Variant report

Variant	rs62109190
Chromosome Location	chr19:37804125-37804126
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	MXI1	chr19:37803030-37804356	SK-N-SH	brain:	n/a	chr19:37803672-37803687 chr19:37803882-37803891
2	HA-E2F1	chr19:37803483-37804135	MCF-7	breast:	n/a	chr19:37804103-37804112 chr19:37803873-37803885

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HKR1-1	chr19:37803780-37804214	NONHSAT066099

Variant related genes	Relation type
HKR1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62109241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62110075	1.00[AFR][1000 genomes]
rs62110076	1.00[AFR][1000 genomes]
rs62110078	1.00[AFR][1000 genomes]
rs62110396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62110437	1.00[AFR][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	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	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37803000-37804200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:37803000-37804200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37803000-37804200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37803000-37804200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:37803000-37804200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:37803000-37804200	Active TSS	Fetal Brain Female	brain
7	chr19:37803000-37804200	Active TSS	Fetal Kidney	kidney
8	chr19:37803000-37804400	Active TSS	HepG2	liver
9	chr19:37803000-37804600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:37803000-37804600	Enhancers	Fetal Brain Male	brain
11	chr19:37803000-37804800	Flanking Active TSS	Dnd41	blood
12	chr19:37803200-37804200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:37803200-37804200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:37803200-37804200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37803200-37804200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:37803200-37804200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:37803200-37804200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:37803200-37804200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:37803200-37804200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:37803200-37804200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:37803200-37804200	Active TSS	Brain Cingulate Gyrus	brain
22	chr19:37803200-37804200	Active TSS	Fetal Intestine Small	intestine
23	chr19:37803200-37804200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr19:37803200-37804400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:37803200-37804400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:37803200-37804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:37803200-37804400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:37803200-37804600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:37803400-37804200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:37803400-37804200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:37803400-37804200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:37803400-37804200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:37803400-37804200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:37803400-37804200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:37803400-37804200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:37803400-37804200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:37803400-37804200	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr19:37803400-37804200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:37803400-37804200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr19:37803400-37804200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr19:37803400-37804200	Active TSS	Aorta	Aorta
42	chr19:37803400-37804200	Active TSS	Colon Smooth Muscle	Colon
43	chr19:37803400-37804200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:37803400-37804200	Active TSS	Left Ventricle	heart
45	chr19:37803400-37804200	Active TSS	Ovary	ovary
46	chr19:37803400-37804200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:37803400-37804200	Active TSS	NHEK	skin
48	chr19:37803400-37804400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr19:37803400-37804400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:37803400-37804400	Active TSS	HSMMtube	muscle

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