Variant report

Variant	rs10407709
Chromosome Location	chr19:21205179-21205180
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	chr19:21204714..21207211-chr19:21209787..21213344,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10402206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406067	1.00[AMR][1000 genomes]
rs10406963	1.00[AMR][1000 genomes]
rs10409986	1.00[AMR][1000 genomes]
rs10410875	1.00[AMR][1000 genomes]
rs10413647	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10414113	1.00[AMR][1000 genomes]
rs10414275	1.00[AMR][1000 genomes]
rs10414637	1.00[AMR][1000 genomes]
rs10416560	1.00[AMR][1000 genomes]
rs10424510	1.00[AMR][1000 genomes]
rs10425744	1.00[AMR][1000 genomes]
rs10426896	1.00[AMR][1000 genomes]
rs11880192	1.00[AMR][1000 genomes]
rs11880228	1.00[AMR][1000 genomes]
rs12104385	1.00[AMR][1000 genomes]
rs13345915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670574	1.00[AMR][1000 genomes]
rs28780501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28840098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28861172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734283	1.00[AMR][1000 genomes]
rs62122571	1.00[AMR][1000 genomes]
rs73531817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548266	1.00[AFR][1000 genomes];1.00[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21203000-21205200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:21203000-21205400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:21203000-21205400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:21203000-21205400	Active TSS	GM12878-XiMat	blood
5	chr19:21203000-21205400	Active TSS	HSMMtube	muscle
6	chr19:21203000-21205600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:21203000-21206200	Active TSS	NHLF	lung
8	chr19:21204200-21208000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:21204200-21210600	Weak transcription	Fetal Heart	heart
10	chr19:21204200-21224400	Weak transcription	Liver	Liver
11	chr19:21204200-21230400	Weak transcription	Gastric	stomach
12	chr19:21204400-21205400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr19:21204400-21205400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:21204400-21205600	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:21204400-21205600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:21204400-21205600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:21204400-21205800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:21204400-21205800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:21204400-21206600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:21204400-21206600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:21204400-21206800	Weak transcription	Left Ventricle	heart
22	chr19:21204400-21207200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:21204400-21208200	Weak transcription	Lung	lung
24	chr19:21204400-21210800	Weak transcription	Brain Substantia Nigra	brain
25	chr19:21204400-21213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:21204400-21213400	Weak transcription	Esophagus	oesophagus
27	chr19:21204400-21213800	Weak transcription	Psoas Muscle	Psoas
28	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
29	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
30	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
33	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
34	chr19:21204600-21205200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:21204600-21205200	Enhancers	Adipose Nuclei	Adipose
36	chr19:21204600-21205200	Enhancers	Right Atrium	heart
37	chr19:21204600-21205200	Weak transcription	NHDF-Ad	bronchial
38	chr19:21204600-21205400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr19:21204600-21205400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:21204600-21205400	Enhancers	Primary hematopoietic stem cells	blood
41	chr19:21204600-21205400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr19:21204600-21205400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr19:21204600-21205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:21204600-21205400	Enhancers	Fetal Brain Male	brain
45	chr19:21204600-21205400	Weak transcription	Fetal Intestine Large	intestine
46	chr19:21204600-21205400	Genic enhancers	Fetal Stomach	stomach
47	chr19:21204600-21205400	Weak transcription	A549	lung
48	chr19:21204600-21205400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr19:21204600-21205400	Weak transcription	NH-A	brain
50	chr19:21204600-21205600	Weak transcription	HUVEC	blood vessel

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