814	1.00[AMR][1000 genomes]
rs73474966	0.83[ASN][1000 genomes]
rs73474967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73474971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73474974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73474986	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73474996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73474998	0.87[ASN][1000 genomes]
rs73476866	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73476886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73476890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73476892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73476897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73476899	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73476900	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73476902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73478808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73478819	0.87[ASN][1000 genomes]
rs73480261	1.00[AMR][1000 genomes]
rs73480271	1.00[AMR][1000 genomes]
rs73482553	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73482554	0.87[ASN][1000 genomes]
rs73482557	0.87[ASN][1000 genomes]
rs73482566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73482583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73482585	0.87[ASN][1000 genomes]
rs73482601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73484507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73485115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485152	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489063	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489067	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489092	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490322	0.89[AMR][1000 genomes]
rs73490323	0.86[AMR][1000 genomes]
rs7741187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752409	0.87[ASN][1000 genomes]
rs7753355	0.83[ASN][1000 genomes]
rs7759464	0.83[ASN][1000 genomes]
rs7765110	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7766075	0.83[ASN][1000 genomes]
rs7767109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7775962	0.83[ASN][1000 genomes]
rs9294868	0.83[ASN][1000 genomes]
rs9294871	0.87[ASN][1000 genomes]
rs9294872	0.87[ASN][1000 genomes]
rs9446245	0.83[ASN][1000 genomes]
rs9446248	0.83[ASN][1000 genomes]
rs9446252	0.87[ASN][1000 genomes]
rs9446258	0.83[ASN][1000 genomes]
rs9455094	0.83[ASN][1000 genomes]
rs9455100	0.83[ASN][1000 genomes]
rs9455104	0.83[ASN][1000 genomes]
rs9455105	0.83[ASN][1000 genomes]
rs9455113	0.87[ASN][1000 genomes]
rs9455114	0.87[ASN][1000 genomes]
rs9455121	0.87[ASN][1000 genomes]
rs9455130	0.87[ASN][1000 genomes]
rs9455132	0.83[ASN][1000 genomes]
rs9455167	0.90[AMR][1000 genomes]
rs9455176	0.83[AMR][1000 genomes]
rs9455178	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71134000-71213400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:71136800-71213600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:71158200-71212400	Weak transcription	Fetal Brain Male	brain
4	chr6:71158400-71213600	Weak transcription	NHEK	skin
5	chr6:71158800-71212600	Weak transcription	Colonic Mucosa	Colon
6	chr6:71178000-71210400	Weak transcription	Lung	lung
7	chr6:71180400-71212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:71180800-71200000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:71181600-71213600	Weak transcription	HMEC	breast
10	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
12	chr6:71184000-71212800	Weak transcription	A549	lung
13	chr6:71184200-71199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:71184400-71199800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:71184400-71210400	Weak transcription	Fetal Stomach	stomach
16	chr6:71184600-71199400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:71184600-71209600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:71184600-71210600	Weak transcription	Esophagus	oesophagus
19	chr6:71184600-71213400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:71185200-71213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:71185800-71212600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:71185800-71212800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:71186000-71210400	Weak transcription	Aorta	Aorta
24	chr6:71187200-71212400	Weak transcription	Fetal Kidney	kidney
25	chr6:71187200-71212800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:71187400-71198200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:71187400-71199400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:71187400-71202400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:71187400-71210800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:71187400-71211200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:71187400-71212400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:71187400-71212400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:71187400-71212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:71187400-71212800	Weak transcription	Right Ventricle	heart
35	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
36	chr6:71187800-71211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:71187800-71212400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:71188000-71198800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:71188200-71212800	Weak transcription	HepG2	liver
40	chr6:71188400-71212200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:71189200-71212600	Weak transcription	Fetal Heart	heart
42	chr6:71189400-71200800	Weak transcription	HSMM	muscle
43	chr6:71189400-71210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:71189800-71209400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:71190000-71213400	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:71190400-71204800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:71191200-71216000	Weak transcription	Gastric	stomach
48	chr6:71191800-71198200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:71192000-71206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:71192000-71210800	Weak transcription	Adipose Nuclei	Adipose

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