Variant report

Variant	rs73003090
Chromosome Location	chr19:19019800-19019801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19005474..19008347-chr19:19018316..19020974,2	MCF-7	breast:
2	chr19:19003756..19013137-chr19:19015458..19020402,12	K562	blood:
3	chr19:19017910..19020342-chr19:19048888..19050940,2	K562	blood:
4	chr19:19017449..19020202-chr19:19023767..19026462,3	K562	blood:
5	chr19:19014514..19025012-chr19:19028545..19031608,12	MCF-7	breast:
6	chr19:19019766..19023523-chr19:19026658..19029850,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX49-1	chr19:19019595-19020282	ENSG00000248819

No data

Variant related genes	Relation type
ENSG00000105669	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000051128	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10330	0.91[EUR][1000 genomes]
rs2106660	0.85[EUR][1000 genomes]
rs2158004	0.85[EUR][1000 genomes]
rs2231993	0.85[EUR][1000 genomes]
rs45596337	1.00[AFR][1000 genomes]
rs55988241	0.94[EUR][1000 genomes]
rs7250615	0.99[EUR][1000 genomes]
rs73003017	1.00[AFR][1000 genomes]
rs73003085	0.93[EUR][1000 genomes]
rs73003087	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv817819	chr19:19009470-19022204	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
2	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
3	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:19007400-19025400	Weak transcription	NH-A	brain
5	chr19:19007400-19026000	Weak transcription	A549	lung
6	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
8	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:19009600-19022200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:19009600-19022600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:19009600-19022600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr19:19009600-19026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:19009600-19026400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:19009600-19026800	Strong transcription	Fetal Brain Female	brain
19	chr19:19009600-19029200	Weak transcription	Psoas Muscle	Psoas
20	chr19:19009800-19020400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:19009800-19022600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:19009800-19022600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr19:19009800-19026800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:19009800-19026800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr19:19009800-19026800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:19009800-19026800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr19:19009800-19028000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:19010000-19022200	Strong transcription	Pancreas	Pancrea
29	chr19:19010000-19022400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:19010000-19022600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:19010000-19026800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:19010000-19026800	Strong transcription	Fetal Intestine Small	intestine
33	chr19:19010000-19026800	Strong transcription	Placenta	Placenta
34	chr19:19010200-19026200	Strong transcription	Liver	Liver
35	chr19:19010200-19026200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr19:19010200-19026600	Weak transcription	Hela-S3	cervix
37	chr19:19010400-19022200	Strong transcription	Ovary	ovary
38	chr19:19010600-19022000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:19010600-19026400	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:19010800-19026400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:19011000-19024400	Strong transcription	Fetal Lung	lung
42	chr19:19012600-19020800	Weak transcription	Primary B cells from cord blood	blood
43	chr19:19012600-19021800	Weak transcription	K562	blood
44	chr19:19012600-19028000	Strong transcription	Fetal Stomach	stomach
45	chr19:19013400-19020200	Strong transcription	Aorta	Aorta
46	chr19:19013400-19021800	Strong transcription	Gastric	stomach
47	chr19:19013400-19022400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:19013400-19022400	Strong transcription	Esophagus	oesophagus
49	chr19:19013400-19022400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:19013400-19023800	Strong transcription	Spleen	Spleen

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