Variant report

Variant	nsv1024653
Chromosome Location	chr7:13248423-13388594
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:46)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13319140..13319925-chr7:14729283..14730100,2	K562	blood:
2	chr7:13306388..13306972-chr7:14730968..14731509,2	K562	blood:
3	chr7:13328653..13330831-chr7:13330931..13333736,2	K562	blood:
4	chr7:13322023..13322580-chr7:14731384..14731908,2	MCF-7	breast:
5	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
6	chr7:12726758..12728673-chr7:13301799..13304378,2	MCF-7	breast:
7	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
8	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
9	chr7:13330558..13332098-chr7:13335283..13337491,2	K562	blood:
10	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
11	chr7:13319194..13320144-chr7:14730989..14732251,8	K562	blood:
12	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:
13	chr7:13321688..13322613-chr7:14730587..14732153,8	MCF-7	breast:
14	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
15	chr7:13321927..13322595-chr7:13765268..13765848,2	MCF-7	breast:
16	chr7:13328653..13330831-chr7:13330931..13333736,2	K562	blood:
17	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
18	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
19	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
20	chr7:13329395..13332098-chr7:13334412..13336783,2	K562	blood:
21	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
22	chr7:13338594..13340126-chr7:13765044..13766926,2	K562	blood:
23	chr7:13329395..13332098-chr7:13334412..13336783,2	K562	blood:
24	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
25	chr7:13317591..13319993-chr7:15056107..15057980,2	K562	blood:
26	chr7:13319346..13320250-chr7:13765396..13766149,2	MCF-7	breast:
27	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
28	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
29	chr7:5569725..5570695-chr7:13330190..13330690,2	HCT-116	colon:
30	chr7:12722970..12725427-chr7:13301212..13303550,2	MCF-7	breast:
31	chr7:13321441..13322985-chr7:13782052..13783356,4	MCF-7	breast:
32	chr7:13323017..13323546-chr7:13450292..13451095,2	MCF-7	breast:
33	chr7:12680874..12682903-chr7:13306421..13309219,2	K562	blood:
34	chr7:13321708..13322614-chr7:13781609..13782954,4	MCF-7	breast:
35	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
36	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
37	chr7:12724872..12725730-chr7:13302371..13302915,2	MCF-7	breast:
38	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
39	chr7:13330558..13332098-chr7:13335283..13337491,2	K562	blood:
40	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
41	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
42	chr7:12726495..12727305-chr7:13302682..13303235,2	MCF-7	breast:
43	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
44	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
45	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
46	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-5	chr7:13370483-13370690	NONHSAT119251
2	lnc-ETV1-5	chr7:13345351-13345669	NONHSAT119251
3	lnc-ETV1-5	chr7:13346253-13346410	NONHSAT119251
4	lnc-ETV1-2	chr7:13378826-13379144	XLOC_006358
5	lnc-ARL4A-1	chr7:13349834-13349948	XLOC_005988
6	lnc-ARL4A-7	chr7:13316359-13316473	NONHSAT119248
7	lnc-ETV1-5	chr7:13371162-13371199	NONHSAT119251
8	lnc-ETV1-2	chr7:13379728-13379885	XLOC_006358
9	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988
10	lnc-ETV1-5	chr7:13367594-13367712	NONHSAT119251

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000075624	chromatin interactions

Extended variants
information (count: 3244 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3244 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6962554	chr7:13250804-13250805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552718775	chr7:13250812-13250813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573547564	chr7:13250816-13250817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371460732	chr7:13250855-13250856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142411337	chr7:13250870-13250871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146626760	chr7:13250875-13250876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6962700	chr7:13250882-13250883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575093993	chr7:13250929-13250930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141776376	chr7:13250967-13250968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193220692	chr7:13250968-13250969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574080232	chr7:13250974-13250975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542979135	chr7:13250999-13251000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150470561	chr7:13251015-13251016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528742296	chr7:13251016-13251017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552105476	chr7:13251023-13251024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565622108	chr7:13251070-13251071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531114144	chr7:13251085-13251086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551228415	chr7:13251102-13251103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567330277	chr7:13251103-13251104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535982187	chr7:13251105-13251106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13246699	chr7:13251109-13251110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566350045	chr7:13251121-13251122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185258751	chr7:13251125-13251126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6963010	chr7:13251132-13251133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190352183	chr7:13251138-13251139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546404660	chr7:13251152-13251153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547772331	chr7:13251172-13251173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554488081	chr7:13251178-13251179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376257127	chr7:13251181-13251182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192055626	chr7:13251195-13251196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542763360	chr7:13251196-13251197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116449856	chr7:13251207-13251208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143433929	chr7:13251219-13251220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545456347	chr7:13251235-13251236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75924487	chr7:13251240-13251241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531258052	chr7:13251250-13251251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567761979	chr7:13251259-13251260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137901075	chr7:13251266-13251267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561334186	chr7:13251269-13251270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529750501	chr7:13251295-13251296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142419522	chr7:13251341-13251342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6967406	chr7:13251391-13251392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117241662	chr7:13251400-13251401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184149946	chr7:13251406-13251407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145975669	chr7:13251426-13251427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377120031	chr7:13251435-13251436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568784525	chr7:13251454-13251455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537763474	chr7:13251493-13251494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554707832	chr7:13251498-13251499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188358382	chr7:13251499-13251500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13250800-13251000	Enhancers	Pancreas	Pancrea
2	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea
3	chr7:13253800-13258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:13256600-13257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:13257200-13257600	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:13257400-13258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:13257400-13258200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:13257400-13258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:13257800-13258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:13257800-13258600	Enhancers	Colon Smooth Muscle	Colon
11	chr7:13258200-13258800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:13258400-13258600	Enhancers	Pancreas	Pancrea
13	chr7:13258600-13259200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:13268400-13272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:13270200-13272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:13270400-13271600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:13272000-13274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:13272400-13273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:13274400-13275000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:13275000-13275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
28	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:13279000-13279800	Enhancers	A549	lung
31	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:13279800-13280200	Enhancers	NH-A	brain
34	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:13279800-13280400	Flanking Active TSS	A549	lung
37	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:13280400-13280600	Enhancers	A549	lung
43	chr7:13297200-13297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:13299000-13301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:13299600-13300000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:13299600-13300200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:13299600-13300200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:13299600-13300200	Enhancers	K562	blood
49	chr7:13299800-13300000	Enhancers	A549	lung
50	chr7:13299800-13300200	Enhancers	Cortex derived primary cultured neurospheres	brain

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