Variant report

Variant	rs73066627
Chromosome Location	chr19:55671730-55671731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:55671616-55671736	K562	blood:	n/a	n/a
2	RAD21	chr19:55671693-55672448	SK-N-SH	brain:	n/a	chr19:55671960-55671969
3	ZMIZ1	chr19:55671652-55672249	K562	blood:	n/a	n/a
4	MXI1	chr19:55671445-55672353	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr19:55671660-55672300	K562	blood:	n/a	n/a
6	MAX	chr19:55671691-55672443	A549	lung:	n/a	n/a
7	CTCF	chr19:55671669-55672417	HCT-116	colon:	n/a	n/a
8	MYC	chr19:55671597-55672263	K562	blood:	n/a	n/a
9	MYC	chr19:55671569-55672276	K562	blood:	n/a	n/a
10	MYC	chr19:55671465-55672301	K562	blood:	n/a	n/a
11	SIN3AK20	chr19:55671417-55671786	K562	blood:	n/a	n/a
12	MAX	chr19:55671359-55672503	HCT-116	colon:	n/a	n/a
13	HCFC1	chr19:55671601-55672360	Hela-S3	cervix:	n/a	n/a
14	ZNF263	chr19:55671611-55672289	HEK293-T-REx	kidney:	n/a	chr19:55672030-55672051
15	POLR2A	chr19:55671441-55672269	K562	blood:	n/a	n/a
16	MAX	chr19:55671509-55671788	K562	blood:	n/a	n/a
17	MAX	chr19:55671655-55672282	Hela-S3	cervix:	n/a	n/a
18	TBL1XR1	chr19:55671616-55672186	K562	blood:	n/a	n/a
19	UBTF	chr19:55671628-55672235	K562	blood:	n/a	n/a
20	SMC3	chr19:55671712-55672321	Hela-S3	cervix:	n/a	n/a
21	MAX	chr19:55671378-55672353	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:55671426-55672696	A549	lung:	n/a	n/a
23	RAD21	chr19:55671663-55672478	HCT-116	colon:	n/a	chr19:55671960-55671969
24	JUN	chr19:55669767-55672364	K562	blood:	n/a	chr19:55672186-55672195
25	CTCF	chr19:55671459-55672495	SK-N-SH	brain:	n/a	n/a
26	RCOR1	chr19:55671607-55672263	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr19:55671518-55672485	HCT-116	colon:	n/a	chr19:55671960-55671969
28	MAX	chr19:55671291-55672314	K562	blood:	n/a	n/a
29	MXI1	chr19:55671607-55672250	K562	blood:	n/a	n/a
30	MYC	chr19:55671627-55672419	A549	lung:	n/a	n/a
31	TBP	chr19:55671532-55672197	K562	blood:	n/a	n/a
32	CTCF	chr19:55671600-55671750	WI-38	lung:	n/a	n/a
33	SMC3	chr19:55671392-55672538	SK-N-SH	brain:	n/a	n/a
34	RAD21	chr19:55671700-55672444	A549	lung:	n/a	chr19:55671960-55671969
35	RCOR1	chr19:55671617-55672325	K562	blood:	n/a	n/a
36	USF1	chr19:55671446-55671759	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55669739..55671839-chr19:55895942..55898733,2	K562	blood:
2	chr19:55670339..55672194-chr19:55895106..55898791,3	K562	blood:
3	chr19:55650102..55652468-chr19:55670117..55672433,2	K562	blood:
4	chr19:55656068..55658188-chr19:55669727..55672257,4	K562	blood:
5	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
6	chr19:55657215..55657931-chr19:55671632..55672517,3	K562	blood:
7	chr19:55669904..55673815-chr19:55917688..55921815,5	K562	blood:
8	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
9	chr19:55657176..55657861-chr19:55671612..55672279,3	MCF-7	breast:
10	chr19:55670803..55672973-chr19:55678461..55680015,2	MCF-7	breast:
11	chr19:55669094..55672573-chr19:55676633..55678240,3	K562	blood:
12	chr19:55590282..55593983-chr19:55668450..55672239,5	K562	blood:
13	chr19:55573018..55574580-chr19:55668896..55671784,2	K562	blood:
14	chr19:55652274..55653243-chr19:55671651..55672648,4	K562	blood:
15	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
16	chr19:55657720..55659447-chr19:55670409..55672561,2	MCF-7	breast:
17	chr19:55670813..55674787-chr19:55917654..55919984,3	MCF-7	breast:
18	chr19:55656783..55658511-chr19:55670096..55672623,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNNI3	TF binding region
ENSG00000108106	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000239137	Chromatin interaction
ENSG00000129990	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12104158	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13343639	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3375469	chr19:55671705-55672069	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55668600-55672000	Weak transcription	Pancreas	Pancrea
2	chr19:55669000-55672000	Weak transcription	Spleen	Spleen
3	chr19:55669000-55672800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr19:55669200-55672200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:55669200-55672800	Enhancers	Fetal Heart	heart
6	chr19:55669600-55672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:55669600-55673400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr19:55669800-55672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:55669800-55672400	Enhancers	A549	lung
10	chr19:55670000-55672000	Flanking Active TSS	K562	blood
11	chr19:55670000-55672200	Flanking Active TSS	Hela-S3	cervix
12	chr19:55670000-55672400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:55670200-55671800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:55670200-55671800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:55670200-55672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr19:55670200-55672000	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:55670400-55671800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr19:55670400-55671800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr19:55670400-55671800	Enhancers	HSMMtube	muscle
20	chr19:55670400-55672000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:55670400-55672000	Enhancers	HMEC	breast
22	chr19:55670400-55672000	Flanking Active TSS	NHEK	skin
23	chr19:55670400-55672200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr19:55670400-55672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:55670400-55672400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr19:55670600-55671800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:55670600-55671800	Enhancers	HSMM	muscle
28	chr19:55670600-55672200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:55670600-55672200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:55670800-55672000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:55670800-55673800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr19:55671000-55673000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:55671400-55671800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:55671400-55671800	Enhancers	Esophagus	oesophagus
35	chr19:55671400-55672600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr19:55671600-55671800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr19:55671600-55671800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:55671600-55671800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr19:55671600-55671800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr19:55671600-55671800	Flanking Active TSS	Left Ventricle	heart
41	chr19:55671600-55671800	Bivalent Enhancer	NHDF-Ad	bronchial
42	chr19:55671600-55671800	Bivalent Enhancer	NHLF	lung
43	chr19:55671600-55672000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:55671600-55672000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr19:55671600-55672200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr19:55671600-55672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:55671600-55672200	Bivalent Enhancer	Fetal Thymus	thymus
48	chr19:55671600-55672200	Enhancers	Right Ventricle	heart
49	chr19:55671600-55672400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:55671600-55672600	Bivalent Enhancer	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links