Variant report

Variant	rs6946194
Chromosome Location	chr7:50839837-50839838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:
2	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
3	chr7:50824568..50827324-chr7:50838039..50840736,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1014384	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1019000	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10226937	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10231012	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10235345	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239268	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1024531	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10248029	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258458	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264904	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10273302	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10276986	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10281065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10464765	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464766	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10464790	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10486761	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238310	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238311	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238313	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11238315	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238325	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11238326	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11238337	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11238339	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11974751	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11978750	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11983539	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12668316	0.87[AMR][1000 genomes]
rs12671577	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674028	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718925	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718926	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718927	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718929	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12718930	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13232029	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1859571	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051895	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2051896	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074719	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074720	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074721	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074722	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074777	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2108349	0.84[AMR][1000 genomes]
rs2158670	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286152	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286154	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329554	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2876846	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801000	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6593164	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593173	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593174	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593180	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6943153	0.86[AMR][1000 genomes]
rs6943901	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6945597	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951356	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6957007	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958750	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960912	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963498	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6966774	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967612	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6971834	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6976572	0.86[AFR][1000 genomes]
rs6979369	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs734422	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757773	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757774	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757777	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785908	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785914	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786917	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788511	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793570	0.87[AMR][1000 genomes]
rs7802338	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7803278	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7809623	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7809775	0.86[AMR][1000 genomes]
rs886700	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
7	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:50829800-50849400	Weak transcription	Osteobl	bone
10	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
12	chr7:50833200-50850200	Weak transcription	HSMM	muscle
13	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
14	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:50834800-50840000	Enhancers	Pancreas	Pancrea
16	chr7:50834800-50840000	Enhancers	Right Ventricle	heart
17	chr7:50834800-50840200	Enhancers	Liver	Liver
18	chr7:50834800-50840200	Enhancers	Psoas Muscle	Psoas
19	chr7:50835200-50847800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:50835200-50848200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:50835200-50849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:50835400-50843000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:50835400-50843000	Weak transcription	Esophagus	oesophagus
24	chr7:50835400-50846000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:50835400-50848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:50835400-50849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:50835600-50842400	Weak transcription	Hela-S3	cervix
28	chr7:50835600-50847600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:50835800-50841000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:50835800-50849800	Weak transcription	HUVEC	blood vessel
31	chr7:50836000-50849000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:50836200-50840200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:50836800-50847400	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:50837400-50840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:50837800-50842200	Weak transcription	Spleen	Spleen
36	chr7:50837800-50843200	Weak transcription	Fetal Stomach	stomach
37	chr7:50837800-50849800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:50838000-50840200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:50838000-50843000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:50838000-50843200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:50838000-50850200	Weak transcription	HSMMtube	muscle
42	chr7:50838200-50840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:50838200-50843400	Weak transcription	A549	lung
44	chr7:50838200-50843400	Weak transcription	K562	blood
45	chr7:50838200-50847200	Weak transcription	Brain Substantia Nigra	brain
46	chr7:50838400-50848400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:50838400-50849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:50838800-50840200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:50838800-50842000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:50838800-50849400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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