Variant report

Variant	esv3389111
Chromosome Location	chr7:13006761-13030098
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:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
2	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
3	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:
4	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
5	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
6	chr7:12753447..12755088-chr7:13019924..13021549,2	K562	blood:
7	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
8	chr7:13007791..13010494-chr7:13016088..13018337,2	K562	blood:
9	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
10	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:
11	chr7:13007791..13010494-chr7:13016088..13018337,2	K562	blood:
12	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
13	chr7:13002292..13005736-chr7:13007182..13009562,4	K562	blood:
14	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
15	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
16	chr7:13002443..13004669-chr7:13013594..13016442,2	K562	blood:
17	chr7:12724668..12727132-chr7:13005066..13007173,2	MCF-7	breast:
18	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
19	chr7:13005159..13006862-chr7:13012261..13014568,2	K562	blood:
20	chr7:13003252..13004931-chr7:13007196..13009928,2	K562	blood:
21	chr7:13015320..13017898-chr7:13018830..13021112,2	K562	blood:
22	chr7:12726106..12728466-chr7:13017401..13019789,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-6	chr7:13006732-13006797	NONHSAT119246

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 1005 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1005 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139872361	chr7:13006777-13006778	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs189069569	chr7:13006810-13006811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541721301	chr7:13006875-13006876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28379492	chr7:13006884-13006885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577701207	chr7:13006898-13006899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543159896	chr7:13006908-13006909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139361602	chr7:13006924-13006925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573772481	chr7:13006942-13006943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181416192	chr7:13006954-13006955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531843896	chr7:13006962-13006963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372431995	chr7:13006977-13006978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542844570	chr7:13007015-13007016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185555710	chr7:13007034-13007035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78655900	chr7:13007077-13007078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143007860	chr7:13007100-13007101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564151387	chr7:13007111-13007112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533111326	chr7:13007121-13007122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543842543	chr7:13007123-13007124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146150610	chr7:13007132-13007133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535562599	chr7:13007133-13007134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140199628	chr7:13007211-13007212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549581131	chr7:13007216-13007217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189457522	chr7:13007221-13007222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143974225	chr7:13007274-13007275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566270907	chr7:13007303-13007304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535379007	chr7:13007325-13007326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111752591	chr7:13007336-13007337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180753729	chr7:13007341-13007342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537017209	chr7:13007369-13007370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556671351	chr7:13007398-13007399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573710942	chr7:13007459-13007460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187457219	chr7:13007515-13007516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2192675	chr7:13007537-13007538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117744197	chr7:13007638-13007639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4721169	chr7:13007674-13007675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564808712	chr7:13007684-13007685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148627028	chr7:13007693-13007694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550182962	chr7:13007713-13007714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563511373	chr7:13007714-13007715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529432913	chr7:13007723-13007724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142115410	chr7:13007778-13007779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562405124	chr7:13007809-13007810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566284877	chr7:13007867-13007868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535176710	chr7:13007868-13007869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151181141	chr7:13007882-13007883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141321855	chr7:13007905-13007906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537325295	chr7:13007928-13007929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375072547	chr7:13007948-13007949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573547962	chr7:13007950-13007951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574020258	chr7:13007973-13007974	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12994800-13010000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:13002200-13007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13004600-13010400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:13005000-13008400	Weak transcription	K562	blood
5	chr7:13005800-13007000	Weak transcription	HepG2	liver
6	chr7:13006000-13010800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:13006200-13006800	Enhancers	Stomach Mucosa	stomach
8	chr7:13006400-13009000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:13007000-13007200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:13007000-13007200	Enhancers	Liver	Liver
11	chr7:13007000-13007600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:13007000-13009000	Enhancers	HepG2	liver
13	chr7:13007200-13008800	Weak transcription	Liver	Liver
14	chr7:13007400-13009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:13008400-13009000	Enhancers	K562	blood
16	chr7:13008800-13009000	Enhancers	Liver	Liver
17	chr7:13009000-13009800	Weak transcription	Liver	Liver
18	chr7:13009000-13010400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:13009800-13010800	Enhancers	Liver	Liver
20	chr7:13010000-13010600	Enhancers	Brain Germinal Matrix	brain
21	chr7:13010000-13010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:13010000-13010800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:13010400-13010800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:13010400-13010800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:13010400-13011200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:13010800-13014000	Weak transcription	Liver	Liver
27	chr7:13014000-13015400	Enhancers	Liver	Liver
28	chr7:13015000-13015200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:13015400-13018000	Weak transcription	Liver	Liver
30	chr7:13015800-13016000	Enhancers	Colon Smooth Muscle	Colon
31	chr7:13018000-13019200	Active TSS	Liver	Liver
32	chr7:13018400-13018800	Enhancers	A549	lung
33	chr7:13018800-13019200	Flanking Active TSS	A549	lung
34	chr7:13018800-13019200	Enhancers	HepG2	liver
35	chr7:13019200-13019600	Enhancers	Liver	Liver
36	chr7:13019200-13020000	Enhancers	A549	lung
37	chr7:13019200-13024400	Weak transcription	HepG2	liver
38	chr7:13019600-13021600	Weak transcription	Liver	Liver
39	chr7:13020000-13027000	Weak transcription	A549	lung
40	chr7:13021600-13025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:13021600-13025200	Enhancers	Liver	Liver
42	chr7:13023200-13025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:13023400-13023800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:13023600-13023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:13023800-13024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:13023800-13024800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:13024400-13025200	Enhancers	HepG2	liver
48	chr7:13024400-13027400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:13024800-13025000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:13024800-13025200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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