Variant report

Variant	nsv1027572
Chromosome Location	chr7:13093204-13130069
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:29)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
2	chr7:13056096..13059019-chr7:13091108..13093835,2	K562	blood:
3	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
4	chr7:13091634..13094570-chr7:13095004..13097471,2	K562	blood:
5	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
6	chr7:13091634..13094570-chr7:13095004..13097471,2	K562	blood:
7	chr7:13095947..13098043-chr7:13101119..13103304,2	MCF-7	breast:
8	chr7:13129497..13132046-chr7:13137053..13139000,2	K562	blood:
9	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
10	chr7:13099163..13101911-chr7:13106498..13108964,2	K562	blood:
11	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
12	chr7:12726504..12729722-chr7:13092003..13095862,3	K562	blood:
13	chr7:13095947..13098043-chr7:13101119..13103304,2	MCF-7	breast:
14	chr7:12730592..12732679-chr7:13123373..13125180,2	K562	blood:
15	chr7:13100363..13102009-chr7:13102221..13104284,2	K562	blood:
16	chr7:12724403..12726396-chr7:13103717..13106545,2	K562	blood:
17	chr7:13093779..13096148-chr7:13099334..13101239,2	K562	blood:
18	chr7:13085851..13087402-chr7:13106082..13107771,2	K562	blood:
19	chr7:13111805..13113325-chr7:13115222..13117599,2	K562	blood:
20	chr7:13100363..13102009-chr7:13102221..13104284,2	K562	blood:
21	chr7:12970290..12973079-chr7:13097205..13098974,2	K562	blood:
22	chr7:13093779..13096148-chr7:13099334..13101239,2	K562	blood:
23	chr7:13104322..13106884-chr7:13107040..13109324,2	K562	blood:
24	chr7:13094404..13096720-chr7:13097474..13099748,2	K562	blood:
25	chr7:13088931..13090663-chr7:13093892..13095543,2	K562	blood:
26	chr7:13091224..13092839-chr7:13093299..13095856,2	K562	blood:
27	chr7:13094404..13096720-chr7:13097474..13099748,2	K562	blood:
28	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:
29	chr7:13081105..13083508-chr7:13090393..13094038,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13107622-13107733	NONHSAT119248
2	lnc-ARL4A-7	chr7:13108158-13108539	NONHSAT119247
3	lnc-ARL4A-7	chr7:13107541-13107733	NONHSAT119247

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 1295 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534740690	chr7:13093209-13093210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373340837	chr7:13093213-13093214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34896792	chr7:13093230-13093231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542612499	chr7:13093238-13093239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562595896	chr7:13093241-13093242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181252371	chr7:13093257-13093258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186133151	chr7:13093278-13093279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189670214	chr7:13093317-13093318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183477641	chr7:13093353-13093354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113567026	chr7:13093409-13093410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369715322	chr7:13093414-13093415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78512748	chr7:13093417-13093418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186535213	chr7:13093441-13093442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574941688	chr7:13093443-13093444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576162689	chr7:13093451-13093452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564621680	chr7:13093452-13093453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578002519	chr7:13093511-13093512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117636172	chr7:13093531-13093532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565515725	chr7:13093569-13093570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10256462	chr7:13093601-13093602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373285270	chr7:13093610-13093611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549680477	chr7:13093643-13093644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559415917	chr7:13093644-13093645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528109244	chr7:13093659-13093660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551051217	chr7:13093661-13093662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571324541	chr7:13093675-13093676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190942297	chr7:13093694-13093695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550794799	chr7:13093696-13093697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567108305	chr7:13093722-13093723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536170599	chr7:13093827-13093828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552871899	chr7:13093838-13093839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572768924	chr7:13093850-13093851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74509271	chr7:13093895-13093896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377015247	chr7:13093917-13093918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149553181	chr7:13093919-13093920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578082846	chr7:13093939-13093940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543541691	chr7:13093949-13093950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386710473	chr7:13093951-13093952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574260786	chr7:13093952-13093953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79036442	chr7:13093954-13093955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375613580	chr7:13093989-13093990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183835736	chr7:13094010-13094011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528735148	chr7:13094027-13094028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188329765	chr7:13094081-13094082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17698226	chr7:13094103-13094104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144237930	chr7:13094108-13094109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79701507	chr7:13094117-13094118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566994558	chr7:13094126-13094127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550819837	chr7:13094127-13094128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529856645	chr7:13094138-13094139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13090200-13102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13091000-13097000	Weak transcription	K562	blood
3	chr7:13091400-13095800	Weak transcription	HUVEC	blood vessel
4	chr7:13091600-13097200	Weak transcription	A549	lung
5	chr7:13094800-13096400	Enhancers	Primary B cells from cord blood	blood
6	chr7:13094800-13097000	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:13095200-13095400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:13095200-13097800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:13095400-13095800	Enhancers	HSMMtube	muscle
11	chr7:13095400-13096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:13095400-13096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:13095400-13096200	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:13095400-13096200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr7:13095400-13097000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:13095600-13095800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:13095600-13096000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:13095600-13096000	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:13095600-13096000	Enhancers	Spleen	Spleen
20	chr7:13095800-13096800	Enhancers	HUVEC	blood vessel
21	chr7:13096000-13097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:13096000-13097000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:13096000-13097000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:13096000-13097200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:13096000-13097200	Weak transcription	Spleen	Spleen
26	chr7:13096200-13096800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:13096200-13097400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:13096400-13097200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr7:13096600-13097000	Enhancers	GM12878-XiMat	blood
30	chr7:13096800-13097600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:13096800-13097800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:13096800-13098000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:13097000-13097200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:13097000-13097200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:13097000-13097200	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:13097000-13097200	Flanking Active TSS	K562	blood
37	chr7:13097000-13097600	Active TSS	Adipose Nuclei	Adipose
38	chr7:13097000-13097600	Active TSS	Liver	Liver
39	chr7:13097000-13097600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr7:13097000-13097600	Active TSS	Right Atrium	heart
41	chr7:13097000-13097800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr7:13097000-13097800	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr7:13097000-13097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:13097000-13097800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:13097000-13098400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:13097200-13097400	Enhancers	Spleen	Spleen
47	chr7:13097200-13097400	Enhancers	A549	lung
48	chr7:13097200-13097600	Active TSS	Primary B cells from cord blood	blood
49	chr7:13097200-13097600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:13097200-13097600	Active TSS	Duodenum Smooth Muscle	Duodenum

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