Variant report

Variant	rs8037053
Chromosome Location	chr15:27111431-27111432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:27111395-27113536	A549	lung:	n/a	n/a
2	CTBP2	chr15:27111373-27113610	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr15:27111344-27113069	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112389
4	CTCF	chr15:27111169-27112574	A549	lung:	n/a	chr15:27112510-27112523
5	CTCF	chr15:27111420-27111570	GM12872	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27111388-27111438	HRE	kidney:	n/a
2	chr15:27111388-27111438	HNPCEpiC	eye:	n/a
3	chr15:27111388-27111438	NT2-D1	testis:	n/a
4	chr15:27111388-27111438	AG09309	skin:	n/a
5	chr15:27111388-27111438	K562	blood:	n/a
6	chr15:27111388-27111438	HEEpiC	esophagus:	n/a
7	chr15:27111388-27111438	AG04450	lung:	fetal
8	chr15:27111388-27111438	BE2_C	brain:	n/a
9	chr15:27111388-27111438	MCF-7	breast:	n/a
10	chr15:27111388-27111438	ECC-1	luminal epithelium:	n/a
11	chr15:27111388-27111438	HAEpiC	amniotic membrane:	n/a
12	chr15:27111388-27111438	PANC-1	pancreas:	n/a
13	chr15:27111388-27111438	BJ	skin:	n/a
14	chr15:27111388-27111438	SKMC	muscle:	n/a
15	chr15:27111388-27111438	GM19239	blood:	n/a
16	chr15:27111388-27111438	AG10803	skin:	n/a
17	chr15:27111388-27111438	GM12878	blood:	n/a
18	chr15:27111388-27111438	U87	brain:	n/a
19	chr15:27111388-27111438	GM12891	blood:	n/a
20	chr15:27111388-27111438	IMR90	lung:	fetal
21	chr15:27111388-27111438	LNCaP	prostate:	n/a
22	chr15:27111388-27111438	HIPEpiC	eye:	n/a
23	chr15:27111388-27111438	HRPEpiC	eye:	n/a
24	chr15:27111388-27111438	HepG2	liver:	n/a
25	chr15:27111388-27111438	MCF10A-Er-Src	breast:	n/a
26	chr15:27111388-27111438	NB4	blood:	n/a
27	chr15:27111388-27111438	SK-N-SH	brain:	n/a
28	chr15:27111388-27111438	PrEC	prostate:	n/a
29	chr15:27111388-27111438	HCM	heart:	n/a
30	chr15:27111388-27111438	HUVEC	blood vessel:	n/a
31	chr15:27111388-27111438	HEK293	kidney:	embryo
32	chr15:27111388-27111438	CMK	blood:	n/a
33	chr15:27111388-27111438	HCF	heart:	n/a
34	chr15:27111388-27111438	Jurkat	blood:	n/a
35	chr15:27111388-27111438	HCPEpiC	choroid plexus:	n/a
36	chr15:27111388-27111438	NH-A	brain:	n/a
37	chr15:27111388-27111438	HRCEpiC	kidney:	n/a
38	chr15:27111388-27111438	SAEC	small airway:	n/a
39	chr15:27111388-27111438	NHBE	bronchial:	n/a
40	chr15:27111388-27111438	HCT-116	colon:	n/a
41	chr15:27111388-27111438	GM06990	blood:	n/a
42	chr15:27111388-27111438	ovcar-3	ovarian:	n/a
43	chr15:27111388-27111438	Hela-S3	cervix:	n/a
44	chr15:27111388-27111438	GM12892	blood:	n/a
45	chr15:27111388-27111438	T-47D	breast:	n/a
46	chr15:27111388-27111438	NHDF-neo	bronchial:	n/a
47	chr15:27111388-27111438	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:27111388-27111438	SK-N-SH_RA	brain:	n/a
49	chr15:27111388-27111438	AoSMC	blood vessel:	n/a
50	chr15:27111388-27111438	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:27110118..27111814-chr15:27112231..27114077,2	K562	blood:

No data

Variant related genes	Relation type
GABRA5	TF binding region
GABRA5	CpG island
ENSG00000186297	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10438463	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12900670	0.91[EUR][1000 genomes]
rs12903504	0.83[EUR][1000 genomes]
rs28711911	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861862	0.80[EUR][1000 genomes]
rs7170231	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170237	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7495648	0.84[EUR][1000 genomes]
rs7496487	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8036439	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8041106	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530664	chr15:26821078-27296222	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1041629	chr15:26919868-27192078	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1791731	chr15:27059973-27113311	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1823300	chr15:27068434-27116718	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv530815	chr15:27102003-27866013	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3442555	chr15:27111284-27113832	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:27110000-27111800	Weak transcription	Right Atrium	heart
2	chr15:27110400-27111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:27111200-27111600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:27111200-27111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:27111200-27111800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:27111200-27111800	Flanking Active TSS	A549	lung
7	chr15:27111200-27112000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr15:27111200-27114000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:27111400-27111600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:27111400-27111600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:27111400-27111600	Bivalent Enhancer	NH-A	brain
12	chr15:27111400-27111800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:27111400-27111800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:27111400-27111800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr15:27111400-27111800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:27111400-27112000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr15:27111400-27112000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:27111400-27112000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr15:27111400-27112000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr15:27111400-27112200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:27111400-27113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:27111400-27113600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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