Variant report

Variant	rs2074721
Chromosome Location	chr7:50834583-50834584
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
2	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
3	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1014384	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1019000	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10226937	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10231012	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10235345	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239268	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1024531	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10248029	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258458	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10264904	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268643	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273302	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10276986	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10281065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10464765	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10464766	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10464790	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10486761	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238311	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238313	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11238325	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11238326	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11238337	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11238339	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11974751	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11978750	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11983539	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12668316	0.86[AMR][1000 genomes]
rs12671577	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12674028	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12718925	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12718926	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12718927	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12718929	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12718930	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13232029	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859571	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051895	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051896	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2074719	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074720	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074777	0.87[AMR][1000 genomes]
rs2108349	0.85[AMR][1000 genomes]
rs2158670	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286152	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286154	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329554	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876846	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801000	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6593164	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593174	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593180	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6943153	0.87[AMR][1000 genomes]
rs6943901	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6945597	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946194	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6951356	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6957007	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6958750	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960912	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6963498	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966774	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6967612	0.87[AMR][1000 genomes]
rs6971834	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6979369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs734422	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757773	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757774	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757777	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7786917	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788511	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793570	0.88[AMR][1000 genomes]
rs7802338	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7803278	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7809623	0.87[AMR][1000 genomes]
rs7809775	0.85[AMR][1000 genomes]
rs886700	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
2	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:50822200-50835000	Weak transcription	Esophagus	oesophagus
9	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:50823600-50834800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:50823600-50834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
14	chr7:50823800-50834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:50824400-50834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:50824800-50836400	Weak transcription	NH-A	brain
18	chr7:50826000-50839000	Weak transcription	Ovary	ovary
19	chr7:50826400-50836200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:50828000-50834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50828800-50837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
24	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:50829800-50849400	Weak transcription	Osteobl	bone
26	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
28	chr7:50830600-50834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:50830600-50834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:50830600-50835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:50831800-50837200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:50832000-50834800	Weak transcription	Spleen	Spleen
33	chr7:50832200-50834800	Weak transcription	Gastric	stomach
34	chr7:50832400-50834800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:50832400-50834800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:50832400-50834800	Weak transcription	Lung	lung
37	chr7:50832400-50834800	Weak transcription	Psoas Muscle	Psoas
38	chr7:50832400-50834800	Weak transcription	Right Atrium	heart
39	chr7:50832400-50835200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:50832400-50837200	Weak transcription	Fetal Stomach	stomach
41	chr7:50832600-50834800	Weak transcription	Pancreas	Pancrea
42	chr7:50832600-50834800	Weak transcription	Right Ventricle	heart
43	chr7:50833000-50834600	Enhancers	Stomach Mucosa	stomach
44	chr7:50833200-50835400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:50833200-50850200	Weak transcription	HSMM	muscle
46	chr7:50833400-50834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:50833400-50835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:50833400-50835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:50833400-50837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain

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