Variant report

Variant	nsv966752
Chromosome Location	chr7:6403674-6408528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6407358..6411182-chr7:6412675..6416929,4	K562	blood:
2	chr7:6408313..6409948-chr7:6425652..6428069,2	MCF-7	breast:
3	chr7:6402943..6405122-chr7:6514612..6517402,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAC1-1	chr7:6405329-6405671	expReg_chr7_541_+

Variant related genes	Relation type
ENSG00000136238	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536552515	chr7:6403676-6403677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs548828461	chr7:6403682-6403683	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs368952841	chr7:6403683-6403684	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs185074189	chr7:6403685-6403686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560171793	chr7:6403719-6403720	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs56794632	chr7:6403746-6403747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558519316	chr7:6403752-6403753	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs576972114	chr7:6403764-6403765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs538291110	chr7:6403771-6403772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs376696229	chr7:6403782-6403783	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147830540	chr7:6403789-6403790	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs145176410	chr7:6403850-6403851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548876075	chr7:6403915-6403916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552321709	chr7:6403936-6403937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575363115	chr7:6403950-6403951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75873940	chr7:6404051-6404052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561266144	chr7:6404070-6404071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532760994	chr7:6404114-6404115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573156863	chr7:6404155-6404156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540268593	chr7:6404175-6404176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569542877	chr7:6404186-6404187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4530928	chr7:6404197-6404198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141419726	chr7:6404208-6404209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562954495	chr7:6404212-6404213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373943543	chr7:6404232-6404233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76995951	chr7:6404245-6404246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115760484	chr7:6404256-6404257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78745308	chr7:6404258-6404259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181688534	chr7:6404271-6404272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186340876	chr7:6404287-6404288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570474046	chr7:6404288-6404289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537971251	chr7:6404315-6404316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556594823	chr7:6404320-6404321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189524186	chr7:6404335-6404336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150384666	chr7:6404375-6404376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554792679	chr7:6404397-6404398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180704163	chr7:6404400-6404401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535465882	chr7:6404442-6404443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558595274	chr7:6404471-6404472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200413027	chr7:6404489-6404490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62454350	chr7:6404493-6404494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377363111	chr7:6404495-6404496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576872771	chr7:6404561-6404562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550135541	chr7:6404575-6404576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568656948	chr7:6404576-6404577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369996168	chr7:6404592-6404593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137893116	chr7:6404603-6404604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560268326	chr7:6404606-6404607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527989978	chr7:6404615-6404616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185956227	chr7:6404619-6404620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6388800-6409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:6400800-6406800	Weak transcription	K562	blood
3	chr7:6401400-6407200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:6401800-6407000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:6402400-6404400	Enhancers	Fetal Intestine Large	intestine
6	chr7:6402400-6404400	Enhancers	Fetal Intestine Small	intestine
7	chr7:6403600-6403800	Bivalent Enhancer	HepG2	liver
8	chr7:6403600-6404000	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:6403600-6404400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:6403800-6404000	Enhancers	Colonic Mucosa	Colon
11	chr7:6403800-6404200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:6404000-6406400	Weak transcription	Colonic Mucosa	Colon
13	chr7:6404000-6406400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:6404200-6406800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:6404400-6406400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:6404400-6406400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:6404400-6406800	Weak transcription	Fetal Intestine Small	intestine
18	chr7:6405600-6405800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:6405800-6407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:6406400-6408000	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:6406400-6408200	Enhancers	Colonic Mucosa	Colon
22	chr7:6406400-6408200	Enhancers	Fetal Intestine Large	intestine
23	chr7:6406400-6408200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:6406800-6407200	Enhancers	K562	blood
25	chr7:6406800-6407400	Enhancers	Hela-S3	cervix
26	chr7:6406800-6408200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:6406800-6408400	Enhancers	Fetal Intestine Small	intestine
28	chr7:6407000-6408200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:6407200-6407400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:6407200-6407600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:6407200-6407600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:6407200-6407600	Enhancers	Adipose Nuclei	Adipose
33	chr7:6407200-6407600	Enhancers	HSMM	muscle
34	chr7:6407200-6407600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr7:6407200-6407800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:6407200-6407800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:6407200-6407800	Enhancers	Brain Anterior Caudate	brain
38	chr7:6407200-6407800	Enhancers	HepG2	liver
39	chr7:6407200-6407800	Flanking Active TSS	K562	blood
40	chr7:6407200-6408000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:6407200-6408000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:6407200-6408000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:6407200-6408000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr7:6407200-6408000	Enhancers	Stomach Mucosa	stomach
45	chr7:6407200-6408000	Enhancers	A549	lung
46	chr7:6407200-6408000	Enhancers	NHDF-Ad	bronchial
47	chr7:6407200-6408000	Enhancers	NHEK	skin
48	chr7:6407200-6408200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:6407200-6408200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:6407200-6408200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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