Variant report

Variant	esv3331298
Chromosome Location	chr7:150094027-150095173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150094411-150094494	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:150095133-150095194	GM12878	blood:	n/a	n/a
3	RAD21	chr7:150094299-150094582	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:150094377-150094560	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150094161-150094211	HEK293	kidney:	embryo
2	chr7:150095084-150095134	HCM	heart:	n/a
3	chr7:150094161-150094211	HEEpiC	esophagus:	n/a
4	chr7:150095084-150095134	CMK	blood:	n/a
5	chr7:150094161-150094211	HL-60	blood:	n/a
6	chr7:150095084-150095134	AG04450	lung:	fetal
7	chr7:150095084-150095134	HEEpiC	esophagus:	n/a
8	chr7:150094161-150094211	K562	blood:	n/a
9	chr7:150095084-150095134	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:150094161-150094211	HCT-116	colon:	n/a
11	chr7:150095084-150095134	GM12892	blood:	n/a
12	chr7:150095084-150095134	AG09319	gingival:	n/a
13	chr7:150095084-150095134	ovcar-3	ovarian:	n/a
14	chr7:150095084-150095134	AG09309	skin:	n/a
15	chr7:150095084-150095134	GM19239	blood:	n/a
16	chr7:150094161-150094211	MCF-7	breast:	n/a
17	chr7:150095084-150095134	HRPEpiC	eye:	n/a
18	chr7:150094161-150094211	PANC-1	pancreas:	n/a
19	chr7:150094161-150094211	Caco-2	colon:	n/a
20	chr7:150094161-150094211	IMR90	lung:	fetal
21	chr7:150094161-150094211	AoSMC	blood vessel:	n/a
22	chr7:150095084-150095134	Hela-S3	cervix:	n/a
23	chr7:150095084-150095134	HMEC	breast:	n/a
24	chr7:150094161-150094211	SK-N-SH_RA	brain:	n/a
25	chr7:150095084-150095134	GM12878	blood:	n/a
26	chr7:150094161-150094211	Hepatocyte	liver:	n/a
27	chr7:150095084-150095134	NHDF-neo	bronchial:	n/a
28	chr7:150094161-150094211	AG09319	gingival:	n/a
29	chr7:150094161-150094211	HAEpiC	amniotic membrane:	n/a
30	chr7:150094161-150094211	LNCaP	prostate:	n/a
31	chr7:150094161-150094211	GM19239	blood:	n/a
32	chr7:150094161-150094211	HCF	heart:	n/a
33	chr7:150094161-150094211	AG09309	skin:	n/a
34	chr7:150095084-150095134	NHBE	bronchial:	n/a
35	chr7:150095084-150095134	AoSMC	blood vessel:	n/a
36	chr7:150095084-150095134	IMR90	lung:	fetal
37	chr7:150094161-150094211	HRE	kidney:	n/a
38	chr7:150095084-150095134	HNPCEpiC	eye:	n/a
39	chr7:150094161-150094211	SAEC	small airway:	n/a
40	chr7:150095084-150095134	HCT-116	colon:	n/a
41	chr7:150094161-150094211	AG04450	lung:	fetal
42	chr7:150094161-150094211	SK-N-MC	brain:	n/a
43	chr7:150094161-150094211	Hela-S3	cervix:	n/a
44	chr7:150095084-150095134	HIPEpiC	eye:	n/a
45	chr7:150094161-150094211	A549	lung:	n/a
46	chr7:150094161-150094211	H1-hESC	embryonic stem cell:	embryo
47	chr7:150094161-150094211	BE2_C	brain:	n/a
48	chr7:150094161-150094211	NH-A	brain:	n/a
49	chr7:150095084-150095134	ECC-1	luminal epithelium:	n/a
50	chr7:150094161-150094211	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:150018966..150021782-chr7:150094675..150098930,7	K562	blood:
2	chr7:150069152..150071203-chr7:150094833..150097484,2	MCF-7	breast:
3	chr7:150079370..150081091-chr7:150094962..150096635,2	MCF-7	breast:
4	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
5	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF775	TF binding region
ZNF775	CpG island
ENSG00000240449	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000106526	chromatin interactions
ENSG00000127399	chromatin interactions
ENSG00000239377	chromatin interactions
ENSG00000196456	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368374618	chr7:150094028-150094029	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371142177	chr7:150094032-150094033	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs376085338	chr7:150094080-150094081	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368656037	chr7:150094081-150094082	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371575884	chr7:150094100-150094101	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs564663652	chr7:150094123-150094124	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs373730918	chr7:150094128-150094129	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201683988	chr7:150094148-150094149	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544005184	chr7:150094149-150094150	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs13308776	chr7:150094217-150094218	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563888702	chr7:150094241-150094242	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528957420	chr7:150094253-150094254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548808389	chr7:150094267-150094268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs559298938	chr7:150094332-150094333	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs55886205	chr7:150094352-150094353	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs528114919	chr7:150094362-150094363	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs551636451	chr7:150094379-150094380	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571234693	chr7:150094395-150094396	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs367911691	chr7:150094515-150094516	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550325399	chr7:150094519-150094520	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs200888705	chr7:150094523-150094524	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371708092	chr7:150094541-150094542	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs535894219	chr7:150094568-150094569	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs62503787	chr7:150094590-150094591	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7779451	chr7:150094655-150094656	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566052247	chr7:150094834-150094835	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs13225910	chr7:150094851-150094852	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7780011	chr7:150094853-150094854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373589647	chr7:150094867-150094868	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs578241649	chr7:150094885-150094886	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs544139090	chr7:150094892-150094893	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs375346701	chr7:150094933-150094934	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs369956053	chr7:150094934-150094935	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs372428835	chr7:150094937-150094938	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs376251078	chr7:150094992-150094993	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs527417474	chr7:150095013-150095014	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs202104407	chr7:150095076-150095077	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs111426426	chr7:150095077-150095078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs372897443	chr7:150095084-150095085	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs201798099	chr7:150095099-150095100	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs559217764	chr7:150095147-150095148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs371092824	chr7:150095149-150095150	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Congenital long qt syndrome	19214780	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150077400-150100800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:150077800-150096000	Weak transcription	Right Atrium	heart
3	chr7:150077800-150096800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:150077800-150097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:150078000-150100600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:150078200-150095200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:150078200-150097200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:150078200-150097200	Weak transcription	HUVEC	blood vessel
9	chr7:150078600-150096600	Weak transcription	NHEK	skin
10	chr7:150079800-150095600	Weak transcription	HMEC	breast
11	chr7:150080000-150100200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:150080200-150100200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:150080800-150096400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:150081000-150094800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:150085800-150094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150086000-150096800	Weak transcription	Osteobl	bone
17	chr7:150086200-150096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:150086400-150095000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:150086400-150097200	Weak transcription	Stomach Mucosa	stomach
20	chr7:150086400-150100400	Weak transcription	Brain Angular Gyrus	brain
21	chr7:150086400-150100600	Weak transcription	Fetal Brain Male	brain
22	chr7:150086600-150097000	Weak transcription	NH-A	brain
23	chr7:150086800-150094400	Weak transcription	Brain Substantia Nigra	brain
24	chr7:150086800-150095200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:150086800-150101000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:150087000-150101200	Weak transcription	Liver	Liver
27	chr7:150087400-150095800	Weak transcription	Psoas Muscle	Psoas
28	chr7:150087400-150097000	Weak transcription	HepG2	liver
29	chr7:150087600-150095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:150088000-150100800	Weak transcription	HSMMtube	muscle
31	chr7:150088000-150101000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:150088200-150095200	Weak transcription	Placenta	Placenta
33	chr7:150088200-150096800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150088200-150101200	Weak transcription	Fetal Kidney	kidney
35	chr7:150088400-150096600	Weak transcription	GM12878-XiMat	blood
36	chr7:150088400-150097200	Weak transcription	HSMM	muscle
37	chr7:150091000-150100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:150091600-150101000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:150091600-150101400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:150092000-150095800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:150092000-150096400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr7:150092000-150096600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:150092600-150094600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:150092600-150095000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:150092600-150095400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:150092600-150095800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:150092600-150096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:150092600-150096400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:150092600-150096600	Strong transcription	Brain Germinal Matrix	brain
50	chr7:150092600-150096600	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links