Variant report

Variant	rs10418024
Chromosome Location	chr19:55669778-55669779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:55669727-55670197	PANC-1	pancreas:	n/a	chr19:55669864-55669877
2	POLR2A	chr19:55669700-55669895	K562	blood:	n/a	n/a
3	REST	chr19:55669755-55670127	A549	lung:	n/a	chr19:55669864-55669877
4	REST	chr19:55669761-55670119	PFSK-1	brain:	n/a	chr19:55669864-55669877
5	REST	chr19:55669763-55670175	ECC-1	luminal epithelium:	n/a	chr19:55669864-55669877
6	REST	chr19:55669750-55670280	A549	lung:	n/a	chr19:55669864-55669877
7	ZNF263	chr19:55669699-55670137	HEK293-T-REx	kidney:	n/a	n/a
8	REST	chr19:55669769-55670088	H1-hESC	embryonic stem cell:	n/a	chr19:55669864-55669877
9	JUN	chr19:55669767-55672364	K562	blood:	n/a	chr19:55672186-55672195
10	REST	chr19:55669773-55670098	SK-N-SH	brain:	n/a	chr19:55669864-55669877
11	ZBTB7A	chr19:55668048-55669871	K562	blood:	n/a	n/a
12	TEAD4	chr19:55669742-55670983	K562	blood:	n/a	n/a
13	REST	chr19:55669754-55670135	PANC-1	pancreas:	n/a	chr19:55669864-55669877
14	REST	chr19:55669748-55670089	PANC-1	pancreas:	n/a	chr19:55669864-55669877
15	REST	chr19:55669734-55670784	K562	blood:	n/a	chr19:55669864-55669877
16	ZBTB7A	chr19:55667485-55670788	K562	blood:	n/a	n/a
17	HDAC2	chr19:55669589-55669859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55669739..55671839-chr19:55895942..55898733,2	K562	blood:
2	chr19:55656068..55658188-chr19:55669727..55672257,4	K562	blood:
3	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
4	chr19:55666494..55670422-chr19:55672733..55675574,3	K562	blood:
5	chr19:55668909..55673851-chr19:55684249..55689420,6	K562	blood:
6	chr19:55606186..55608004-chr19:55668541..55670350,2	K562	blood:
7	chr19:55658387..55665037-chr19:55666866..55670836,8	K562	blood:
8	chr19:55669094..55672573-chr19:55676633..55678240,3	K562	blood:
9	chr19:55666595..55669878-chr19:55917801..55921094,4	K562	blood:
10	chr19:55590282..55593983-chr19:55668450..55672239,5	K562	blood:
11	chr19:55624850..55627348-chr19:55669347..55671433,3	K562	blood:
12	chr19:55573018..55574580-chr19:55668896..55671784,2	K562	blood:
13	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:

Variant related genes	Relation type
TNNI3	TF binding region
ENSG00000267577	TF binding region
ENSG00000129990	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10422978	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667847	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11671293	0.91[EUR][1000 genomes]
rs11671466	0.81[ASN][1000 genomes]
rs28377509	0.89[EUR][1000 genomes]
rs3729836	0.91[EUR][1000 genomes]
rs3729838	0.91[EUR][1000 genomes]
rs891187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10418024	TNNI3	cis	brain	BrainEAC

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55667400-55670000	Bivalent Enhancer	Placenta	Placenta
2	chr19:55668200-55670000	Weak transcription	Psoas Muscle	Psoas
3	chr19:55668400-55669800	Weak transcription	A549	lung
4	chr19:55668600-55670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:55668600-55671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:55668600-55672000	Weak transcription	Pancreas	Pancrea
7	chr19:55668800-55670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:55668800-55671600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:55669000-55670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:55669000-55670000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr19:55669000-55670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:55669000-55670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:55669000-55672000	Weak transcription	Spleen	Spleen
14	chr19:55669000-55672800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr19:55669200-55670000	Weak transcription	Right Atrium	heart
16	chr19:55669200-55670200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:55669200-55672200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:55669200-55672800	Enhancers	Fetal Heart	heart
19	chr19:55669400-55670000	Enhancers	K562	blood
20	chr19:55669400-55670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:55669400-55670600	Enhancers	Left Ventricle	heart
22	chr19:55669600-55669800	Flanking Active TSS	Right Ventricle	heart
23	chr19:55669600-55670000	Enhancers	Hela-S3	cervix
24	chr19:55669600-55670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:55669600-55672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:55669600-55673400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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