Variant report

Variant	rs60132516
Chromosome Location	chr19:37025538-37025539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37017700..37019947-chr19:37023301..37025958,2	K562	blood:
2	chr19:37024321..37026162-chr19:37046669..37049079,2	K562	blood:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55885724	1.00[AFR][1000 genomes]
rs55981753	1.00[AFR][1000 genomes]
rs56836606	1.00[AFR][1000 genomes]
rs57422489	1.00[AFR][1000 genomes]
rs57586526	1.00[AFR][1000 genomes]
rs57678022	1.00[AFR][1000 genomes]
rs58078073	1.00[AFR][1000 genomes]
rs58361065	0.83[AFR][1000 genomes]
rs58403474	1.00[AFR][1000 genomes]
rs59329149	0.83[AFR][1000 genomes]
rs60808598	1.00[AFR][1000 genomes]
rs61082544	1.00[AFR][1000 genomes]
rs61481244	1.00[AFR][1000 genomes]
rs73929009	1.00[AFR][1000 genomes]
rs73929011	1.00[AFR][1000 genomes]
rs73929123	1.00[AFR][1000 genomes]
rs73929124	1.00[AFR][1000 genomes]
rs73929127	1.00[AFR][1000 genomes]
rs73929170	1.00[AFR][1000 genomes]
rs73929171	1.00[AFR][1000 genomes]
rs73929178	1.00[AFR][1000 genomes]
rs73931028	1.00[AFR][1000 genomes]
rs73931029	1.00[AFR][1000 genomes]
rs73931030	1.00[AFR][1000 genomes]
rs73931036	1.00[AFR][1000 genomes]
rs73931037	1.00[AFR][1000 genomes]
rs73931038	1.00[AFR][1000 genomes]
rs73931040	1.00[AFR][1000 genomes]
rs73931626	1.00[AFR][1000 genomes]
rs73931627	1.00[AFR][1000 genomes]
rs73931629	1.00[AFR][1000 genomes]
rs73931634	1.00[AFR][1000 genomes]
rs73931636	1.00[AFR][1000 genomes]
rs73931639	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37020400-37025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:37020400-37025600	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:37020400-37025800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:37020400-37025800	Weak transcription	Fetal Kidney	kidney
5	chr19:37020400-37025800	Weak transcription	Stomach Mucosa	stomach
6	chr19:37020400-37025800	Weak transcription	HSMM	muscle
7	chr19:37020400-37025800	Weak transcription	HSMMtube	muscle
8	chr19:37020400-37026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:37020400-37034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:37020600-37025600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:37020600-37025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:37020600-37025800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:37020600-37025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:37020600-37025800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:37020600-37025800	Weak transcription	Placenta	Placenta
16	chr19:37020600-37025800	Weak transcription	Right Ventricle	heart
17	chr19:37020600-37027600	Weak transcription	Hela-S3	cervix
18	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
19	chr19:37021600-37030000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:37023200-37027000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:37023200-37031800	ZNF genes & repeats	A549	lung
24	chr19:37023200-37032600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:37023400-37030000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr19:37023400-37030200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
32	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
33	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:37023800-37033000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
39	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:37024000-37027000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr19:37024000-37030600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:37024200-37025600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:37024200-37025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:37024200-37025800	Weak transcription	Pancreas	Pancrea
45	chr19:37024200-37026000	Weak transcription	Esophagus	oesophagus
46	chr19:37024400-37026200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr19:37024600-37026600	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr19:37024600-37027000	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr19:37024800-37025600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:37024800-37025600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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