Variant report

Variant	rs8036439
Chromosome Location	chr15:27112126-27112127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:27112087-27112249	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr15:27111959-27112642	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr15:27111742-27112327	A549	lung:	n/a	n/a
4	CTCF	chr15:27112120-27112270	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr15:27112120-27112270	HMEC	breast:	n/a	n/a
6	TAF7	chr15:27111915-27112324	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:27112056-27112263	HepG2	liver:	n/a	n/a
8	CTCF	chr15:27112120-27112270	HCFaa	heart:	n/a	n/a
9	CTCF	chr15:27112100-27112250	HMF	breast:	n/a	n/a
10	CTCF	chr15:27112120-27112270	HepG2	liver:	n/a	n/a
11	MAX	chr15:27111395-27113536	A549	lung:	n/a	n/a
12	CTCF	chr15:27112120-27112270	AG09309	skin:	n/a	n/a
13	TBP	chr15:27111920-27112304	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr15:27112120-27112262	K562	blood:	n/a	n/a
15	CTCF	chr15:27111919-27112309	A549	lung:	n/a	n/a
16	RAD21	chr15:27112076-27112257	K562	blood:	n/a	n/a
17	CTCF	chr15:27112106-27112280	ProgFib	skin:	n/a	n/a
18	POLR2A	chr15:27112125-27112316	A549	lung:	n/a	n/a
19	CTCF	chr15:27112100-27112250	HRPEpiC	eye:	n/a	n/a
20	TCF12	chr15:27111523-27112330	A549	lung:	n/a	chr15:27111656-27111666
21	E2F6	chr15:27112126-27112273	K562	blood:	n/a	n/a
22	RAD21	chr15:27111859-27112325	A549	lung:	n/a	chr15:27112043-27112055
23	CTCF	chr15:27112100-27112250	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr15:27112100-27112250	AG09319	gingival:	n/a	n/a
25	E2F6	chr15:27112107-27112294	K562	blood:	n/a	n/a
26	CTCF	chr15:27112019-27112277	T-47D	breast:	n/a	n/a
27	YY1	chr15:27111847-27112276	A549	lung:	n/a	chr15:27112142-27112151
28	MAX	chr15:27111848-27112317	A549	lung:	n/a	n/a
29	RAD21	chr15:27111906-27112389	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
30	RAD21	chr15:27111941-27112366	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
31	CTCF	chr15:27111906-27112377	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF143	chr15:27111977-27112336	H1-hESC	embryonic stem cell:	n/a	chr15:27112030-27112040
33	CTCF	chr15:27112094-27112255	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr15:27112043-27112279	K562	blood:	n/a	n/a
35	RAD21	chr15:27111870-27112447	H1-hESC	embryonic stem cell:	n/a	chr15:27112043-27112055
36	CTCF	chr15:27112080-27112230	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr15:27112000-27112150	HFF-Myc	foreskin:	n/a	n/a
38	JUND	chr15:27111746-27112310	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr15:27112100-27112250	AG04449	skin:	n/a	n/a
40	CTCF	chr15:27112080-27112230	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr15:27112053-27112326	A549	lung:	n/a	n/a
42	MAX	chr15:27111843-27113545	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr15:27112120-27112270	HEK293	kidney:	n/a	n/a
44	E2F6	chr15:27111882-27112585	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112387
45	CTCF	chr15:27112100-27112250	RPTEC	kidney:	n/a	n/a
46	MXI1	chr15:27111964-27112270	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr15:27112062-27112276	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr15:27112100-27112250	AG04450	lung:	n/a	n/a
49	CTCF	chr15:27112077-27112340	IMR90	lung:	n/a	n/a
50	RAD21	chr15:27111841-27112492	SK-N-SH	brain:	n/a	chr15:27112043-27112055

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27112119-27112169	HCT-116	colon:	n/a
2	chr15:27112119-27112169	IMR90	lung:	fetal
3	chr15:27112119-27112169	HMEC	breast:	n/a
4	chr15:27112119-27112169	HCF	heart:	n/a
5	chr15:27112119-27112169	SK-N-MC	brain:	n/a
6	chr15:27112119-27112169	PFSK-1	brain:	n/a
7	chr15:27112119-27112169	NHBE	bronchial:	n/a
8	chr15:27112119-27112169	AoSMC	blood vessel:	n/a
9	chr15:27112119-27112169	A549	lung:	n/a
10	chr15:27112119-27112169	U87	brain:	n/a
11	chr15:27112119-27112169	NB4	blood:	n/a
12	chr15:27112119-27112169	HUVEC	blood vessel:	n/a
13	chr15:27112119-27112169	RPTEC	kidney:	n/a
14	chr15:27112119-27112169	PANC-1	pancreas:	n/a
15	chr15:27112119-27112169	AG10803	skin:	n/a
16	chr15:27112119-27112169	ProgFib	skin:	n/a
17	chr15:27112119-27112169	HCM	heart:	n/a
18	chr15:27112119-27112169	BJ	skin:	n/a
19	chr15:27112119-27112169	SKMC	muscle:	n/a
20	chr15:27112119-27112169	BE2_C	brain:	n/a
21	chr15:27112119-27112169	GM12892	blood:	n/a
22	chr15:27112119-27112169	HepG2	liver:	n/a
23	chr15:27112119-27112169	SK-N-SH	brain:	n/a
24	chr15:27112119-27112169	T-47D	breast:	n/a
25	chr15:27112119-27112169	Jurkat	blood:	n/a
26	chr15:27112119-27112169	AG04449	skin:	fetal
27	chr15:27112119-27112169	CMK	blood:	n/a
28	chr15:27112119-27112169	Hepatocyte	liver:	n/a
29	chr15:27112119-27112169	Caco-2	colon:	n/a
30	chr15:27112119-27112169	SAEC	small airway:	n/a
31	chr15:27112119-27112169	HRPEpiC	eye:	n/a
32	chr15:27112119-27112169	HIPEpiC	eye:	n/a
33	chr15:27112119-27112169	HL-60	blood:	n/a
34	chr15:27112119-27112169	AG04450	lung:	fetal
35	chr15:27112119-27112169	AG09319	gingival:	n/a
36	chr15:27112119-27112169	K562	blood:	n/a
37	chr15:27112119-27112169	HNPCEpiC	eye:	n/a
38	chr15:27112119-27112169	GM12891	blood:	n/a
39	chr15:27112119-27112169	MCF10A-Er-Src	breast:	n/a
40	chr15:27112119-27112169	NH-A	brain:	n/a
41	chr15:27112119-27112169	ECC-1	luminal epithelium:	n/a
42	chr15:27112119-27112169	NHDF-neo	bronchial:	n/a
43	chr15:27112119-27112169	NT2-D1	testis:	n/a
44	chr15:27112119-27112169	ovcar-3	ovarian:	n/a
45	chr15:27112119-27112169	SK-N-SH_RA	brain:	n/a
46	chr15:27112119-27112169	GM19239	blood:	n/a
47	chr15:27112119-27112169	PrEC	prostate:	n/a
48	chr15:27112119-27112169	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:27112119-27112169	LNCaP	prostate:	n/a
50	chr15:27112119-27112169	HAEpiC	amniotic membrane:	n/a

No data

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:10)

rs_ID	r²[population]
rs10438463	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12900670	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12903504	0.84[AMR][1000 genomes]
rs28711911	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7170231	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170237	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7495648	0.91[AMR][1000 genomes]
rs7496487	0.92[AMR][1000 genomes]
rs8037053	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8041106	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:27111200-27114000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:27111400-27112200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:27111400-27113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:27111400-27113600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:27111600-27112800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr15:27111600-27113200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr15:27111600-27113200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:27111800-27112200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:27111800-27112200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:27111800-27112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:27111800-27112400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr15:27111800-27112400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
13	chr15:27111800-27112400	Bivalent Enhancer	Esophagus	oesophagus
14	chr15:27111800-27112400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr15:27111800-27112600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr15:27111800-27113000	Bivalent Enhancer	Fetal Lung	lung
17	chr15:27111800-27113400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:27111800-27113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:27111800-27113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr15:27111800-27113600	Active TSS	NH-A	brain
21	chr15:27111800-27114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr15:27111800-27114000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr15:27111800-27114000	Active TSS	A549	lung
24	chr15:27112000-27112200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr15:27112000-27112200	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr15:27112000-27112200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
33	chr15:27112000-27112200	Weak transcription	Right Atrium	heart
34	chr15:27112000-27112200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:27112000-27112400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:27112000-27112400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
38	chr15:27112000-27112400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr15:27112000-27112600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:27112000-27112600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:27112000-27112800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:27112000-27112800	Enhancers	Gastric	stomach
43	chr15:27112000-27112800	Bivalent Enhancer	Spleen	Spleen
44	chr15:27112000-27113000	Enhancers	Pancreas	Pancrea
45	chr15:27112000-27113000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr15:27112000-27113200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr15:27112000-27113400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:27112000-27113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr15:27112000-27113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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