Variant report

Variant	rs200373
Chromosome Location	chr19:18286546-18286547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18286313..18288338-chr19:18390930..18393715,2	K562	blood:
2	chr19:18283035..18288338-chr19:18301660..18307351,8	K562	blood:
3	chr19:18270258..18275351-chr19:18277257..18287386,21	K562	blood:
4	chr19:18282952..18288338-chr19:18301660..18306832,7	K562	blood:
5	chr19:18285361..18288338-chr19:18390930..18392881,2	K562	blood:

Variant related genes	Relation type
ENSG00000105647	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs200378	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200380	0.94[ASN][1000 genomes]
rs200383	0.93[ASN][1000 genomes]
rs4808759	0.93[ASN][1000 genomes]
rs7125	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	31 gene(s)	inside rSNPs	diseases
9	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
17	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
20	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
21	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18284200-18286600	Flanking Active TSS	Placenta	Placenta
2	chr19:18284400-18286600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:18285000-18290200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
4	chr19:18285200-18288400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:18285200-18288800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
6	chr19:18285200-18289600	Weak transcription	Small Intestine	intestine
7	chr19:18285400-18286600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:18285400-18286600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr19:18285400-18296200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:18285600-18286600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:18285600-18286600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:18285600-18286600	Enhancers	Esophagus	oesophagus
13	chr19:18285600-18287400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:18285600-18288000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:18285600-18289000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:18285600-18291800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:18285800-18286600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
18	chr19:18285800-18286600	Transcr. at gene 5' and 3'	Lung	lung
19	chr19:18285800-18286800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:18285800-18287400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:18286000-18286600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
22	chr19:18286000-18286600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
23	chr19:18286000-18286600	Bivalent Enhancer	Fetal Thymus	thymus
24	chr19:18286000-18287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:18286000-18287200	Weak transcription	NHEK	skin
26	chr19:18286000-18287400	Weak transcription	NHDF-Ad	bronchial
27	chr19:18286000-18290200	Weak transcription	Osteobl	bone
28	chr19:18286000-18291200	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:18286200-18286600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:18286200-18286600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:18286200-18286600	Active TSS	Liver	Liver
32	chr19:18286200-18286600	Genic enhancers	Fetal Intestine Small	intestine
33	chr19:18286200-18286600	Genic enhancers	Gastric	stomach
34	chr19:18286200-18286600	Enhancers	HepG2	liver
35	chr19:18286200-18286600	Genic enhancers	K562	blood
36	chr19:18286200-18287200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18286200-18287200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:18286200-18287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:18286200-18288800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:18286200-18290600	Weak transcription	Pancreas	Pancrea
41	chr19:18286200-18290800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:18286200-18292200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:18286200-18292400	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:18286200-18294200	Weak transcription	Stomach Mucosa	stomach
45	chr19:18286400-18286600	Active TSS	Adipose Nuclei	Adipose
46	chr19:18286400-18286600	Enhancers	Duodenum Mucosa	Duodenum
47	chr19:18286400-18286600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:18286400-18286600	Active TSS	Hela-S3	cervix
49	chr19:18286400-18287400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:18286400-18287400	Weak transcription	Colonic Mucosa	Colon

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