Variant report

Variant	rs7161792
Chromosome Location	chr15:78209131-78209132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr15:78209088-78209366	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:78208697-78209924	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78209119-78209169	GM12891	blood:	n/a
2	chr15:78209119-78209169	MCF10A-Er-Src	breast:	n/a
3	chr15:78209119-78209169	GM06990	blood:	n/a
4	chr15:78209119-78209169	U87	brain:	n/a
5	chr15:78209119-78209169	Jurkat	blood:	n/a
6	chr15:78209119-78209169	HAEpiC	amniotic membrane:	n/a
7	chr15:78209119-78209169	NT2-D1	testis:	n/a
8	chr15:78209119-78209169	SK-N-SH	brain:	n/a
9	chr15:78209119-78209169	H1-hESC	embryonic stem cell:	embryo
10	chr15:78209119-78209169	AG09319	gingival:	n/a
11	chr15:78209119-78209169	NHDF-neo	bronchial:	n/a
12	chr15:78209119-78209169	HRPEpiC	eye:	n/a
13	chr15:78209119-78209169	AG09309	skin:	n/a
14	chr15:78209119-78209169	IMR90	lung:	fetal
15	chr15:78209119-78209169	ovcar-3	ovarian:	n/a
16	chr15:78209119-78209169	SAEC	small airway:	n/a
17	chr15:78209119-78209169	HMEC	breast:	n/a
18	chr15:78209119-78209169	HUVEC	blood vessel:	n/a
19	chr15:78209119-78209169	HRE	kidney:	n/a
20	chr15:78209119-78209169	HCF	heart:	n/a
21	chr15:78209119-78209169	ECC-1	luminal epithelium:	n/a
22	chr15:78209119-78209169	AG04449	skin:	fetal
23	chr15:78209119-78209169	LNCaP	prostate:	n/a
24	chr15:78209119-78209169	Hepatocyte	liver:	n/a
25	chr15:78209119-78209169	SK-N-MC	brain:	n/a
26	chr15:78209119-78209169	HNPCEpiC	eye:	n/a
27	chr15:78209119-78209169	MCF-7	breast:	n/a
28	chr15:78209119-78209169	HIPEpiC	eye:	n/a
29	chr15:78209119-78209169	HPAEpiC	pulmonary alveolar:	n/a
30	chr15:78209119-78209169	RPTEC	kidney:	n/a
31	chr15:78209119-78209169	HL-60	blood:	n/a
32	chr15:78209119-78209169	BE2_C	brain:	n/a
33	chr15:78209119-78209169	GM12892	blood:	n/a
34	chr15:78209119-78209169	NB4	blood:	n/a
35	chr15:78209119-78209169	HRCEpiC	kidney:	n/a
36	chr15:78209119-78209169	PANC-1	pancreas:	n/a
37	chr15:78209119-78209169	BJ	skin:	n/a
38	chr15:78209119-78209169	K562	blood:	n/a
39	chr15:78209119-78209169	HCM	heart:	n/a
40	chr15:78209119-78209169	HCT-116	colon:	n/a
41	chr15:78209119-78209169	ProgFib	skin:	n/a
42	chr15:78209119-78209169	AoSMC	blood vessel:	n/a
43	chr15:78209119-78209169	SK-N-SH_RA	brain:	n/a
44	chr15:78209119-78209169	T-47D	breast:	n/a
45	chr15:78209119-78209169	HEK293	kidney:	embryo
46	chr15:78209119-78209169	SKMC	muscle:	n/a
47	chr15:78209119-78209169	GM12878	blood:	n/a
48	chr15:78209119-78209169	AG10803	skin:	n/a
49	chr15:78209119-78209169	NH-A	brain:	n/a
50	chr15:78209119-78209169	PrEC	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-5	chr15:78209065-78209324	NONHSAT047472

No data

Variant related genes	Relation type
ENSG00000260776	TF binding region
ENSG00000260776	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11633920	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12592262	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4435227	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62010405	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904428	chr15:78156238-78230906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1823600	chr15:78200594-78219757	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv18540	chr15:78202973-78227329	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7161792	RP11-114H24.2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
2	chr15:78203200-78220200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:78203200-78227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78208400-78209600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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