Variant report

Variant	esv3345043
Chromosome Location	chr7:12444366-12444758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:12443087-12444423	H1-hESC	embryonic stem cell:	n/a	n/a
2	EP300	chr7:12444356-12444390	K562	blood:	n/a	n/a
3	MAX	chr7:12442982-12444439	K562	blood:	n/a	chr7:12443233-12443242
4	MAX	chr7:12442884-12444453	K562	blood:	n/a	chr7:12443233-12443242
5	MAX	chr7:12442718-12444384	HCT-116	colon:	n/a	chr7:12443233-12443242
6	MXI1	chr7:12442243-12444388	SK-N-SH	brain:	n/a	n/a
7	MYC	chr7:12442775-12444425	K562	blood:	n/a	chr7:12443233-12443242
8	MYC	chr7:12442849-12444429	K562	blood:	n/a	chr7:12443233-12443242
9	POLR2A	chr7:12442749-12444633	K562	blood:	n/a	n/a
10	POLR2A	chr7:12442849-12444540	K562	blood:	n/a	n/a
11	POLR2A	chr7:12442840-12444635	K562	blood:	n/a	n/a
12	POLR2A	chr7:12442556-12444467	K562	blood:	n/a	n/a
13	POLR2A	chr7:12442976-12444516	K562	blood:	n/a	n/a
14	POLR2A	chr7:12442779-12444617	K562	blood:	n/a	n/a
15	POLR2A	chr7:12442875-12444428	K562	blood:	n/a	n/a
16	POLR2A	chr7:12442500-12444710	K562	blood:	n/a	n/a
17	RCOR1	chr7:12443006-12444411	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12414352..12417133-chr7:12443944..12445537,2	K562	blood:

Variant related genes	Relation type
VWDE	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182264570	chr7:12444376-12444377	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145563914	chr7:12444384-12444385	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111352553	chr7:12444391-12444392	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs570796045	chr7:12444449-12444450	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs537712617	chr7:12444476-12444477	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs7778670	chr7:12444490-12444491	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550023519	chr7:12444502-12444503	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs367561065	chr7:12444518-12444519	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569143241	chr7:12444525-12444526	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148439919	chr7:12444532-12444533	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185806109	chr7:12444571-12444572	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555170375	chr7:12444581-12444582	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371774276	chr7:12444583-12444584	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571802838	chr7:12444603-12444604	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116321694	chr7:12444618-12444619	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144043827	chr7:12444625-12444626	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146445340	chr7:12444643-12444644	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192322508	chr7:12444666-12444667	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574161207	chr7:12444696-12444697	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140816325	chr7:12444697-12444698	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143146211	chr7:12444725-12444726	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6945067	chr7:12444731-12444732	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12438800-12445400	Active TSS	K562	blood
2	chr7:12439600-12444400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:12442400-12444400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:12443400-12444400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:12443600-12444400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:12443600-12444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:12443600-12444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:12443800-12444400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:12443800-12444400	Enhancers	Esophagus	oesophagus
10	chr7:12443800-12444400	Enhancers	Lung	lung
11	chr7:12443800-12444400	Active TSS	A549	lung
12	chr7:12443800-12444600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:12443800-12444600	Enhancers	Gastric	stomach
14	chr7:12444000-12444400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:12444000-12444400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:12444000-12444400	Enhancers	Placenta	Placenta
17	chr7:12444000-12444400	Bivalent Enhancer	HepG2	liver
18	chr7:12444000-12444400	Enhancers	HMEC	breast
19	chr7:12444000-12444400	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:12444000-12444600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:12444200-12444400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr7:12444200-12444400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr7:12444200-12444400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:12444200-12444400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:12444200-12444400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:12444200-12444400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:12444200-12444400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr7:12444200-12444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:12444200-12444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:12444600-12447200	Weak transcription	Gastric	stomach
31	chr7:12444600-12448800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:12444600-12448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links