Variant report

Variant	rs4514798
Chromosome Location	chr19:36979126-36979127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:36978905-36981196	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:36978942-36979130	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36969427..36971707-chr19:36977964..36979970,2	MCF-7	breast:
2	chr19:36704032..36706423-chr19:36978429..36980490,2	MCF-7	breast:
3	chr19:36704170..36706461-chr19:36978975..36980989,3	K562	blood:
4	chr19:36977340..36979938-chr19:37058785..37061352,2	K562	blood:
5	chr19:36977221..36979834-chr19:36983552..36985787,2	K562	blood:
6	chr19:36706883..36709067-chr19:36978381..36980309,2	K562	blood:
7	chr19:36867662..36870599-chr19:36976598..36980024,4	K562	blood:
8	chr19:36979124..36982554-chr19:37017679..37020247,4	MCF-7	breast:
9	chr19:36978237..36981071-chr19:36988174..36990152,2	K562	blood:
10	chr19:36978148..36981795-chr19:37018105..37021194,8	K562	blood:
11	chr19:36978821..36980790-chr19:37017858..37020685,3	K562	blood:
12	chr19:36868112..36870123-chr19:36976598..36979565,2	K562	blood:
13	chr19:36978237..36981428-chr19:36988174..36990245,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267309	TF binding region
ENSG00000266973	Chromatin interaction
ENSG00000167635	Chromatin interaction
ENSG00000196357	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000142065	Chromatin interaction
ENSG00000267091	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17707014	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17707021	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2891868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4806328	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4806333	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55743839	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55801623	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55830504	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55880628	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55933007	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56054915	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56075402	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56183102	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56246998	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6510549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7249099	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7259057	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73032465	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73032484	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73032489	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73032502	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73034109	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73049817	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73049826	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73049844	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73049851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73049853	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8100340	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8102097	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8103917	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8104893	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8105973	0.82[AFR][1000 genomes]
rs8110140	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8111192	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][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	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	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4514798	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36957200-36979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:36957400-36979400	Weak transcription	NH-A	brain
3	chr19:36960400-36979600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:36963400-36979200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:36964000-36979800	Weak transcription	Esophagus	oesophagus
6	chr19:36964200-36979200	Weak transcription	Stomach Mucosa	stomach
7	chr19:36964200-36979400	Weak transcription	Brain Anterior Caudate	brain
8	chr19:36964200-36979600	Weak transcription	Placenta	Placenta
9	chr19:36964200-36979600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:36964600-36979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:36964600-36979400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:36964800-36979600	Weak transcription	Fetal Kidney	kidney
13	chr19:36965400-36979200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:36966400-36979200	Weak transcription	Adipose Nuclei	Adipose
15	chr19:36966400-36979600	Weak transcription	HSMMtube	muscle
16	chr19:36966600-36979400	Weak transcription	Right Ventricle	heart
17	chr19:36967800-36979600	Weak transcription	Left Ventricle	heart
18	chr19:36970000-36979200	Weak transcription	HSMM	muscle
19	chr19:36970000-36979600	Weak transcription	Psoas Muscle	Psoas
20	chr19:36970000-36979600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:36970800-36979800	Weak transcription	Spleen	Spleen
22	chr19:36973200-36979200	Weak transcription	NHEK	skin
23	chr19:36973800-36979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:36974400-36979200	Weak transcription	Brain Substantia Nigra	brain
25	chr19:36974400-36979400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:36974400-36979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:36975200-36979200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:36975200-36979800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:36975400-36979800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:36975800-36979600	ZNF genes & repeats	A549	lung
31	chr19:36976400-36979600	Weak transcription	Thymus	Thymus
32	chr19:36977000-36979600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr19:36977000-36979800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:36977000-36979800	Weak transcription	Ovary	ovary
35	chr19:36977400-36979200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:36977400-36979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:36978000-36979200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr19:36978000-36979400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr19:36978000-36979600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr19:36978000-36979600	Enhancers	Stomach Smooth Muscle	stomach
41	chr19:36978200-36979200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:36978200-36979400	Enhancers	Brain Hippocampus Middle	brain
43	chr19:36978200-36979400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr19:36978200-36979600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:36978200-36979600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr19:36978200-36979600	Enhancers	Brain Angular Gyrus	brain
47	chr19:36978400-36979200	Enhancers	HepG2	liver
48	chr19:36978400-36979400	Enhancers	Primary T cells from cord blood	blood
49	chr19:36978400-36979400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:36978400-36981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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