Variant report

Variant	rs179775
Chromosome Location	chr19:53075023-53075024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52583726..52585349-chr19:53074729..53076869,2	K562	blood:
2	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:

Variant related genes	Relation type
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs162826	0.84[EUR][1000 genomes]
rs162829	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162831	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162833	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162834	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs510234	0.82[EUR][1000 genomes]
rs7359947	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
2	chr19:53073000-53077800	ZNF genes & repeats	Lung	lung
3	chr19:53074200-53075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:53074200-53075400	Weak transcription	Gastric	stomach
5	chr19:53074200-53075400	Weak transcription	HSMM	muscle
6	chr19:53074200-53075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:53074200-53075800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr19:53074200-53075800	Weak transcription	Ovary	ovary
9	chr19:53074200-53075800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:53074200-53076400	Weak transcription	Aorta	Aorta
11	chr19:53074200-53076800	Weak transcription	Brain Angular Gyrus	brain
12	chr19:53074200-53077200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:53074200-53079200	Weak transcription	Brain Substantia Nigra	brain
14	chr19:53074200-53079400	Weak transcription	Psoas Muscle	Psoas
15	chr19:53074200-53080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:53074200-53083600	Weak transcription	NH-A	brain
17	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:53074400-53075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:53074400-53075200	Weak transcription	Fetal Intestine Small	intestine
20	chr19:53074400-53075200	Flanking Active TSS	Dnd41	blood
21	chr19:53074400-53075400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:53074400-53075600	Weak transcription	Fetal Intestine Large	intestine
23	chr19:53074400-53075600	Weak transcription	HSMMtube	muscle
24	chr19:53074400-53075800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:53074400-53075800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:53074400-53075800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:53074400-53075800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:53074400-53075800	Weak transcription	Fetal Stomach	stomach
29	chr19:53074400-53075800	Weak transcription	Osteobl	bone
30	chr19:53074400-53077400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:53074400-53077400	Weak transcription	HMEC	breast
32	chr19:53074400-53079200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:53074400-53079600	Weak transcription	HUVEC	blood vessel
34	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:53074600-53075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:53074600-53075200	Weak transcription	Spleen	Spleen
37	chr19:53074600-53075400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:53074600-53075400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr19:53074600-53075400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:53074600-53075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:53074600-53075400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:53074600-53075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:53074600-53075400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:53074600-53075400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr19:53074600-53075600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:53074600-53075600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:53074600-53075600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:53074600-53075600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:53074600-53075600	Weak transcription	Primary T cells from cord blood	blood
50	chr19:53074600-53075600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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