Variant report

Variant	rs73625243
Chromosome Location	chr19:37571758-37571759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37571729-37571779	AG04450	lung:	fetal
2	chr19:37571729-37571779	HEK293	kidney:	embryo
3	chr19:37571729-37571779	ovcar-3	ovarian:	n/a
4	chr19:37571729-37571779	AG09309	skin:	n/a
5	chr19:37571729-37571779	HEEpiC	esophagus:	n/a
6	chr19:37571729-37571779	NHDF-neo	bronchial:	n/a
7	chr19:37571729-37571779	HCT-116	colon:	n/a
8	chr19:37571729-37571779	NT2-D1	testis:	n/a
9	chr19:37571729-37571779	Jurkat	blood:	n/a
10	chr19:37571729-37571779	HCPEpiC	choroid plexus:	n/a
11	chr19:37571729-37571779	NB4	blood:	n/a
12	chr19:37571729-37571779	AG10803	skin:	n/a
13	chr19:37571729-37571779	HMEC	breast:	n/a
14	chr19:37571729-37571779	NHBE	bronchial:	n/a
15	chr19:37571729-37571779	HRE	kidney:	n/a
16	chr19:37571729-37571779	AoSMC	blood vessel:	n/a
17	chr19:37571729-37571779	MCF-7	breast:	n/a
18	chr19:37571729-37571779	PrEC	prostate:	n/a
19	chr19:37571729-37571779	GM12892	blood:	n/a
20	chr19:37571729-37571779	SK-N-SH	brain:	n/a
21	chr19:37571729-37571779	CMK	blood:	n/a
22	chr19:37571729-37571779	PANC-1	pancreas:	n/a
23	chr19:37571729-37571779	AG04449	skin:	fetal
24	chr19:37571729-37571779	SK-N-SH_RA	brain:	n/a
25	chr19:37571729-37571779	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:37571729-37571779	GM19239	blood:	n/a
27	chr19:37571729-37571779	H1-hESC	embryonic stem cell:	embryo
28	chr19:37571729-37571779	NH-A	brain:	n/a
29	chr19:37571729-37571779	ProgFib	skin:	n/a
30	chr19:37571729-37571779	BE2_C	brain:	n/a
31	chr19:37571729-37571779	Hela-S3	cervix:	n/a
32	chr19:37571729-37571779	Hepatocyte	liver:	n/a
33	chr19:37571729-37571779	U87	brain:	n/a
34	chr19:37571729-37571779	HAEpiC	amniotic membrane:	n/a
35	chr19:37571729-37571779	GM12878	blood:	n/a
36	chr19:37571729-37571779	ECC-1	luminal epithelium:	n/a
37	chr19:37571729-37571779	RPTEC	kidney:	n/a
38	chr19:37571729-37571779	SKMC	muscle:	n/a
39	chr19:37571729-37571779	HL-60	blood:	n/a
40	chr19:37571729-37571779	A549	lung:	n/a
41	chr19:37571729-37571779	BJ	skin:	n/a
42	chr19:37571729-37571779	HUVEC	blood vessel:	n/a
43	chr19:37571729-37571779	K562	blood:	n/a
44	chr19:37571729-37571779	GM06990	blood:	n/a
45	chr19:37571729-37571779	PFSK-1	brain:	n/a
46	chr19:37571729-37571779	HRPEpiC	eye:	n/a
47	chr19:37571729-37571779	GM12891	blood:	n/a
48	chr19:37571729-37571779	HepG2	liver:	n/a
49	chr19:37571729-37571779	SAEC	small airway:	n/a
50	chr19:37571729-37571779	T-47D	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000267345	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12459805	0.88[AFR][1000 genomes]
rs12459844	0.88[AFR][1000 genomes]
rs12460285	0.88[AFR][1000 genomes]
rs12460291	0.88[AFR][1000 genomes]
rs12461119	0.88[AFR][1000 genomes]
rs12461358	0.88[AFR][1000 genomes]
rs12461446	0.88[AFR][1000 genomes]
rs12461563	0.88[AFR][1000 genomes]
rs12461933	0.88[AFR][1000 genomes]
rs12463101	0.88[AFR][1000 genomes]
rs12463280	0.88[AFR][1000 genomes]
rs12463328	0.88[AFR][1000 genomes]
rs35692141	0.88[AFR][1000 genomes]
rs56717658	0.88[AFR][1000 genomes]
rs56745069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57080651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57231148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58378903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58948692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59043209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59447056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60096362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61354972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73614169	1.00[AMR][1000 genomes]
rs73614181	1.00[AMR][1000 genomes]
rs73618072	0.88[AFR][1000 genomes]
rs73618081	0.88[AFR][1000 genomes]
rs73618082	0.88[AFR][1000 genomes]
rs73618086	0.88[AFR][1000 genomes]
rs73618088	0.88[AFR][1000 genomes]
rs73618496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622716	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626561	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626588	0.88[AFR][1000 genomes]
rs73626597	0.88[AFR][1000 genomes]
rs73626600	0.88[AFR][1000 genomes]
rs73626748	1.00[AMR][1000 genomes]
rs73626755	1.00[AMR][1000 genomes]
rs73626758	1.00[AMR][1000 genomes]
rs73626762	1.00[AMR][1000 genomes]
rs73626765	1.00[AMR][1000 genomes]
rs73626768	1.00[AMR][1000 genomes]
rs73628736	1.00[AMR][1000 genomes]
rs73628740	1.00[AMR][1000 genomes]
rs73628744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37570000-37573000	Weak transcription	Aorta	Aorta
2	chr19:37570400-37572800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:37570400-37576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:37570600-37571800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr19:37570600-37572400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37570600-37572400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:37570600-37572600	Weak transcription	K562	blood
8	chr19:37570600-37572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:37570600-37572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:37570600-37572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:37570600-37572800	Weak transcription	Primary B cells from cord blood	blood
12	chr19:37570600-37572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:37570600-37572800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:37570600-37572800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:37570600-37572800	Weak transcription	Liver	Liver
16	chr19:37570600-37572800	Weak transcription	Brain Angular Gyrus	brain
17	chr19:37570600-37572800	Weak transcription	Brain Anterior Caudate	brain
18	chr19:37570600-37572800	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:37570600-37572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:37570600-37572800	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:37570600-37572800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:37570600-37572800	Weak transcription	Fetal Brain Male	brain
23	chr19:37570600-37572800	Weak transcription	Fetal Lung	lung
24	chr19:37570600-37572800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:37570600-37572800	Weak transcription	NHEK	skin
26	chr19:37570600-37573000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:37570600-37573000	Weak transcription	Left Ventricle	heart
28	chr19:37570600-37573000	Weak transcription	Lung	lung
29	chr19:37570600-37573000	Weak transcription	Pancreas	Pancrea
30	chr19:37570600-37573600	Weak transcription	Fetal Kidney	kidney
31	chr19:37570600-37574400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:37570600-37580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:37570600-37581000	Weak transcription	Gastric	stomach
34	chr19:37570600-37581600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:37570800-37572400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:37570800-37572600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:37570800-37572600	Weak transcription	Adipose Nuclei	Adipose
38	chr19:37570800-37572800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:37570800-37572800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:37570800-37573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:37570800-37573400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:37570800-37579800	Weak transcription	Hela-S3	cervix
43	chr19:37571000-37571800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr19:37571000-37572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:37571000-37573400	ZNF genes & repeats	Fetal Brain Female	brain
46	chr19:37571000-37580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:37571000-37594800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:37571200-37572200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:37571200-37572800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:37571200-37573600	Strong transcription	Ovary	ovary

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