Variant report

Variant	rs73005418
Chromosome Location	chr19:18400328-18400329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr19:18399793-18400552	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:18400253-18400337	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
2	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
3	chr19:18399345..18407720-chr19:18430417..18436364,18	MCF-7	breast:
4	chr19:18397948..18402412-chr19:18484415..18487037,3	K562	blood:
5	chr19:18314868..18317000-chr19:18398723..18400388,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL39P38	TF binding region
ENSG00000105649	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000268650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10419232	0.84[EUR][1000 genomes]
rs11880673	0.84[AFR][1000 genomes]
rs41374444	0.82[AMR][1000 genomes]
rs41446250	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56123634	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57734410	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57934386	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58997823	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59783649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60235938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7254443	0.85[AFR][1000 genomes]
rs8103073	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
6	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
7	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
8	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
9	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
10	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
11	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
12	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
13	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18393800-18401000	Weak transcription	Thymus	Thymus
2	chr19:18393800-18401200	Weak transcription	Right Atrium	heart
3	chr19:18393800-18402000	Weak transcription	Aorta	Aorta
4	chr19:18394000-18400400	Weak transcription	Dnd41	blood
5	chr19:18394000-18400600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:18394000-18400800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:18394000-18401200	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:18394000-18401400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:18394000-18401400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:18394000-18402000	Weak transcription	Brain Anterior Caudate	brain
11	chr19:18394000-18402800	Weak transcription	Gastric	stomach
12	chr19:18394400-18400400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr19:18394400-18400600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:18394400-18400800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:18394400-18401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:18394400-18402000	Weak transcription	Pancreas	Pancrea
17	chr19:18394400-18402000	Weak transcription	Right Ventricle	heart
18	chr19:18394600-18400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:18394600-18402200	Weak transcription	Psoas Muscle	Psoas
20	chr19:18395800-18400600	Weak transcription	Lung	lung
21	chr19:18395800-18400600	Weak transcription	Spleen	Spleen
22	chr19:18396000-18400600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:18396000-18401000	Weak transcription	Colonic Mucosa	Colon
24	chr19:18396000-18402600	Weak transcription	Small Intestine	intestine
25	chr19:18396200-18401000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:18396200-18402600	Weak transcription	Liver	Liver
27	chr19:18396400-18400400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:18396400-18400400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:18396400-18400600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:18396400-18400800	Weak transcription	Adipose Nuclei	Adipose
31	chr19:18396400-18401400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:18396600-18400600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:18397000-18400600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:18397600-18400600	Weak transcription	K562	blood
35	chr19:18397800-18400600	Weak transcription	Ovary	ovary
36	chr19:18397800-18400800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:18397800-18400800	Weak transcription	Osteobl	bone
38	chr19:18397800-18401000	Weak transcription	HSMM	muscle
39	chr19:18397800-18401000	Weak transcription	NHLF	lung
40	chr19:18397800-18401400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:18397800-18402000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:18397800-18402000	Weak transcription	HSMMtube	muscle
43	chr19:18397800-18402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:18398000-18401000	Weak transcription	Hela-S3	cervix
45	chr19:18398000-18401000	Weak transcription	NHDF-Ad	bronchial
46	chr19:18398200-18401000	Weak transcription	Esophagus	oesophagus
47	chr19:18398400-18401000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18398400-18402200	Enhancers	Fetal Thymus	thymus
49	chr19:18398600-18400800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:18398800-18400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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