Variant report

Variant	rs58596145
Chromosome Location	chr19:21208512-21208513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21203226..21204874-chr19:21207837..21209473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118620	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57555291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57712708	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58599396	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59317841	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59499960	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59555483	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59900403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59926071	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60366360	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs60467794	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60878533	0.93[EUR][1000 genomes]
rs61744905	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73926912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926914	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926923	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926925	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8113520	0.93[AFR][1000 genomes];1.00[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204200-21210600	Weak transcription	Fetal Heart	heart
2	chr19:21204200-21224400	Weak transcription	Liver	Liver
3	chr19:21204200-21230400	Weak transcription	Gastric	stomach
4	chr19:21204400-21210800	Weak transcription	Brain Substantia Nigra	brain
5	chr19:21204400-21213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:21204400-21213400	Weak transcription	Esophagus	oesophagus
7	chr19:21204400-21213800	Weak transcription	Psoas Muscle	Psoas
8	chr19:21204400-21224000	Weak transcription	Aorta	Aorta
9	chr19:21204400-21224400	Weak transcription	Pancreas	Pancrea
10	chr19:21204400-21227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:21204400-21229200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
13	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
14	chr19:21204600-21211000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:21204600-21227800	Weak transcription	Brain Angular Gyrus	brain
16	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:21205000-21210000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:21205000-21213200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:21205400-21209400	Strong transcription	Fetal Stomach	stomach
20	chr19:21205400-21211200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr19:21205400-21211600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:21205400-21211600	Strong transcription	Fetal Intestine Large	intestine
23	chr19:21205400-21222800	Weak transcription	Fetal Brain Male	brain
24	chr19:21205600-21208600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr19:21205600-21209200	Strong transcription	Placenta	Placenta
26	chr19:21205600-21210200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:21205600-21211000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:21205600-21211000	Strong transcription	Brain Germinal Matrix	brain
29	chr19:21205600-21211200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr19:21205600-21211800	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:21205600-21219200	Weak transcription	Small Intestine	intestine
32	chr19:21205800-21209400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr19:21205800-21210200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:21205800-21210800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr19:21205800-21211200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:21205800-21213800	Weak transcription	Ovary	ovary
37	chr19:21205800-21216800	Weak transcription	HepG2	liver
38	chr19:21206000-21208600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:21206000-21208600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:21206000-21210600	Weak transcription	HSMMtube	muscle
41	chr19:21206000-21212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:21206000-21212400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:21206200-21209200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:21206200-21209200	Genic enhancers	Dnd41	blood
45	chr19:21206200-21209800	Weak transcription	K562	blood
46	chr19:21206200-21210600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr19:21206200-21210800	Weak transcription	NH-A	brain
48	chr19:21206200-21211200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr19:21206200-21211800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:21206200-21217000	Weak transcription	Fetal Lung	lung

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