Variant report

Variant	esv3497869
Chromosome Location	chr7:13021402-13029775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
2	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
3	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
4	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
5	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
6	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
7	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
8	chr7:12753447..12755088-chr7:13019924..13021549,2	K562	blood:
9	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:

No data

Extended variants
information (count: 357 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546657222	chr7:13021519-13021520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114780408	chr7:13021605-13021606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183223233	chr7:13021606-13021607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558738243	chr7:13021647-13021648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35343825	chr7:13021648-13021649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200197732	chr7:13021651-13021652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10244618	chr7:13021660-13021661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10258241	chr7:13021673-13021674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186019887	chr7:13021675-13021676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141272162	chr7:13021680-13021681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555031889	chr7:13021697-13021698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10258251	chr7:13021705-13021706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190333757	chr7:13021707-13021708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562695576	chr7:13021747-13021748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531500695	chr7:13021808-13021809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113165430	chr7:13021819-13021820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548391164	chr7:13021836-13021837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182529619	chr7:13021860-13021861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372714923	chr7:13021862-13021863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112558587	chr7:13021889-13021890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527590060	chr7:13021911-13021912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10258504	chr7:13021915-13021916	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188140288	chr7:13021972-13021973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145052465	chr7:13021976-13021977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552222722	chr7:13021990-13021991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138902461	chr7:13021992-13021993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140541495	chr7:13022068-13022069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10229497	chr7:13022109-13022110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575122471	chr7:13022124-13022125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112279427	chr7:13022130-13022131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373478040	chr7:13022140-13022141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553739287	chr7:13022151-13022152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576735250	chr7:13022232-13022233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573413204	chr7:13022236-13022237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34562225	chr7:13022246-13022247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577400285	chr7:13022282-13022283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570670020	chr7:13022311-13022312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545930019	chr7:13022418-13022419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138311520	chr7:13022502-13022503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10232934	chr7:13022538-13022539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542091127	chr7:13022570-13022571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192372396	chr7:13022586-13022587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10262322	chr7:13022593-13022594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540919326	chr7:13022610-13022611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560560170	chr7:13022625-13022626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532341120	chr7:13022646-13022647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552139201	chr7:13022652-13022653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10248806	chr7:13022671-13022672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531690835	chr7:13022672-13022673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548805749	chr7:13022676-13022677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13019200-13024400	Weak transcription	HepG2	liver
2	chr7:13019600-13021600	Weak transcription	Liver	Liver
3	chr7:13020000-13027000	Weak transcription	A549	lung
4	chr7:13021600-13025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:13021600-13025200	Enhancers	Liver	Liver
6	chr7:13023200-13025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:13023400-13023800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13023600-13023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:13023800-13024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:13023800-13024800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:13024400-13025200	Enhancers	HepG2	liver
12	chr7:13024400-13027400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:13024800-13025000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:13024800-13025200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:13024800-13025200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:13024800-13025200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:13024800-13025200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:13024800-13025200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:13024800-13025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:13024800-13025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13024800-13025200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:13024800-13025200	Enhancers	Gastric	stomach
23	chr7:13024800-13025200	Enhancers	Pancreas	Pancrea
24	chr7:13024800-13025200	Enhancers	K562	blood
25	chr7:13024800-13026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:13024800-13026400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:13024800-13027200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:13024800-13027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:13025000-13025200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:13025000-13025800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:13025000-13027000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:13025200-13026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:13025200-13026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:13025200-13027800	Weak transcription	Pancreas	Pancrea
35	chr7:13025200-13029000	Weak transcription	Liver	Liver
36	chr7:13025400-13025800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:13026000-13026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:13026200-13027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:13026400-13027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:13026600-13026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:13026800-13027000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:13026800-13027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:13027000-13027200	Enhancers	Small Intestine	intestine
44	chr7:13027000-13027400	Enhancers	A549	lung
45	chr7:13027400-13029000	Weak transcription	A549	lung
46	chr7:13027800-13028200	Enhancers	Pancreas	Pancrea
47	chr7:13028800-13029400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:13028800-13029400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:13029000-13029400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:13029000-13029400	Enhancers	NHEK	skin

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