Variant report

Variant	nsv568635
Chromosome Location	chr15:27112727-27113311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:27112751-27113107	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr15:27112992-27113184	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr15:27111373-27113610	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:27113039-27113086	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr15:27112720-27112870	WERI-Rb-1	eye:	n/a	chr15:27112787-27112800 chr15:27112789-27112799
6	CTCF	chr15:27112900-27113050	WERI-Rb-1	eye:	n/a	n/a
7	E2F6	chr15:27111835-27113748	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112387 chr15:27113343-27113350 chr15:27112739-27112751 chr15:27113208-27113218 chr15:27113343-27113350 chr15:27113343-27113350
8	E2F6	chr15:27112594-27113217	H1-hESC	embryonic stem cell:	n/a	chr15:27112739-27112751
9	GABPA	chr15:27112759-27113152	H1-hESC	embryonic stem cell:	n/a	chr15:27112901-27112910
10	MAX	chr15:27113186-27113577	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr15:27111843-27113545	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr15:27111395-27113536	A549	lung:	n/a	n/a
13	MAX	chr15:27111772-27113108	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:27112352-27112813	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr15:27111802-27112944	A549	lung:	n/a	n/a
16	SIN3A	chr15:27111344-27113069	H1-hESC	embryonic stem cell:	n/a	chr15:27112378-27112389
17	ZNF143	chr15:27113306-27113313	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:27112902-27112952	AoSMC	blood vessel:	n/a
2	chr15:27112902-27112952	ProgFib	skin:	n/a
3	chr15:27112902-27112952	GM12891	blood:	n/a
4	chr15:27112902-27112952	ECC-1	luminal epithelium:	n/a
5	chr15:27112902-27112952	A549	lung:	n/a
6	chr15:27112902-27112952	CMK	blood:	n/a
7	chr15:27112902-27112952	NHDF-neo	bronchial:	n/a
8	chr15:27112902-27112952	SK-N-SH	brain:	n/a
9	chr15:27112902-27112952	AG04450	lung:	fetal
10	chr15:27112902-27112952	GM06990	blood:	n/a
11	chr15:27112902-27112952	PANC-1	pancreas:	n/a
12	chr15:27112902-27112952	HepG2	liver:	n/a
13	chr15:27112902-27112952	MCF10A-Er-Src	breast:	n/a
14	chr15:27112902-27112952	BJ	skin:	n/a
15	chr15:27112902-27112952	MCF-7	breast:	n/a
16	chr15:27112902-27112952	NT2-D1	testis:	n/a
17	chr15:27112902-27112952	HRE	kidney:	n/a
18	chr15:27112902-27112952	GM12878	blood:	n/a
19	chr15:27112902-27112952	HUVEC	blood vessel:	n/a
20	chr15:27112902-27112952	Hepatocyte	liver:	n/a
21	chr15:27112902-27112952	PrEC	prostate:	n/a
22	chr15:27112902-27112952	K562	blood:	n/a
23	chr15:27112902-27112952	Hela-S3	cervix:	n/a
24	chr15:27112902-27112952	AG10803	skin:	n/a
25	chr15:27112902-27112952	HEEpiC	esophagus:	n/a
26	chr15:27112902-27112952	SK-N-MC	brain:	n/a
27	chr15:27112902-27112952	HCF	heart:	n/a
28	chr15:27112902-27112952	HEK293	kidney:	embryo
29	chr15:27112902-27112952	Jurkat	blood:	n/a
30	chr15:27112902-27112952	HCT-116	colon:	n/a
31	chr15:27112902-27112952	HRPEpiC	eye:	n/a
32	chr15:27112902-27112952	HCM	heart:	n/a
33	chr15:27112902-27112952	Caco-2	colon:	n/a
34	chr15:27112902-27112952	NH-A	brain:	n/a
35	chr15:27112902-27112952	HMEC	breast:	n/a
36	chr15:27112902-27112952	U87	brain:	n/a
37	chr15:27112902-27112952	NB4	blood:	n/a
38	chr15:27112902-27112952	PFSK-1	brain:	n/a
39	chr15:27112902-27112952	SK-N-SH_RA	brain:	n/a
40	chr15:27112902-27112952	HAEpiC	amniotic membrane:	n/a
41	chr15:27112902-27112952	BE2_C	brain:	n/a
42	chr15:27112902-27112952	IMR90	lung:	fetal
43	chr15:27112902-27112952	SAEC	small airway:	n/a
44	chr15:27112902-27112952	AG04449	skin:	fetal
45	chr15:27112902-27112952	H1-hESC	embryonic stem cell:	embryo
46	chr15:27112902-27112952	HCPEpiC	choroid plexus:	n/a
47	chr15:27112902-27112952	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:27112902-27112952	GM12892	blood:	n/a
49	chr15:27112902-27112952	AG09319	gingival:	n/a
50	chr15:27112902-27112952	RPTEC	kidney:	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 interactions

Extended variants
information (count: 15 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546484976	chr15:27112729-27112730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560097294	chr15:27112738-27112739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528446747	chr15:27112743-27112744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185514208	chr15:27112744-27112745	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568505509	chr15:27112761-27112762	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531017257	chr15:27112806-27112807	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550822074	chr15:27112841-27112842	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569806456	chr15:27112911-27112912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs61996950	chr15:27112950-27112951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553765324	chr15:27113004-27113005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565643226	chr15:27113256-27113257	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534647119	chr15:27113266-27113267	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189512389	chr15:27113267-27113268	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574384135	chr15:27113268-27113269	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543475676	chr15:27113302-27113303	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
abnormal development	18461090	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Angelman syndrome	21824424	CNVD
Prader-willi syndrome	21824424	CNVD
Autism	18522746	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Central neurocytomas	17123091	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Ovarian cancer	22355333	CNVD
Autism	20531469	CNVD
Autism	22543975	CNVD
Cancer	20164919	CNVD
Schizophrenia	17989066	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 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	chr15:27111400-27113600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:27111400-27113600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:27111600-27112800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:27111600-27113200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:27111600-27113200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:27111800-27113000	Bivalent Enhancer	Fetal Lung	lung
8	chr15:27111800-27113400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:27111800-27113600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:27111800-27113600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr15:27111800-27113600	Active TSS	NH-A	brain
12	chr15:27111800-27114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:27111800-27114000	Bivalent Enhancer	Fetal Brain Male	brain
14	chr15:27111800-27114000	Active TSS	A549	lung
15	chr15:27112000-27112800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:27112000-27112800	Enhancers	Gastric	stomach
17	chr15:27112000-27112800	Bivalent Enhancer	Spleen	Spleen
18	chr15:27112000-27113000	Enhancers	Pancreas	Pancrea
19	chr15:27112000-27113000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr15:27112000-27113200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:27112000-27113400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:27112000-27113600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr15:27112000-27113600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr15:27112000-27113800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:27112000-27114000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:27112000-27114000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr15:27112000-27114000	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr15:27112200-27112800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr15:27112200-27113000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:27112200-27113000	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr15:27112200-27113400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:27112200-27113400	Active TSS	Right Atrium	heart
34	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
39	chr15:27112400-27112800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
40	chr15:27112400-27112800	Active TSS	Rectal Smooth Muscle	rectum
41	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:27112400-27113000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:27112400-27113000	Bivalent/Poised TSS	Thymus	Thymus
45	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:27112400-27113200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:27112400-27113200	Active TSS	Brain Angular Gyrus	brain
49	chr15:27112400-27113200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr15:27112400-27113400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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