Variant report

Variant	esv14027
Chromosome Location	chr7:5427674-5428974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr7:5428102-5428108	K562	blood:	n/a	n/a
2	CCNT2	chr7:5427875-5427877	K562	blood:	n/a	n/a
3	CTCF	chr7:5428311-5428362	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:5427607-5427700	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr7:5428445-5428768	H1-hESC	embryonic stem cell:	n/a	n/a
6	GABPA	chr7:5427270-5429069	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr7:5427177-5429069	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:5428117-5428810	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:5428364-5428840	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:5428452-5428558	A549	lung:	n/a	n/a
11	POLR2A	chr7:5427646-5427705	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:5428442-5428919	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr7:5427139-5427969	HL-60	blood:	n/a	n/a
14	POLR2A	chr7:5426892-5427778	NB4	blood:	n/a	n/a
15	POLR2A	chr7:5427850-5428054	HCT-116	colon:	n/a	n/a
16	POLR2A	chr7:5428930-5429044	A549	lung:	n/a	n/a
17	POLR2A	chr7:5427132-5427759	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr7:5427772-5428102	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:5427895-5427944	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:5428729-5428840	ProgFib	skin:	n/a	n/a
21	POLR2A	chr7:5427189-5427848	PANC-1	pancreas:	n/a	n/a
22	RAD21	chr7:5428184-5428672	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5427647-5427697	AG09309	skin:	n/a
2	chr7:5428014-5428064	HL-60	blood:	n/a
3	chr7:5428014-5428064	AG09319	gingival:	n/a
4	chr7:5428014-5428064	A549	lung:	n/a
5	chr7:5428014-5428064	SK-N-SH	brain:	n/a
6	chr7:5428633-5428683	HNPCEpiC	eye:	n/a
7	chr7:5428014-5428064	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:5428014-5428064	HRCEpiC	kidney:	n/a
9	chr7:5428633-5428683	ovcar-3	ovarian:	n/a
10	chr7:5428014-5428064	BE2_C	brain:	n/a
11	chr7:5428014-5428064	HAEpiC	amniotic membrane:	n/a
12	chr7:5428633-5428683	H1-hESC	embryonic stem cell:	embryo
13	chr7:5428014-5428064	GM12892	blood:	n/a
14	chr7:5427647-5427697	K562	blood:	n/a
15	chr7:5428633-5428683	HRE	kidney:	n/a
16	chr7:5428633-5428683	HCT-116	colon:	n/a
17	chr7:5428014-5428064	NB4	blood:	n/a
18	chr7:5428014-5428064	MCF10A-Er-Src	breast:	n/a
19	chr7:5427647-5427697	U87	brain:	n/a
20	chr7:5428633-5428683	AoSMC	blood vessel:	n/a
21	chr7:5428014-5428064	HIPEpiC	eye:	n/a
22	chr7:5428633-5428683	GM12891	blood:	n/a
23	chr7:5427647-5427697	SK-N-SH	brain:	n/a
24	chr7:5428633-5428683	CMK	blood:	n/a
25	chr7:5428633-5428683	AG10803	skin:	n/a
26	chr7:5428014-5428064	AG04450	lung:	fetal
27	chr7:5427647-5427697	HepG2	liver:	n/a
28	chr7:5428014-5428064	CMK	blood:	n/a
29	chr7:5427647-5427697	HEK293	kidney:	embryo
30	chr7:5428633-5428683	SK-N-SH_RA	brain:	n/a
31	chr7:5427647-5427697	ECC-1	luminal epithelium:	n/a
32	chr7:5428633-5428683	T-47D	breast:	n/a
33	chr7:5428633-5428683	HepG2	liver:	n/a
34	chr7:5427647-5427697	GM12891	blood:	n/a
35	chr7:5428633-5428683	ProgFib	skin:	n/a
36	chr7:5427647-5427697	LNCaP	prostate:	n/a
37	chr7:5427647-5427697	AG09319	gingival:	n/a
38	chr7:5428014-5428064	HCM	heart:	n/a
39	chr7:5428014-5428064	HMEC	breast:	n/a
40	chr7:5428014-5428064	HEEpiC	esophagus:	n/a
41	chr7:5427647-5427697	SAEC	small airway:	n/a
42	chr7:5427647-5427697	RPTEC	kidney:	n/a
43	chr7:5428014-5428064	Hela-S3	cervix:	n/a
44	chr7:5428014-5428064	AG09309	skin:	n/a
45	chr7:5428633-5428683	U87	brain:	n/a
46	chr7:5428014-5428064	ovcar-3	ovarian:	n/a
47	chr7:5428633-5428683	AG04449	skin:	fetal
48	chr7:5428633-5428683	HCPEpiC	choroid plexus:	n/a
49	chr7:5428633-5428683	SK-N-SH	brain:	n/a
50	chr7:5427647-5427697	A549	lung:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
2	chr7:5406257..5408361-chr7:5427751..5430730,2	MCF-7	breast:
3	chr7:5428152..5429787-chr7:5466437..5469145,2	K562	blood:
4	chr7:5420460..5423379-chr7:5428515..5430331,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNRC18	TF binding region
TNRC18	CpG island
ENSG00000272953	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000234432	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372640414	chr7:5427706-5427707	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs374947108	chr7:5427713-5427714	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs4724663	chr7:5427720-5427721	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374739594	chr7:5427760-5427761	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs529943064	chr7:5427855-5427856	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs561545797	chr7:5427857-5427858	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs367864160	chr7:5427858-5427859	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs370101496	chr7:5427883-5427884	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs374594397	chr7:5427884-5427885	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs566505645	chr7:5427904-5427905	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs533990893	chr7:5427905-5427906	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs368682637	chr7:5427916-5427917	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs112785272	chr7:5427950-5427951	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs570944659	chr7:5427957-5427958	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs375555396	chr7:5428006-5428007	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs1138700	chr7:5428013-5428014	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs538385298	chr7:5428069-5428070	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs114879170	chr7:5428087-5428088	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs574782018	chr7:5428101-5428102	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs535736669	chr7:5428107-5428108	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs554466523	chr7:5428132-5428133	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572521818	chr7:5428393-5428394	Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs545967660	chr7:5428431-5428432	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs557962394	chr7:5428445-5428446	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs187925525	chr7:5428477-5428478	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs543946415	chr7:5428504-5428505	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs562294879	chr7:5428509-5428510	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs149434477	chr7:5428556-5428557	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541723803	chr7:5428622-5428623	Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs144662045	chr7:5428642-5428643	Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs527610131	chr7:5428698-5428699	Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs552392887	chr7:5428745-5428746	Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs570706391	chr7:5428880-5428881	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs531792990	chr7:5428894-5428895	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs190837877	chr7:5428929-5428930	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375909920	chr7:5428934-5428935	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs199941680	chr7:5428945-5428946	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5410200-5429200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:5413600-5435000	Weak transcription	HSMM	muscle
3	chr7:5416800-5430400	Weak transcription	GM12878-XiMat	blood
4	chr7:5422600-5431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:5423000-5431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:5423000-5434000	Strong transcription	Fetal Thymus	thymus
7	chr7:5423200-5428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:5423200-5435200	Strong transcription	Fetal Intestine Large	intestine
9	chr7:5423200-5436400	Weak transcription	Right Atrium	heart
10	chr7:5423400-5436400	Strong transcription	Fetal Intestine Small	intestine
11	chr7:5423400-5436400	Weak transcription	Psoas Muscle	Psoas
12	chr7:5423600-5434800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:5423600-5443600	Weak transcription	Fetal Brain Male	brain
14	chr7:5424000-5434200	Strong transcription	Thymus	Thymus
15	chr7:5424000-5437600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:5424200-5428200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:5424400-5428000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr7:5424400-5439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:5424600-5428000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:5424600-5434200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:5424800-5432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:5424800-5432600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:5424800-5432800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:5424800-5432800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:5424800-5433000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:5424800-5433600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:5424800-5433800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:5424800-5433800	Strong transcription	Lung	lung
29	chr7:5424800-5434000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:5424800-5434200	Strong transcription	Gastric	stomach
31	chr7:5424800-5434600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:5424800-5434600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:5424800-5435400	Strong transcription	Fetal Muscle Leg	muscle
34	chr7:5424800-5436200	Strong transcription	Fetal Stomach	stomach
35	chr7:5424800-5447000	Weak transcription	Fetal Heart	heart
36	chr7:5425400-5428200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:5425600-5427800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:5425800-5427800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:5425800-5427800	Strong transcription	Osteobl	bone
40	chr7:5425800-5434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:5425800-5434200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:5425800-5434200	Strong transcription	Adipose Nuclei	Adipose
43	chr7:5425800-5434200	Strong transcription	Dnd41	blood
44	chr7:5425800-5434400	Strong transcription	Fetal Brain Female	brain
45	chr7:5425800-5435000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:5425800-5436200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:5425800-5447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:5426000-5428000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:5426000-5428000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:5426000-5428000	Strong transcription	Placenta	Placenta

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