Variant report

Variant	rs2053973
Chromosome Location	chr15:40778676-40778677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr15:40778302-40778845	K562	blood:	n/a	chr15:40778471-40778481 chr15:40778535-40778547 chr15:40778470-40778482
2	ELF1	chr15:40778336-40778683	K562	blood:	n/a	chr15:40778523-40778536
3	YY1	chr15:40778410-40778706	GM12878	blood:	n/a	chr15:40778471-40778481 chr15:40778535-40778547 chr15:40778470-40778482
4	GABPA	chr15:40778179-40778731	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40778656-40778706	Jurkat	blood:	n/a
2	chr15:40778656-40778706	NHBE	bronchial:	n/a
3	chr15:40778656-40778706	Hepatocyte	liver:	n/a
4	chr15:40778656-40778706	ProgFib	skin:	n/a
5	chr15:40778656-40778706	HCPEpiC	choroid plexus:	n/a
6	chr15:40778656-40778706	K562	blood:	n/a
7	chr15:40778656-40778706	PANC-1	pancreas:	n/a
8	chr15:40778656-40778706	Caco-2	colon:	n/a
9	chr15:40778656-40778706	Hela-S3	cervix:	n/a
10	chr15:40778656-40778706	GM12891	blood:	n/a
11	chr15:40778656-40778706	HCT-116	colon:	n/a
12	chr15:40778656-40778706	SK-N-SH_RA	brain:	n/a
13	chr15:40778656-40778706	PrEC	prostate:	n/a
14	chr15:40778656-40778706	BJ	skin:	n/a
15	chr15:40778656-40778706	GM06990	blood:	n/a
16	chr15:40778656-40778706	T-47D	breast:	n/a
17	chr15:40778656-40778706	HEK293	kidney:	embryo
18	chr15:40778656-40778706	NH-A	brain:	n/a
19	chr15:40778656-40778706	AG09319	gingival:	n/a
20	chr15:40778656-40778706	MCF-7	breast:	n/a
21	chr15:40778656-40778706	LNCaP	prostate:	n/a
22	chr15:40778656-40778706	A549	lung:	n/a
23	chr15:40778656-40778706	GM12892	blood:	n/a
24	chr15:40778656-40778706	HRPEpiC	eye:	n/a
25	chr15:40778656-40778706	HEEpiC	esophagus:	n/a
26	chr15:40778656-40778706	PFSK-1	brain:	n/a
27	chr15:40778656-40778706	AG10803	skin:	n/a
28	chr15:40778656-40778706	AoSMC	blood vessel:	n/a
29	chr15:40778656-40778706	HRCEpiC	kidney:	n/a
30	chr15:40778656-40778706	SK-N-SH	brain:	n/a
31	chr15:40778656-40778706	RPTEC	kidney:	n/a
32	chr15:40778656-40778706	NB4	blood:	n/a
33	chr15:40778656-40778706	HAEpiC	amniotic membrane:	n/a
34	chr15:40778656-40778706	NT2-D1	testis:	n/a
35	chr15:40778656-40778706	HL-60	blood:	n/a
36	chr15:40778656-40778706	SK-N-MC	brain:	n/a
37	chr15:40778656-40778706	MCF10A-Er-Src	breast:	n/a
38	chr15:40778656-40778706	HNPCEpiC	eye:	n/a
39	chr15:40778656-40778706	AG04450	lung:	fetal
40	chr15:40778656-40778706	CMK	blood:	n/a
41	chr15:40778656-40778706	BE2_C	brain:	n/a
42	chr15:40778656-40778706	HCF	heart:	n/a
43	chr15:40778656-40778706	ovcar-3	ovarian:	n/a
44	chr15:40778656-40778706	U87	brain:	n/a
45	chr15:40778656-40778706	SKMC	muscle:	n/a
46	chr15:40778656-40778706	SAEC	small airway:	n/a
47	chr15:40778656-40778706	HCM	heart:	n/a
48	chr15:40778656-40778706	NHDF-neo	bronchial:	n/a
49	chr15:40778656-40778706	HPAEpiC	pulmonary alveolar:	n/a
50	chr15:40778656-40778706	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:40771099..40773628-chr15:40777295..40779621,2	K562	blood:
2	chr15:40749495..40752457-chr15:40777737..40780228,2	MCF-7	breast:
3	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000259536	CpG island
ENSG00000244251	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10152546	0.95[YRI][hapmap]
rs1044474	0.95[YRI][hapmap]
rs1058734	0.90[YRI][hapmap]
rs12905240	1.00[JPT][hapmap]
rs16970709	1.00[JPT][hapmap]
rs16970758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17671250	1.00[JPT][hapmap]
rs17672041	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs17673703	0.95[YRI][hapmap]
rs17733008	1.00[JPT][hapmap]
rs56046472	1.00[ASN][1000 genomes]
rs57149276	0.94[ASN][1000 genomes]
rs57812947	1.00[EUR][1000 genomes]
rs679882	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7164132	1.00[JPT][hapmap]
rs7164321	1.00[JPT][hapmap]
rs7166991	1.00[JPT][hapmap]
rs7169262	1.00[JPT][hapmap]
rs7169404	1.00[JPT][hapmap]
rs73389048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74011171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026523	1.00[JPT][hapmap]
rs8033938	1.00[JPT][hapmap]
rs8042419	1.00[ASN][1000 genomes]
rs8042758	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999197	0.95[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2053973	MRPL42P5	cis	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40778200-40779000	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr15:40778200-40779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:40778400-40778800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
4	chr15:40778400-40778800	Active TSS	Placenta	Placenta
5	chr15:40778400-40778800	Active TSS	Right Ventricle	heart

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