Variant report

Variant	rs56836606
Chromosome Location	chr19:37016491-37016492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37016297..37018434-chr19:37262581..37265198,2	K562	blood:

Variant related genes	Relation type
ENSG00000267041	Chromatin interaction
ENSG00000267260	Chromatin interaction

Extended variants
information (count: 41 )
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]
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]
rs60132516	1.00[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:7 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36999200-37018000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36999800-37017400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:37000000-37017000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37000000-37017800	ZNF genes & repeats	Liver	Liver
5	chr19:37001000-37018000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37001400-37017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37001600-37018200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37002600-37018000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:37002800-37016800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr19:37003200-37016800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:37003200-37017000	ZNF genes & repeats	Fetal Lung	lung
12	chr19:37003200-37018000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr19:37003400-37016800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr19:37003400-37017000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr19:37003400-37017200	ZNF genes & repeats	Dnd41	blood
16	chr19:37003400-37017400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr19:37003800-37017000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:37003800-37018200	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr19:37003800-37018600	ZNF genes & repeats	A549	lung
20	chr19:37004600-37016600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr19:37004600-37017400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:37004800-37016600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:37005000-37016800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr19:37008600-37017800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:37008600-37017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:37009000-37018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:37009200-37017800	Weak transcription	Right Ventricle	heart
28	chr19:37009400-37018400	Weak transcription	Stomach Mucosa	stomach
29	chr19:37010000-37016600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:37010000-37017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:37010400-37017400	Weak transcription	Fetal Heart	heart
32	chr19:37011000-37016800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr19:37011200-37016600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:37011200-37017600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:37011400-37016600	ZNF genes & repeats	Ovary	ovary
36	chr19:37011400-37016600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr19:37011400-37018200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:37011600-37017200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:37012000-37018400	Weak transcription	Gastric	stomach
40	chr19:37012400-37017600	Weak transcription	Hela-S3	cervix
41	chr19:37012600-37017000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:37013400-37016600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr19:37013400-37018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:37013600-37018000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr19:37013800-37017400	Weak transcription	HepG2	liver
46	chr19:37014200-37016600	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr19:37014200-37017000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:37014200-37017800	Weak transcription	Brain Anterior Caudate	brain
49	chr19:37014200-37017800	Weak transcription	Pancreas	Pancrea
50	chr19:37014400-37017800	Weak transcription	H9 Cell Line	embryonic stem cell

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