Variant report

Variant	rs10422978
Chromosome Location	chr19:55669872-55669873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

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	chr19:55669803-55670178	ECC-1	luminal epithelium:	n/a	chr19:55669864-55669877
4	REST	chr19:55669755-55670127	A549	lung:	n/a	chr19:55669864-55669877
5	EP300	chr19:55669823-55670811	K562	blood:	n/a	n/a
6	REST	chr19:55669761-55670119	PFSK-1	brain:	n/a	chr19:55669864-55669877
7	REST	chr19:55669763-55670175	ECC-1	luminal epithelium:	n/a	chr19:55669864-55669877
8	REST	chr19:55669869-55670048	HepG2	liver:	n/a	n/a
9	REST	chr19:55669750-55670280	A549	lung:	n/a	chr19:55669864-55669877
10	ZNF263	chr19:55669699-55670137	HEK293-T-REx	kidney:	n/a	n/a
11	REST	chr19:55669769-55670088	H1-hESC	embryonic stem cell:	n/a	chr19:55669864-55669877
12	TEAD4	chr19:55669783-55670983	K562	blood:	n/a	n/a
13	JUN	chr19:55669767-55672364	K562	blood:	n/a	chr19:55672186-55672195
14	REST	chr19:55669830-55670114	Hela-S3	cervix:	n/a	chr19:55669864-55669877
15	REST	chr19:55669773-55670098	SK-N-SH	brain:	n/a	chr19:55669864-55669877
16	REST	chr19:55669857-55670078	K562	blood:	n/a	chr19:55669864-55669877
17	REST	chr19:55669819-55670052	H1-hESC	embryonic stem cell:	n/a	chr19:55669864-55669877
18	TEAD4	chr19:55669742-55670983	K562	blood:	n/a	n/a
19	REST	chr19:55669754-55670135	PANC-1	pancreas:	n/a	chr19:55669864-55669877
20	REST	chr19:55669804-55670135	Hela-S3	cervix:	n/a	chr19:55669864-55669877
21	REST	chr19:55669748-55670089	PANC-1	pancreas:	n/a	chr19:55669864-55669877
22	REST	chr19:55669734-55670784	K562	blood:	n/a	chr19:55669864-55669877
23	MAZ	chr19:55669787-55670981	K562	blood:	n/a	n/a
24	ZBTB7A	chr19:55667485-55670788	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55669872-55669922	H1-hESC	embryonic stem cell:	embryo
2	chr19:55669872-55669922	NB4	blood:	n/a
3	chr19:55669872-55669922	MCF-7	breast:	n/a
4	chr19:55669872-55669922	HUVEC	blood vessel:	n/a
5	chr19:55669872-55669922	K562	blood:	n/a
6	chr19:55669872-55669922	AG04450	lung:	fetal
7	chr19:55669872-55669922	AG09319	gingival:	n/a
8	chr19:55669872-55669922	HMEC	breast:	n/a
9	chr19:55669872-55669922	NH-A	brain:	n/a
10	chr19:55669872-55669922	GM12878	blood:	n/a
11	chr19:55669872-55669922	ovcar-3	ovarian:	n/a
12	chr19:55669872-55669922	NHBE	bronchial:	n/a
13	chr19:55669872-55669922	GM19239	blood:	n/a
14	chr19:55669872-55669922	T-47D	breast:	n/a
15	chr19:55669872-55669922	BJ	skin:	n/a
16	chr19:55669872-55669922	HEK293	kidney:	embryo
17	chr19:55669872-55669922	RPTEC	kidney:	n/a
18	chr19:55669872-55669922	NT2-D1	testis:	n/a
19	chr19:55669872-55669922	HepG2	liver:	n/a
20	chr19:55669872-55669922	ECC-1	luminal epithelium:	n/a
21	chr19:55669872-55669922	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:55669872-55669922	Hela-S3	cervix:	n/a
23	chr19:55669872-55669922	GM12891	blood:	n/a
24	chr19:55669872-55669922	HAEpiC	amniotic membrane:	n/a
25	chr19:55669872-55669922	BE2_C	brain:	n/a
26	chr19:55669872-55669922	HCM	heart:	n/a
27	chr19:55669872-55669922	A549	lung:	n/a
28	chr19:55669872-55669922	SK-N-SH	brain:	n/a
29	chr19:55669872-55669922	PFSK-1	brain:	n/a
30	chr19:55669872-55669922	SKMC	muscle:	n/a
31	chr19:55669872-55669922	SK-N-SH_RA	brain:	n/a
32	chr19:55669872-55669922	HL-60	blood:	n/a
33	chr19:55669872-55669922	PrEC	prostate:	n/a
34	chr19:55669872-55669922	SK-N-MC	brain:	n/a
35	chr19:55669872-55669922	HCPEpiC	choroid plexus:	n/a
36	chr19:55669872-55669922	AoSMC	blood vessel:	n/a
37	chr19:55669872-55669922	HIPEpiC	eye:	n/a
38	chr19:55669872-55669922	AG09309	skin:	n/a
39	chr19:55669872-55669922	CMK	blood:	n/a
40	chr19:55669872-55669922	GM06990	blood:	n/a
41	chr19:55669872-55669922	Caco-2	colon:	n/a
42	chr19:55669872-55669922	HRCEpiC	kidney:	n/a
43	chr19:55669872-55669922	HNPCEpiC	eye:	n/a
44	chr19:55669872-55669922	AG10803	skin:	n/a
45	chr19:55669872-55669922	SAEC	small airway:	n/a
46	chr19:55669872-55669922	MCF10A-Er-Src	breast:	n/a
47	chr19:55669872-55669922	HEEpiC	esophagus:	n/a
48	chr19:55669872-55669922	GM12892	blood:	n/a
49	chr19:55669872-55669922	ProgFib	skin:	n/a
50	chr19:55669872-55669922	LNCaP	prostate:	n/a

(count:13 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10418024	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];0.99[ASN][1000 genomes]
rs11671293	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs2288527	0.86[JPT][hapmap]
rs28377509	0.89[EUR][1000 genomes]
rs3729836	0.91[EUR][1000 genomes]
rs3729838	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs3760871	0.80[ASN][1000 genomes]
rs891187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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

No data

Chromatin state (count:31 , 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	chr19:55668600-55670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:55668600-55671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:55668600-55672000	Weak transcription	Pancreas	Pancrea
6	chr19:55668800-55670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:55668800-55671600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:55669000-55670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:55669000-55670000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr19:55669000-55670400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:55669000-55670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:55669000-55672000	Weak transcription	Spleen	Spleen
13	chr19:55669000-55672800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr19:55669200-55670000	Weak transcription	Right Atrium	heart
15	chr19:55669200-55670200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:55669200-55672200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:55669200-55672800	Enhancers	Fetal Heart	heart
18	chr19:55669400-55670000	Enhancers	K562	blood
19	chr19:55669400-55670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:55669400-55670600	Enhancers	Left Ventricle	heart
21	chr19:55669600-55670000	Enhancers	Hela-S3	cervix
22	chr19:55669600-55670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:55669600-55672400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:55669600-55673400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:55669800-55670000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:55669800-55670400	Enhancers	NHEK	skin
27	chr19:55669800-55670600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:55669800-55670600	Enhancers	Right Ventricle	heart
29	chr19:55669800-55671600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr19:55669800-55672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:55669800-55672400	Enhancers	A549	lung

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