Variant report

Variant	esv3393681
Chromosome Location	chr7:27134192-27134550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:185)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:27134056-27134703	H1-hESC	embryonic stem cell:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27134369-27134419	HL-60	blood:	n/a
2	chr7:27134259-27134309	HRE	kidney:	n/a
3	chr7:27134369-27134419	HL-60	blood:	n/a
4	chr7:27134259-27134309	HRE	kidney:	n/a
5	chr7:27134259-27134309	AG04449	skin:	fetal
6	chr7:27134259-27134309	GM06990	blood:	n/a
7	chr7:27134369-27134419	Hepatocyte	liver:	n/a
8	chr7:27134369-27134419	HAEpiC	amniotic membrane:	n/a
9	chr7:27134259-27134309	HCF	heart:	n/a
10	chr7:27134259-27134309	CMK	blood:	n/a
11	chr7:27134225-27134275	Hepatocyte	liver:	n/a
12	chr7:27134259-27134309	HUVEC	blood vessel:	n/a
13	chr7:27134225-27134275	AG04450	lung:	fetal
14	chr7:27134369-27134419	IMR90	lung:	fetal
15	chr7:27134225-27134275	HMEC	breast:	n/a
16	chr7:27134225-27134275	BE2_C	brain:	n/a
17	chr7:27134369-27134419	A549	lung:	n/a
18	chr7:27134225-27134275	ProgFib	skin:	n/a
19	chr7:27134225-27134275	CMK	blood:	n/a
20	chr7:27134369-27134419	Caco-2	colon:	n/a
21	chr7:27134369-27134419	HCT-116	colon:	n/a
22	chr7:27134369-27134419	NHDF-neo	bronchial:	n/a
23	chr7:27134225-27134275	LNCaP	prostate:	n/a
24	chr7:27134259-27134309	PFSK-1	brain:	n/a
25	chr7:27134369-27134419	GM12878	blood:	n/a
26	chr7:27134225-27134275	ECC-1	luminal epithelium:	n/a
27	chr7:27134259-27134309	NB4	blood:	n/a
28	chr7:27134369-27134419	K562	blood:	n/a
29	chr7:27134259-27134309	BE2_C	brain:	n/a
30	chr7:27134225-27134275	Jurkat	blood:	n/a
31	chr7:27134369-27134419	MCF10A-Er-Src	breast:	n/a
32	chr7:27134225-27134275	MCF10A-Er-Src	breast:	n/a
33	chr7:27134369-27134419	GM12892	blood:	n/a
34	chr7:27134369-27134419	GM06990	blood:	n/a
35	chr7:27134259-27134309	GM19239	blood:	n/a
36	chr7:27134369-27134419	HMEC	breast:	n/a
37	chr7:27134369-27134419	AoSMC	blood vessel:	n/a
38	chr7:27134259-27134309	HCT-116	colon:	n/a
39	chr7:27134369-27134419	CMK	blood:	n/a
40	chr7:27134369-27134419	ECC-1	luminal epithelium:	n/a
41	chr7:27134369-27134419	HNPCEpiC	eye:	n/a
42	chr7:27134225-27134275	HRPEpiC	eye:	n/a
43	chr7:27134225-27134275	HCF	heart:	n/a
44	chr7:27134259-27134309	A549	lung:	n/a
45	chr7:27134369-27134419	HEK293	kidney:	embryo
46	chr7:27134369-27134419	SAEC	small airway:	n/a
47	chr7:27134225-27134275	RPTEC	kidney:	n/a
48	chr7:27134259-27134309	GM12892	blood:	n/a
49	chr7:27134259-27134309	HMEC	breast:	n/a
50	chr7:27134369-27134419	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:
2	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
3	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
4	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
5	chr7:27129791..27131817-chr7:27132172..27134297,2	MCF-7	breast:

No data

Variant related genes	Relation type
HOTAIRM1	TF binding region
HOTAIRM1	CpG island
ENSG00000243766	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000213786	chromatin interactions
ENSG00000253552	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113439849	chr7:27134192-27134193	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs144812662	chr7:27134193-27134194	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs373337108	chr7:27134245-27134246	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs41311763	chr7:27134270-27134271	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs200421049	chr7:27134289-27134290	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs183033372	chr7:27134290-27134291	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs138651027	chr7:27134302-27134303	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs537351255	chr7:27134303-27134304	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs141900601	chr7:27134315-27134316	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs556902625	chr7:27134316-27134317	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs143597165	chr7:27134326-27134327	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs377716509	chr7:27134353-27134354	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs34462126	chr7:27134383-27134384	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370033913	chr7:27134388-27134389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs552669601	chr7:27134409-27134410	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs576079236	chr7:27134433-27134434	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs17465302	chr7:27134449-27134450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572556009	chr7:27134465-27134466	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs111259912	chr7:27134475-27134476	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs561337539	chr7:27134476-27134477	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27128600-27135000	Weak transcription	NHLF	lung
2	chr7:27129800-27134400	Bivalent Enhancer	Fetal Lung	lung
3	chr7:27131200-27134600	Weak transcription	A549	lung
4	chr7:27131800-27134200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr7:27132600-27134400	Weak transcription	HUVEC	blood vessel
6	chr7:27132600-27134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:27133000-27134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:27133400-27134600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr7:27133600-27134200	Enhancers	HMEC	breast
10	chr7:27133800-27134400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:27133800-27134800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:27134000-27134200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:27134000-27134200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:27134000-27134200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr7:27134000-27134200	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr7:27134000-27134200	Transcr. at gene 5' and 3'	NHEK	skin
17	chr7:27134000-27134400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr7:27134000-27134400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:27134000-27134400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:27134000-27134800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr7:27134000-27134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:27134000-27134800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr7:27134000-27134800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr7:27134000-27135000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:27134000-27135200	Enhancers	Spleen	Spleen
26	chr7:27134000-27135600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:27134200-27134400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:27134200-27134400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:27134200-27134400	Bivalent Enhancer	Fetal Kidney	kidney
31	chr7:27134200-27134400	Flanking Active TSS	HMEC	breast
32	chr7:27134200-27134600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr7:27134200-27134600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr7:27134200-27134600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr7:27134200-27134600	Flanking Active TSS	NHEK	skin
36	chr7:27134200-27134800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr7:27134200-27134800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:27134200-27134800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:27134200-27135000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr7:27134200-27135000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr7:27134200-27135000	Enhancers	Esophagus	oesophagus
42	chr7:27134200-27135000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr7:27134200-27135000	Enhancers	Gastric	stomach
44	chr7:27134200-27135000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr7:27134200-27135000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:27134400-27134600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:27134400-27134600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:27134400-27134600	Enhancers	Stomach Mucosa	stomach
50	chr7:27134400-27134600	Enhancers	HSMMtube	muscle

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