Variant report

Variant	rs2016598
Chromosome Location	chr19:38141758-38141759
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	chr19:38131156..38133498-chr19:38141254..38142957,2	MCF-7	breast:
2	chr19:38139680..38143169-chr19:38144520..38148177,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2385119	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2016598	HKR1	cis	Whole Blood	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38124600-38142000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:38124800-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38125600-38143200	ZNF genes & repeats	A549	lung
5	chr19:38126200-38143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
7	chr19:38130400-38142200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr19:38133600-38142000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:38133800-38142000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:38134200-38144600	Weak transcription	NHLF	lung
11	chr19:38134400-38145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:38134400-38145000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:38135000-38144200	Weak transcription	Fetal Heart	heart
14	chr19:38135800-38144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:38137000-38142000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr19:38137200-38144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:38138400-38145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:38138600-38143200	Weak transcription	Fetal Brain Male	brain
19	chr19:38138600-38144000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:38138600-38144600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:38138600-38144600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:38138600-38144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:38138600-38144800	Weak transcription	Right Ventricle	heart
24	chr19:38138800-38144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:38138800-38144200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr19:38138800-38144600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:38138800-38144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:38138800-38144600	Weak transcription	Fetal Kidney	kidney
29	chr19:38138800-38144600	Weak transcription	HSMMtube	muscle
30	chr19:38138800-38144600	Weak transcription	K562	blood
31	chr19:38139000-38143800	Weak transcription	Psoas Muscle	Psoas
32	chr19:38139000-38144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:38139000-38144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:38139000-38144600	Weak transcription	Stomach Mucosa	stomach
35	chr19:38139000-38144600	Weak transcription	NHEK	skin
36	chr19:38139000-38144800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:38139000-38145200	Weak transcription	Placenta	Placenta
38	chr19:38139200-38144000	Weak transcription	HepG2	liver
39	chr19:38139200-38144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:38139200-38144400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:38139200-38144400	Weak transcription	HUVEC	blood vessel
42	chr19:38139200-38144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:38139200-38144600	Weak transcription	Brain Angular Gyrus	brain
44	chr19:38139200-38144600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:38139200-38144600	Weak transcription	Brain Substantia Nigra	brain
46	chr19:38139200-38144600	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:38139200-38144600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:38139200-38144600	Weak transcription	Thymus	Thymus
49	chr19:38139200-38144800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:38139200-38144800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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