Variant report

Variant	rs73619602
Chromosome Location	chr19:55741909-55741910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55741782-55741998	K562	blood:	n/a	n/a
2	POLR2A	chr19:55741857-55742117	K562	blood:	n/a	n/a
3	POLR2A	chr19:55741784-55742084	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:55741849-55742074	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:55741883-55742072	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:55736540-55744341	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55741862-55741912	AG09309	skin:	n/a
2	chr19:55741862-55741912	BE2_C	brain:	n/a
3	chr19:55741862-55741912	NH-A	brain:	n/a
4	chr19:55741862-55741912	HL-60	blood:	n/a
5	chr19:55741862-55741912	NB4	blood:	n/a
6	chr19:55741862-55741912	LNCaP	prostate:	n/a
7	chr19:55741862-55741912	MCF-7	breast:	n/a
8	chr19:55741862-55741912	Jurkat	blood:	n/a
9	chr19:55741862-55741912	ECC-1	luminal epithelium:	n/a
10	chr19:55741862-55741912	SK-N-MC	brain:	n/a
11	chr19:55741862-55741912	Hela-S3	cervix:	n/a
12	chr19:55741862-55741912	NHBE	bronchial:	n/a
13	chr19:55741862-55741912	PrEC	prostate:	n/a
14	chr19:55741862-55741912	MCF10A-Er-Src	breast:	n/a
15	chr19:55741862-55741912	AG10803	skin:	n/a
16	chr19:55741862-55741912	HMEC	breast:	n/a
17	chr19:55741862-55741912	A549	lung:	n/a
18	chr19:55741862-55741912	PFSK-1	brain:	n/a
19	chr19:55741862-55741912	Hepatocyte	liver:	n/a
20	chr19:55741862-55741912	GM12891	blood:	n/a
21	chr19:55741862-55741912	HRE	kidney:	n/a
22	chr19:55741862-55741912	HepG2	liver:	n/a
23	chr19:55741862-55741912	H1-hESC	embryonic stem cell:	embryo
24	chr19:55741862-55741912	HEEpiC	esophagus:	n/a
25	chr19:55741862-55741912	HIPEpiC	eye:	n/a
26	chr19:55741862-55741912	BJ	skin:	n/a
27	chr19:55741862-55741912	ProgFib	skin:	n/a
28	chr19:55741862-55741912	HEK293	kidney:	embryo
29	chr19:55741862-55741912	NT2-D1	testis:	n/a
30	chr19:55741862-55741912	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:55741862-55741912	Caco-2	colon:	n/a
32	chr19:55741862-55741912	GM06990	blood:	n/a
33	chr19:55741862-55741912	PANC-1	pancreas:	n/a
34	chr19:55741862-55741912	RPTEC	kidney:	n/a
35	chr19:55741862-55741912	AG04449	skin:	fetal
36	chr19:55741862-55741912	HCT-116	colon:	n/a
37	chr19:55741862-55741912	ovcar-3	ovarian:	n/a
38	chr19:55741862-55741912	CMK	blood:	n/a
39	chr19:55741862-55741912	U87	brain:	n/a
40	chr19:55741862-55741912	AoSMC	blood vessel:	n/a
41	chr19:55741862-55741912	HAEpiC	amniotic membrane:	n/a
42	chr19:55741862-55741912	SAEC	small airway:	n/a
43	chr19:55741862-55741912	HRCEpiC	kidney:	n/a
44	chr19:55741862-55741912	HCM	heart:	n/a
45	chr19:55741862-55741912	SK-N-SH_RA	brain:	n/a
46	chr19:55741862-55741912	K562	blood:	n/a
47	chr19:55741862-55741912	SK-N-SH	brain:	n/a
48	chr19:55741862-55741912	AG09319	gingival:	n/a
49	chr19:55741862-55741912	GM19239	blood:	n/a
50	chr19:55741862-55741912	NHDF-neo	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55690071..55692651-chr19:55739628..55742521,2	MCF-7	breast:
2	chr19:55741448..55743072-chr19:55751746..55753955,2	K562	blood:
3	chr19:55737210..55740229-chr19:55741126..55744249,3	MCF-7	breast:
4	chr19:55741858..55744474-chr19:55769196..55771554,2	K562	blood:
5	chr19:55739984..55744473-chr19:55744557..55749568,5	MCF-7	breast:
6	chr19:55726329..55730291-chr19:55739732..55743145,6	K562	blood:

No data

Variant related genes	Relation type
TMEM86B	TF binding region
ENSG00000266462	TF binding region
ENSG00000266462	CpG island
TMEM86B	CpG island
ENSG00000269808	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000180089	Chromatin interaction
ENSG00000129990	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17851414	1.00[AMR][1000 genomes]
rs59551167	1.00[AMR][1000 genomes]
rs60578937	1.00[AMR][1000 genomes]
rs7252420	1.00[AMR][1000 genomes]
rs73605127	1.00[AMR][1000 genomes]
rs73605140	1.00[AMR][1000 genomes]
rs73605148	1.00[AMR][1000 genomes]
rs73605165	1.00[AMR][1000 genomes]
rs73605195	1.00[AMR][1000 genomes]
rs73607029	1.00[AMR][1000 genomes]
rs73607052	1.00[AMR][1000 genomes]
rs73619590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621321	1.00[AMR][1000 genomes]
rs73621332	1.00[AMR][1000 genomes]
rs73621334	1.00[AMR][1000 genomes]
rs73621343	1.00[AMR][1000 genomes]
rs73621359	1.00[AMR][1000 genomes]
rs73621364	1.00[AMR][1000 genomes]
rs73621369	1.00[AMR][1000 genomes]
rs73621370	1.00[AMR][1000 genomes]
rs9676742	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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55728600-55742400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:55728800-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:55728800-55743800	Weak transcription	HSMM	muscle
4	chr19:55728800-55744000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:55728800-55745600	Weak transcription	HSMMtube	muscle
6	chr19:55728800-55747800	Weak transcription	Psoas Muscle	Psoas
7	chr19:55728800-55747800	Weak transcription	NH-A	brain
8	chr19:55729400-55744000	Weak transcription	NHDF-Ad	bronchial
9	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
10	chr19:55730800-55744000	Weak transcription	Fetal Kidney	kidney
11	chr19:55732800-55742200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:55732800-55742200	Weak transcription	Fetal Lung	lung
13	chr19:55733800-55742200	Weak transcription	HMEC	breast
14	chr19:55733800-55758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:55734000-55758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:55734200-55758400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr19:55734600-55759800	Strong transcription	Brain Anterior Caudate	brain
19	chr19:55734800-55758600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr19:55735000-55742600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
22	chr19:55735200-55742600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:55735200-55744600	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
25	chr19:55736800-55744400	Strong transcription	NHLF	lung
26	chr19:55736800-55760000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:55736800-55764200	Strong transcription	Dnd41	blood
28	chr19:55737000-55745000	Strong transcription	Colonic Mucosa	Colon
29	chr19:55737000-55746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:55737000-55758200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr19:55737000-55758200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:55737000-55758400	Strong transcription	Brain Substantia Nigra	brain
33	chr19:55737000-55758600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:55737000-55758800	Strong transcription	Placenta	Placenta
35	chr19:55737000-55759000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:55737000-55760000	Strong transcription	Brain Germinal Matrix	brain
37	chr19:55737000-55760600	Strong transcription	Primary T cells from cord blood	blood
38	chr19:55737200-55744200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr19:55737200-55758200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:55737200-55758400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:55737200-55758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:55737200-55758400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:55737200-55758800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr19:55737200-55759200	Strong transcription	Brain Hippocampus Middle	brain
45	chr19:55737200-55759800	Strong transcription	Lung	lung
46	chr19:55737400-55742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:55737400-55742400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:55737400-55758600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:55737400-55758600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:55737400-55758600	Strong transcription	Fetal Muscle Leg	muscle

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