Variant report

Variant	rs60327356
Chromosome Location	chr19:19621755-19621756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19621282-19622152	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:19620833-19622044	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:19621194-19622102	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr19:19621438-19622007	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:19621246-19622029	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:19621393-19622099	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:19621228-19621863	HCT-116	colon:	n/a	n/a
8	POLR2A	chr19:19620477-19622060	K562	blood:	n/a	n/a
9	POLR2A	chr19:19618006-19622111	K562	blood:	n/a	n/a
10	POLR2A	chr19:19621186-19621969	GM12891	blood:	n/a	n/a
11	POLR2A	chr19:19621673-19621936	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:19621113-19622529	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr19:19621356-19622067	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:19621684-19621958	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr19:19621252-19622002	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr19:19621391-19621972	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:19621353-19622362	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr19:19621233-19622073	HL-60	blood:	n/a	n/a
19	POLR2A	chr19:19621123-19621792	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:19621424-19621799	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr19:19621093-19622165	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFATC1	chr19:19621153-19622104	GM12878	blood:	n/a	n/a
23	MTA3	chr19:19620896-19622210	GM12878	blood:	n/a	n/a
24	NFATC1	chr19:19621525-19622069	GM12878	blood:	n/a	n/a
25	FOSL2	chr19:19621372-19622019	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:19621248-19622053	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:19621274-19621792	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:19621442-19622132	GM12891	blood:	n/a	n/a
29	PML	chr19:19621421-19622113	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:19621123-19621859	K562	blood:	n/a	n/a
31	POLR2A	chr19:19621497-19622012	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr19:19618777-19622201	K562	blood:	n/a	n/a
33	POLR2A	chr19:19620229-19622248	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr19:19620384-19622059	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:19621224-19622043	GM12892	blood:	n/a	n/a
36	POLR2A	chr19:19621436-19622010	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:19621403-19621961	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:19621497-19621914	HCT-116	colon:	n/a	n/a
39	POLR2A	chr19:19621436-19622200	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:19621286-19622357	U87	brain:	n/a	n/a
41	POLR2A	chr19:19621340-19622072	K562	blood:	n/a	n/a
42	POLR2A	chr19:19621263-19621764	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:19621271-19621982	A549	lung:	n/a	n/a
44	POLR2A	chr19:19621416-19621906	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr19:19621453-19621873	U87	brain:	n/a	n/a
46	POLR2A	chr19:19621554-19622768	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:19621259-19622357	U87	brain:	n/a	n/a
48	POLR2A	chr19:19621332-19621991	GM12892	blood:	n/a	n/a
49	POLR2A	chr19:19620096-19622957	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr19:19620543-19622819	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19602336..19605055-chr19:19620570..19622403,2	MCF-7	breast:
2	chr19:19569916..19571942-chr19:19620244..19622039,2	K562	blood:
3	chr19:19604081..19605986-chr19:19620556..19622809,2	MCF-7	breast:
4	chr19:19619685..19622471-chr19:19657791..19659560,2	K562	blood:

No data

Variant related genes	Relation type
NDUFA13	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10411387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341634	1.00[AMR][1000 genomes]
rs58702947	0.84[AFR][1000 genomes]
rs7258488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922845	1.00[AMR][1000 genomes]
rs73922866	1.00[AMR][1000 genomes]
rs73922902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924828	1.00[AMR][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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19601000-19624600	Weak transcription	Fetal Brain Male	brain
2	chr19:19601200-19624800	Weak transcription	Fetal Kidney	kidney
3	chr19:19601200-19624800	Weak transcription	Right Atrium	heart
4	chr19:19601400-19624800	Weak transcription	Fetal Heart	heart
5	chr19:19613600-19624800	Weak transcription	Psoas Muscle	Psoas
6	chr19:19613600-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19614600-19624800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:19615600-19626400	Weak transcription	Aorta	Aorta
9	chr19:19615800-19623000	Weak transcription	Stomach Mucosa	stomach
10	chr19:19615800-19626000	Weak transcription	Hela-S3	cervix
11	chr19:19615800-19626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:19616000-19623200	Weak transcription	K562	blood
13	chr19:19616000-19624800	Weak transcription	Brain Angular Gyrus	brain
14	chr19:19616000-19626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:19616200-19626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:19616400-19626200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:19616600-19624800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:19616600-19626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19616600-19626200	Weak transcription	GM12878-XiMat	blood
20	chr19:19616800-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:19617000-19624800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:19617000-19625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:19617200-19624800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:19617200-19625400	Weak transcription	Colonic Mucosa	Colon
25	chr19:19617400-19624600	Weak transcription	Left Ventricle	heart
26	chr19:19617400-19625800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:19617800-19624800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:19617800-19625000	Weak transcription	Ovary	ovary
29	chr19:19617800-19626000	Weak transcription	HepG2	liver
30	chr19:19618000-19623000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:19618000-19626400	Weak transcription	HUVEC	blood vessel
32	chr19:19618200-19625000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:19618200-19626200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:19618200-19626200	Weak transcription	Small Intestine	intestine
35	chr19:19618400-19626000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:19618600-19626200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:19618600-19626400	Weak transcription	NHDF-Ad	bronchial
38	chr19:19618800-19624400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:19618800-19624800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:19618800-19625000	Weak transcription	Primary B cells from cord blood	blood
41	chr19:19618800-19625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:19618800-19626200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:19618800-19626200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:19618800-19626200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:19618800-19626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:19618800-19626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:19618800-19626400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:19619000-19624600	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:19619000-19624800	Weak transcription	Right Ventricle	heart
50	chr19:19619000-19624800	Weak transcription	Osteobl	bone

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