Variant report

Variant	rs73014844
Chromosome Location	chr19:21215727-21215728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21215243..21217384-chr19:21265595..21267237,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.93[EUR][1000 genomes]
rs10413841	0.90[EUR][1000 genomes]
rs10416447	0.93[EUR][1000 genomes]
rs10425841	0.98[EUR][1000 genomes]
rs11085427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11085429	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12052091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12150909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12151107	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17618418	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2358793	1.00[EUR][1000 genomes]
rs3919641	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3937493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4580323	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61733856	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66693308	0.95[EUR][1000 genomes]
rs73012909	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73012916	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73012919	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73012925	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73012931	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73012943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73014828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73014838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73014852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73018974	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73018975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73018978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73019002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020608	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020625	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020628	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020631	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020636	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020644	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020654	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73020661	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73022623	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73022624	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73022630	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73022634	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73022639	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73022640	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73022648	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73022667	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024637	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024645	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024647	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024648	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024655	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024657	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024662	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024665	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73024668	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024670	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024671	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024674	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024675	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024685	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73024688	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73026655	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73026661	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73026662	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73026693	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21224400	Weak transcription	Liver	Liver
2	chr19:21204200-21230400	Weak transcription	Gastric	stomach
3	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
4	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
5	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
8	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
9	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:21205400-21222800	Weak transcription	Fetal Brain Male	brain
12	chr19:21205600-21219200	Weak transcription	Small Intestine	intestine
13	chr19:21205800-21216800	Weak transcription	HepG2	liver
14	chr19:21206200-21217000	Weak transcription	Fetal Lung	lung
15	chr19:21206200-21218000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:21206200-21218000	Weak transcription	NHLF	lung
17	chr19:21206200-21223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:21206200-21223600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:21206200-21226600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:21206400-21220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:21207200-21216800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:21207200-21219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:21207200-21222800	Weak transcription	Fetal Kidney	kidney
25	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
26	chr19:21207400-21224200	Weak transcription	Spleen	Spleen
27	chr19:21207400-21226600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:21208400-21216200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:21208400-21216800	Weak transcription	NHDF-Ad	bronchial
30	chr19:21208600-21216000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:21208600-21221200	Weak transcription	Fetal Intestine Small	intestine
32	chr19:21208600-21223000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:21208600-21230000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:21209400-21217000	Weak transcription	Fetal Stomach	stomach
36	chr19:21209400-21221400	Weak transcription	Fetal Brain Female	brain
37	chr19:21210200-21215800	Weak transcription	NHEK	skin
38	chr19:21210200-21216200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:21210200-21216800	Weak transcription	Placenta	Placenta
40	chr19:21210200-21232200	Weak transcription	K562	blood
41	chr19:21211000-21217600	Weak transcription	Brain Germinal Matrix	brain
42	chr19:21211200-21216600	Weak transcription	HMEC	breast
43	chr19:21211200-21216800	Weak transcription	Brain Anterior Caudate	brain
44	chr19:21211200-21216800	Weak transcription	NH-A	brain
45	chr19:21211200-21220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:21211400-21216800	Weak transcription	HSMMtube	muscle
47	chr19:21211400-21217200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:21211400-21218400	Weak transcription	Stomach Mucosa	stomach
49	chr19:21211400-21219400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr19:21211400-21221800	Weak transcription	Fetal Muscle Trunk	muscle

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