Variant report

Variant	rs73617684
Chromosome Location	chr19:55660662-55660663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:183)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr19:55660441-55661039	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:55660642-55660957	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr19:55660426-55660734	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55660625-55660675	Hela-S3	cervix:	n/a
2	chr19:55660614-55660664	SK-N-MC	brain:	n/a
3	chr19:55660625-55660675	CMK	blood:	n/a
4	chr19:55660614-55660664	HRPEpiC	eye:	n/a
5	chr19:55660620-55660670	HepG2	liver:	n/a
6	chr19:55660614-55660664	HEEpiC	esophagus:	n/a
7	chr19:55660614-55660664	AG04449	skin:	fetal
8	chr19:55660625-55660675	HMEC	breast:	n/a
9	chr19:55660614-55660664	PANC-1	pancreas:	n/a
10	chr19:55660625-55660675	GM12892	blood:	n/a
11	chr19:55660620-55660670	CMK	blood:	n/a
12	chr19:55660625-55660675	AG10803	skin:	n/a
13	chr19:55660625-55660675	SKMC	muscle:	n/a
14	chr19:55660625-55660675	HRPEpiC	eye:	n/a
15	chr19:55660620-55660670	LNCaP	prostate:	n/a
16	chr19:55660614-55660664	T-47D	breast:	n/a
17	chr19:55660614-55660664	IMR90	lung:	fetal
18	chr19:55660614-55660664	HMEC	breast:	n/a
19	chr19:55660625-55660675	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:55660625-55660675	AG09319	gingival:	n/a
21	chr19:55660620-55660670	RPTEC	kidney:	n/a
22	chr19:55660614-55660664	GM12891	blood:	n/a
23	chr19:55660620-55660670	HCT-116	colon:	n/a
24	chr19:55660625-55660675	GM19239	blood:	n/a
25	chr19:55660625-55660675	Hepatocyte	liver:	n/a
26	chr19:55660625-55660675	NH-A	brain:	n/a
27	chr19:55660625-55660675	RPTEC	kidney:	n/a
28	chr19:55660625-55660675	HL-60	blood:	n/a
29	chr19:55660620-55660670	HEEpiC	esophagus:	n/a
30	chr19:55660620-55660670	AG04449	skin:	fetal
31	chr19:55660625-55660675	SAEC	small airway:	n/a
32	chr19:55660620-55660670	HL-60	blood:	n/a
33	chr19:55660625-55660675	AG09309	skin:	n/a
34	chr19:55660614-55660664	HRE	kidney:	n/a
35	chr19:55660625-55660675	NT2-D1	testis:	n/a
36	chr19:55660620-55660670	ECC-1	luminal epithelium:	n/a
37	chr19:55660620-55660670	GM19239	blood:	n/a
38	chr19:55660620-55660670	AG09319	gingival:	n/a
39	chr19:55660614-55660664	BJ	skin:	n/a
40	chr19:55660614-55660664	Caco-2	colon:	n/a
41	chr19:55660614-55660664	NT2-D1	testis:	n/a
42	chr19:55660625-55660675	MCF-7	breast:	n/a
43	chr19:55660614-55660664	GM06990	blood:	n/a
44	chr19:55660614-55660664	ECC-1	luminal epithelium:	n/a
45	chr19:55660625-55660675	HEK293	kidney:	embryo
46	chr19:55660625-55660675	HRCEpiC	kidney:	n/a
47	chr19:55660614-55660664	PFSK-1	brain:	n/a
48	chr19:55660620-55660670	Caco-2	colon:	n/a
49	chr19:55660614-55660664	A549	lung:	n/a
50	chr19:55660614-55660664	Hepatocyte	liver:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55591899..55594661-chr19:55659988..55661544,2	K562	blood:
2	chr19:55658330..55661734-chr19:55662329..55665982,4	MCF-7	breast:
3	chr19:55659384..55662186-chr19:55768928..55771825,2	K562	blood:
4	chr19:55658103..55660151-chr19:55660469..55663163,2	K562	blood:
5	chr19:55660000..55662027-chr19:55893629..55896601,2	MCF-7	breast:
6	chr19:55626891..55629240-chr19:55658482..55660842,2	MCF-7	breast:
7	chr19:55658387..55665037-chr19:55666866..55670836,8	K562	blood:

No data

Variant related genes	Relation type
TNNT1	TF binding region
TNNT1	CpG island
ENSG00000129991	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000267577	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73619544	1.00[AMR][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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55646400-55662400	Weak transcription	Right Atrium	heart
2	chr19:55657200-55661400	Active TSS	Psoas Muscle	Psoas
3	chr19:55657600-55661600	Enhancers	Fetal Heart	heart
4	chr19:55658000-55661000	Active TSS	HSMMtube	muscle
5	chr19:55658400-55660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:55658600-55661600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:55658600-55663000	Weak transcription	Right Ventricle	heart
8	chr19:55658800-55662000	Enhancers	A549	lung
9	chr19:55658800-55662600	Enhancers	K562	blood
10	chr19:55659200-55661400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr19:55659400-55660800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr19:55659600-55661000	Bivalent Enhancer	HepG2	liver
13	chr19:55659800-55661200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:55660200-55660800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:55660200-55660800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr19:55660200-55661000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:55660400-55660800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:55660400-55660800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:55660400-55660800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr19:55660400-55661000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:55660400-55661400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:55660400-55662000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:55660600-55660800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr19:55660600-55660800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr19:55660600-55660800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:55660600-55660800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:55660600-55660800	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr19:55660600-55660800	Enhancers	HSMM	muscle
29	chr19:55660600-55661000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:55660600-55661000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:55660600-55661200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:55660600-55661400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:55660600-55661600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr19:55660600-55662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:55660600-55663000	Weak transcription	Hela-S3	cervix

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