Variant report

Variant	rs8104138
Chromosome Location	chr19:53075519-53075520
allele	G/T
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:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10460183	0.90[ASN][1000 genomes]
rs11670566	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670795	0.81[ASN][1000 genomes]
rs6509652	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71358886	0.90[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:121 , 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	chr19:53074200-53075600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:53074200-53075800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:53074200-53075800	Weak transcription	Ovary	ovary
6	chr19:53074200-53075800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:53074200-53076400	Weak transcription	Aorta	Aorta
8	chr19:53074200-53076800	Weak transcription	Brain Angular Gyrus	brain
9	chr19:53074200-53077200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:53074200-53079200	Weak transcription	Brain Substantia Nigra	brain
11	chr19:53074200-53079400	Weak transcription	Psoas Muscle	Psoas
12	chr19:53074200-53080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:53074200-53083600	Weak transcription	NH-A	brain
14	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:53074400-53075600	Weak transcription	Fetal Intestine Large	intestine
16	chr19:53074400-53075600	Weak transcription	HSMMtube	muscle
17	chr19:53074400-53075800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:53074400-53075800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:53074400-53075800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:53074400-53075800	Weak transcription	Brain Anterior Caudate	brain
21	chr19:53074400-53075800	Weak transcription	Fetal Stomach	stomach
22	chr19:53074400-53075800	Weak transcription	Osteobl	bone
23	chr19:53074400-53077400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:53074400-53077400	Weak transcription	HMEC	breast
25	chr19:53074400-53079200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:53074400-53079600	Weak transcription	HUVEC	blood vessel
27	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr19:53074600-53075600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:53074600-53075600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:53074600-53075600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:53074600-53075600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:53074600-53075600	Weak transcription	Primary T cells from cord blood	blood
33	chr19:53074600-53075600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:53074600-53075600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:53074600-53075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:53074600-53075600	Weak transcription	Fetal Brain Female	brain
37	chr19:53074600-53075600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:53074600-53075600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:53074600-53075800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:53074600-53075800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:53074600-53075800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:53074600-53075800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:53074600-53075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:53074600-53075800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:53074600-53075800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:53074600-53075800	Weak transcription	Adipose Nuclei	Adipose
47	chr19:53074600-53075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:53074600-53075800	Weak transcription	Left Ventricle	heart
49	chr19:53074600-53075800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:53074600-53075800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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