Variant report

Variant	rs7170237
Chromosome Location	chr15:27110040-27110041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:27109995-27110150	GM10248	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
2	CTCF	chr15:27109975-27110170	Lung_OC	lung:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
3	CTCF	chr15:27109980-27110130	SK-N-SH_RA	brain:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
4	RAD21	chr15:27109639-27110356	H1-hESC	embryonic stem cell:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
5	CTCF	chr15:27110000-27110150	HRPEpiC	eye:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
6	CTCF	chr15:27109980-27110130	BJ	skin:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
7	CTCF	chr15:27109995-27110163	GM12878	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
8	CTCF	chr15:27109980-27110130	HVMF	connective:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
9	CTCF	chr15:27110000-27110150	GM12871	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
10	CTCF	chr15:27110000-27110150	NHDF-neo	bronchial:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
11	CTCF	chr15:27110000-27110150	HepG2	liver:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
12	CTCF	chr15:27110000-27110150	AG10803	skin:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
13	CTCF	chr15:27109949-27110175	Spleen_OC	spleen:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
14	CEBPB	chr15:27109915-27110258	HepG2	liver:	n/a	chr15:27110091-27110104 chr15:27110091-27110102 chr15:27110093-27110104 chr15:27110091-27110104
15	CTCF	chr15:27109920-27110070	K562	blood:	n/a	n/a
16	CTCF	chr15:27110020-27110170	HA-sp	spinal cord:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
17	CTCF	chr15:27110018-27110134	GM10266	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
18	CTCF	chr15:27109656-27110987	A549	lung:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
19	CTCF	chr15:27110004-27110108	GM12892	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
20	CTCF	chr15:27109960-27110110	HEEpiC	esophagus:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
21	RAD21	chr15:27109754-27110291	MCF-7	breast:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
22	CTCF	chr15:27110000-27110150	RPTEC	kidney:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
23	CTCF	chr15:27110000-27110150	HMF	breast:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
24	RAD21	chr15:27109910-27110208	K562	blood:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
25	SMC3	chr15:27109859-27110194	Hela-S3	cervix:	n/a	chr15:27110060-27110074
26	RAD21	chr15:27109944-27110139	GM12878	blood:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
27	RAD21	chr15:27109536-27110463	SK-N-SH	brain:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
28	CTCF	chr15:27109960-27110110	MCF-7	breast:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
29	ZNF384	chr15:27109898-27110166	K562	blood:	n/a	n/a
30	CTCF	chr15:27109858-27110213	HepG2	liver:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
31	MAX	chr15:27109506-27110280	A549	lung:	n/a	chr15:27109948-27109964 chr15:27109945-27109956 chr15:27109948-27109955 chr15:27109944-27109957 chr15:27109944-27109957 chr15:27109944-27109957 chr15:27109946-27109953
32	TCF12	chr15:27109635-27110358	A549	lung:	n/a	chr15:27109967-27109977
33	CTCF	chr15:27109980-27110130	AG09309	skin:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
34	RAD21	chr15:27109917-27110136	K562	blood:	n/a	chr15:27110056-27110075 chr15:27110059-27110072
35	CTCF	chr15:27109955-27110201	HUVEC	blood vessel:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
36	CTCF	chr15:27109940-27110090	BJ	skin:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
37	CTCF	chr15:27109980-27110130	WERI-Rb-1	eye:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
38	CTCF	chr15:27110000-27110150	AG04449	skin:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
39	BHLHE40	chr15:27109919-27110070	K562	blood:	n/a	n/a
40	CTCF	chr15:27109980-27110130	GM12864	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
41	CTCF	chr15:27109840-27110323	A549	lung:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
42	CTCF	chr15:27110040-27110190	HAc	cerebellar:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
43	CTCF	chr15:27109980-27110130	K562	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
44	CEBPB	chr15:27109858-27110258	MCF-7	breast:	n/a	chr15:27110091-27110104 chr15:27110091-27110102 chr15:27110093-27110104 chr15:27110091-27110104
45	CTCF	chr15:27109822-27110221	A549	lung:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
46	CTCF	chr15:27109987-27110115	GM19240	blood:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
47	CTCF	chr15:27109893-27110117	HepG2	liver:	n/a	chr15:27110059-27110075 chr15:27110053-27110074 chr15:27110058-27110076
48	MYC	chr15:27109812-27110151	NB4	blood:	n/a	chr15:27109948-27109964 chr15:27109945-27109956 chr15:27109948-27109955 chr15:27109944-27109957 chr15:27109944-27109957 chr15:27109944-27109957 chr15:27109946-27109953
49	JUN	chr15:27109929-27110259	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr15:27109774-27110391	MCF-7	breast:	n/a	chr15:27110056-27110075 chr15:27110059-27110072

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27110029-27110079	HEEpiC	esophagus:	n/a
2	chr15:27110029-27110079	GM12891	blood:	n/a
3	chr15:27110029-27110079	MCF-7	breast:	n/a
4	chr15:27110029-27110079	HCPEpiC	choroid plexus:	n/a
5	chr15:27110029-27110079	K562	blood:	n/a
6	chr15:27110029-27110079	HCF	heart:	n/a
7	chr15:27110029-27110079	Caco-2	colon:	n/a
8	chr15:27110029-27110079	GM12892	blood:	n/a
9	chr15:27110029-27110079	T-47D	breast:	n/a
10	chr15:27110029-27110079	PANC-1	pancreas:	n/a
11	chr15:27110029-27110079	ovcar-3	ovarian:	n/a
12	chr15:27110029-27110079	GM19239	blood:	n/a
13	chr15:27110029-27110079	BJ	skin:	n/a
14	chr15:27110029-27110079	MCF10A-Er-Src	breast:	n/a
15	chr15:27110029-27110079	GM06990	blood:	n/a
16	chr15:27110029-27110079	HIPEpiC	eye:	n/a
17	chr15:27110029-27110079	SKMC	muscle:	n/a
18	chr15:27110029-27110079	NT2-D1	testis:	n/a
19	chr15:27110029-27110079	HEK293	kidney:	embryo
20	chr15:27110029-27110079	BE2_C	brain:	n/a
21	chr15:27110029-27110079	NHDF-neo	bronchial:	n/a
22	chr15:27110029-27110079	LNCaP	prostate:	n/a
23	chr15:27110029-27110079	HUVEC	blood vessel:	n/a
24	chr15:27110029-27110079	HRPEpiC	eye:	n/a
25	chr15:27110029-27110079	HCT-116	colon:	n/a
26	chr15:27110029-27110079	ECC-1	luminal epithelium:	n/a
27	chr15:27110029-27110079	IMR90	lung:	fetal
28	chr15:27110029-27110079	AG04449	skin:	fetal
29	chr15:27110029-27110079	SK-N-SH	brain:	n/a
30	chr15:27110029-27110079	HRCEpiC	kidney:	n/a
31	chr15:27110029-27110079	Hela-S3	cervix:	n/a
32	chr15:27110029-27110079	NB4	blood:	n/a
33	chr15:27110029-27110079	AG09319	gingival:	n/a
34	chr15:27110029-27110079	H1-hESC	embryonic stem cell:	embryo
35	chr15:27110029-27110079	AG10803	skin:	n/a
36	chr15:27110029-27110079	NHBE	bronchial:	n/a
37	chr15:27110029-27110079	SK-N-MC	brain:	n/a
38	chr15:27110029-27110079	RPTEC	kidney:	n/a
39	chr15:27110029-27110079	CMK	blood:	n/a
40	chr15:27110029-27110079	HL-60	blood:	n/a
41	chr15:27110029-27110079	Hepatocyte	liver:	n/a
42	chr15:27110029-27110079	PrEC	prostate:	n/a
43	chr15:27110029-27110079	HAEpiC	amniotic membrane:	n/a
44	chr15:27110029-27110079	HepG2	liver:	n/a
45	chr15:27110029-27110079	AG09309	skin:	n/a
46	chr15:27110029-27110079	Jurkat	blood:	n/a
47	chr15:27110029-27110079	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:27110029-27110079	AoSMC	blood vessel:	n/a
49	chr15:27110029-27110079	AG04450	lung:	fetal
50	chr15:27110029-27110079	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:26425024..26425727-chr15:27109497..27110414,4	MCF-7	breast:
2	chr15:26505384..26505889-chr15:27109613..27110116,2	K562	blood:

Variant related genes	Relation type
GABRA5	TF binding region
GABRA5	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10438463	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12900670	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12903504	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28711911	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34861862	0.84[EUR][1000 genomes]
rs7170231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7495648	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7496487	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8036439	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8037053	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8041106	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:27109600-27110400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr15:27109800-27110200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr15:27109800-27110200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr15:27109800-27110200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:27109800-27110200	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr15:27109800-27110400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:27109800-27110400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr15:27109800-27110600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr15:27109800-27111200	Enhancers	A549	lung
10	chr15:27110000-27110400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr15:27110000-27111200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:27110000-27111800	Weak transcription	Right Atrium	heart

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