Variant report

Variant	rs60193080
Chromosome Location	chr19:37805833-37805834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37804999-37806109	K562	blood:	n/a	n/a

Variant related genes	Relation type
HKR1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55850607	0.94[AFR][1000 genomes]
rs56235955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58167874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58968599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60035707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3520361	chr19:37745067-37811325	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3520362	chr19:37745067-37811325	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
5	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37804000-37807200	Weak transcription	Fetal Intestine Large	intestine
2	chr19:37804000-37807200	Weak transcription	Placenta	Placenta
3	chr19:37804000-37807600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:37804000-37807600	Weak transcription	Right Ventricle	heart
5	chr19:37804200-37806200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:37804200-37806400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:37804200-37807000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:37804200-37807200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:37804200-37807600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:37804200-37807600	Weak transcription	Fetal Stomach	stomach
11	chr19:37804200-37807800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:37804200-37807800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:37804200-37807800	Weak transcription	Primary B cells from cord blood	blood
14	chr19:37804200-37807800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:37804200-37807800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:37804200-37807800	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:37804200-37807800	Weak transcription	Colonic Mucosa	Colon
18	chr19:37804200-37807800	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:37804200-37807800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:37804200-37807800	Weak transcription	Osteobl	bone
21	chr19:37804400-37806000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:37804400-37806200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:37804400-37807600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:37804400-37807600	Weak transcription	Primary T cells from cord blood	blood
25	chr19:37804400-37807600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:37804400-37807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:37804400-37807600	Weak transcription	Adipose Nuclei	Adipose
28	chr19:37804400-37807600	Weak transcription	Left Ventricle	heart
29	chr19:37804400-37807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:37804400-37807800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:37804400-37807800	Weak transcription	Fetal Brain Female	brain
32	chr19:37804400-37807800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:37804400-37807800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:37804400-37807800	Weak transcription	Right Atrium	heart
35	chr19:37804400-37807800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:37804400-37808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:37804400-37808200	Weak transcription	Brain Anterior Caudate	brain
38	chr19:37804400-37808200	Weak transcription	Brain Substantia Nigra	brain
39	chr19:37804400-37808200	Weak transcription	Stomach Mucosa	stomach
40	chr19:37804600-37806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:37804600-37806600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:37804600-37807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:37804600-37807600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:37804600-37807600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr19:37804600-37807800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:37804600-37807800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:37804600-37807800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:37804600-37807800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr19:37804600-37807800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:37804600-37807800	Weak transcription	Lung	lung

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