Variant report

Variant	esv3381778
Chromosome Location	chr7:6689258-6689693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
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	POLR2A	chr7:6689283-6689778	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6689218-6689268	HNPCEpiC	eye:	n/a
2	chr7:6689218-6689268	BJ	skin:	n/a
3	chr7:6689218-6689268	HRCEpiC	kidney:	n/a
4	chr7:6689218-6689268	Hepatocyte	liver:	n/a
5	chr7:6689218-6689268	Jurkat	blood:	n/a
6	chr7:6689218-6689268	GM12892	blood:	n/a
7	chr7:6689218-6689268	RPTEC	kidney:	n/a
8	chr7:6689218-6689268	AoSMC	blood vessel:	n/a
9	chr7:6689218-6689268	HAEpiC	amniotic membrane:	n/a
10	chr7:6689218-6689268	ovcar-3	ovarian:	n/a
11	chr7:6689218-6689268	ProgFib	skin:	n/a
12	chr7:6689218-6689268	SK-N-SH	brain:	n/a
13	chr7:6689218-6689268	Hela-S3	cervix:	n/a
14	chr7:6689218-6689268	HMEC	breast:	n/a
15	chr7:6689218-6689268	HUVEC	blood vessel:	n/a
16	chr7:6689218-6689268	NHDF-neo	bronchial:	n/a
17	chr7:6689218-6689268	NT2-D1	testis:	n/a
18	chr7:6689218-6689268	LNCaP	prostate:	n/a
19	chr7:6689218-6689268	PFSK-1	brain:	n/a
20	chr7:6689218-6689268	GM19239	blood:	n/a
21	chr7:6689218-6689268	HL-60	blood:	n/a
22	chr7:6689218-6689268	SK-N-MC	brain:	n/a
23	chr7:6689218-6689268	MCF10A-Er-Src	breast:	n/a
24	chr7:6689218-6689268	AG09319	gingival:	n/a
25	chr7:6689218-6689268	SAEC	small airway:	n/a
26	chr7:6689218-6689268	AG04449	skin:	fetal
27	chr7:6689218-6689268	K562	blood:	n/a
28	chr7:6689218-6689268	GM06990	blood:	n/a
29	chr7:6689218-6689268	HCM	heart:	n/a
30	chr7:6689218-6689268	MCF-7	breast:	n/a
31	chr7:6689218-6689268	SKMC	muscle:	n/a
32	chr7:6689218-6689268	T-47D	breast:	n/a
33	chr7:6689218-6689268	NB4	blood:	n/a
34	chr7:6689218-6689268	NH-A	brain:	n/a
35	chr7:6689218-6689268	ECC-1	luminal epithelium:	n/a
36	chr7:6689218-6689268	IMR90	lung:	fetal
37	chr7:6689218-6689268	A549	lung:	n/a
38	chr7:6689218-6689268	AG09309	skin:	n/a
39	chr7:6689218-6689268	Caco-2	colon:	n/a
40	chr7:6689218-6689268	CMK	blood:	n/a
41	chr7:6689218-6689268	H1-hESC	embryonic stem cell:	embryo
42	chr7:6689218-6689268	HepG2	liver:	n/a
43	chr7:6689218-6689268	NHBE	bronchial:	n/a
44	chr7:6689218-6689268	U87	brain:	n/a
45	chr7:6689218-6689268	AG04450	lung:	fetal
46	chr7:6689218-6689268	HRE	kidney:	n/a
47	chr7:6689218-6689268	PrEC	prostate:	n/a
48	chr7:6689218-6689268	HRPEpiC	eye:	n/a
49	chr7:6689218-6689268	HCF	heart:	n/a
50	chr7:6689218-6689268	HEEpiC	esophagus:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
2	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
3	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
4	chr7:6674209..6679608-chr7:6682918..6689628,9	K562	blood:
5	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
6	chr7:6689485..6692014-chr7:6722455..6725146,3	MCF-7	breast:
7	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
8	chr7:6650218..6651893-chr7:6687593..6690254,2	K562	blood:
9	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
10	chr7:6680149..6683134-chr7:6689202..6690780,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260054	TF binding region
ENSG00000260054	CpG island
ENSG00000205903	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183368298	chr7:6689356-6689357	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143629899	chr7:6689363-6689364	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535056386	chr7:6689439-6689440	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370594401	chr7:6689453-6689454	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545385247	chr7:6689457-6689458	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35134674	chr7:6689484-6689485	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188742264	chr7:6689490-6689491	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77986371	chr7:6689534-6689535	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549669412	chr7:6689540-6689541	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567884459	chr7:6689546-6689547	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115401931	chr7:6689556-6689557	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148085461	chr7:6689564-6689565	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565743787	chr7:6689568-6689569	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141010672	chr7:6689603-6689604	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550898315	chr7:6689607-6689608	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569676792	chr7:6689624-6689625	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62439670	chr7:6689636-6689637	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191793574	chr7:6689683-6689684	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574422031	chr7:6689687-6689688	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
Bladder cancer	21909424	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6678000-6691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6678200-6698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:6678400-6691600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:6678400-6691600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:6678600-6689600	Strong transcription	Fetal Intestine Small	intestine
6	chr7:6678800-6689600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:6678800-6691200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:6678800-6691400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:6679000-6689400	Strong transcription	Fetal Thymus	thymus
10	chr7:6679000-6689600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:6679000-6690000	Strong transcription	Fetal Brain Female	brain
12	chr7:6679000-6692200	Strong transcription	Primary T cells from cord blood	blood
13	chr7:6679000-6692600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:6679000-6695200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr7:6679000-6695400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr7:6679200-6690200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:6679200-6690200	Strong transcription	Lung	lung
18	chr7:6679200-6690200	Strong transcription	NHLF	lung
19	chr7:6679200-6695400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:6679400-6691600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:6679400-6691600	Strong transcription	Liver	Liver
22	chr7:6679400-6696400	Strong transcription	Brain Hippocampus Middle	brain
23	chr7:6679400-6703600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:6679600-6689400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:6679600-6689600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:6679600-6693200	Strong transcription	Rectal Smooth Muscle	rectum
27	chr7:6679600-6699200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:6679800-6689400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:6679800-6689400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:6679800-6690600	Strong transcription	Fetal Muscle Leg	muscle
31	chr7:6679800-6695600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:6680000-6691600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:6680000-6692600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:6680000-6692600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:6680000-6695200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:6680200-6690200	Strong transcription	Placenta	Placenta
37	chr7:6680200-6690800	Strong transcription	Esophagus	oesophagus
38	chr7:6680200-6691600	Strong transcription	Colonic Mucosa	Colon
39	chr7:6680200-6691800	Weak transcription	Fetal Brain Male	brain
40	chr7:6680400-6691000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:6680400-6691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:6680400-6691800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:6680400-6691800	Strong transcription	Ovary	ovary
44	chr7:6680400-6694600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr7:6680400-6695200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:6680400-6695600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr7:6680400-6698600	Weak transcription	Right Atrium	heart
48	chr7:6680600-6691800	Strong transcription	Gastric	stomach
49	chr7:6680600-6692600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:6680600-6695200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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