Variant report

Variant	rs61418834
Chromosome Location	chr19:19639903-19639904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19637478..19643205-chr19:19752988..19755970,5	MCF-7	breast:
2	chr19:19625745..19628806-chr19:19639215..19643547,5	K562	blood:
3	chr19:19636166..19641062-chr19:19772143..19775843,4	MCF-7	breast:
4	chr19:19625980..19628021-chr19:19638084..19640231,2	K562	blood:

Variant related genes	Relation type
ENSG00000105726	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000089639	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	1.00[AMR][1000 genomes]
rs60542032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537224	0.93[AFR][1000 genomes]
rs73537243	0.85[AFR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv911307	chr19:19631655-19657143	Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911308	chr19:19631655-19663850	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1807343	chr19:19639345-19669570	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19628000-19640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19628200-19642800	Weak transcription	Stomach Mucosa	stomach
3	chr19:19628200-19643000	Weak transcription	HUVEC	blood vessel
4	chr19:19628400-19640800	Weak transcription	HMEC	breast
5	chr19:19628400-19642800	Weak transcription	Hela-S3	cervix
6	chr19:19629000-19643600	Weak transcription	Small Intestine	intestine
7	chr19:19630400-19643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:19630600-19642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:19630600-19651800	Weak transcription	A549	lung
10	chr19:19630800-19642800	Weak transcription	NHEK	skin
11	chr19:19630800-19643000	Weak transcription	NHDF-Ad	bronchial
12	chr19:19631000-19647800	Weak transcription	HSMMtube	muscle
13	chr19:19632000-19640800	Weak transcription	HSMM	muscle
14	chr19:19633600-19640800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:19633800-19640600	Strong transcription	Liver	Liver
16	chr19:19633800-19641000	Strong transcription	Thymus	Thymus
17	chr19:19634000-19643000	Strong transcription	Fetal Intestine Small	intestine
18	chr19:19634200-19640200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr19:19634200-19641000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:19634400-19640600	Strong transcription	Lung	lung
21	chr19:19634400-19640800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:19634400-19643000	Weak transcription	K562	blood
23	chr19:19634600-19640800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:19634800-19640600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr19:19634800-19640800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:19634800-19641000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:19634800-19641000	Strong transcription	Gastric	stomach
28	chr19:19634800-19641000	Strong transcription	Dnd41	blood
29	chr19:19634800-19642000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:19635000-19640400	Strong transcription	Colonic Mucosa	Colon
31	chr19:19635000-19640600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr19:19635000-19640800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:19635200-19649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:19635400-19640600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19635800-19640400	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr19:19635800-19641000	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr19:19636000-19642000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19636000-19642400	Strong transcription	Primary T cells from cord blood	blood
39	chr19:19636200-19640600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:19636600-19640400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:19636600-19640400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:19636800-19640600	Strong transcription	Adipose Nuclei	Adipose
43	chr19:19636800-19640800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:19636800-19641800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:19636800-19643000	Weak transcription	Right Atrium	heart
46	chr19:19637000-19640600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:19637000-19640600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr19:19637200-19640200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:19637800-19640000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:19637800-19640200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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