Variant report

Variant	nsv887654
Chromosome Location	chr7:13268915-13315693
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
2	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
3	chr7:12722970..12725427-chr7:13301212..13303550,2	MCF-7	breast:
4	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
5	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
6	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
7	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
8	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
9	chr7:12724872..12725730-chr7:13302371..13302915,2	MCF-7	breast:
10	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
11	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
12	chr7:12726495..12727305-chr7:13302682..13303235,2	MCF-7	breast:
13	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
14	chr7:12726758..12728673-chr7:13301799..13304378,2	MCF-7	breast:
15	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
16	chr7:13306388..13306972-chr7:14730968..14731509,2	K562	blood:
17	chr7:12680874..12682903-chr7:13306421..13309219,2	K562	blood:
18	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 1024 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1024 , 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	rs7780368	chr7:13268915-13268916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77112224	chr7:13268930-13268931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537468227	chr7:13268959-13268960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551758435	chr7:13268969-13268970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71538821	chr7:13268973-13268974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185154661	chr7:13268988-13268989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74323978	chr7:13268996-13268997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553297240	chr7:13269013-13269014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367981093	chr7:13269029-13269030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144841438	chr7:13269031-13269032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189677221	chr7:13269158-13269159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567555499	chr7:13269166-13269167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558266703	chr7:13269216-13269217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536870460	chr7:13269218-13269219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574872579	chr7:13269232-13269233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181524045	chr7:13269261-13269262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370818776	chr7:13269262-13269263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561194953	chr7:13269280-13269281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185418854	chr7:13269288-13269289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540567257	chr7:13269298-13269299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10253676	chr7:13269300-13269301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74750401	chr7:13269302-13269303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551880694	chr7:13269307-13269308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559053361	chr7:13269323-13269324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188316507	chr7:13269326-13269327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530899612	chr7:13269339-13269340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10227193	chr7:13269345-13269346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567903991	chr7:13269367-13269368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180826718	chr7:13269374-13269375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547314372	chr7:13269402-13269403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10227316	chr7:13269452-13269453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557828584	chr7:13269491-13269492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538876382	chr7:13269533-13269534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558203553	chr7:13269542-13269543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78942136	chr7:13269552-13269553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74416237	chr7:13269599-13269600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10215734	chr7:13269625-13269626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144190711	chr7:13269685-13269686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543773017	chr7:13269699-13269700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563589503	chr7:13269706-13269707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540137366	chr7:13269744-13269745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560471966	chr7:13269767-13269768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529050834	chr7:13269789-13269790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374982114	chr7:13269790-13269791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542809787	chr7:13269806-13269807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577081561	chr7:13269809-13269810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559544694	chr7:13269870-13269871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80304402	chr7:13269886-13269887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186272003	chr7:13269901-13269902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571333282	chr7:13269909-13269910	Enhancers	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13268400-13272400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:13270200-13272000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13270400-13271600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:13272000-13274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:13272400-13273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:13274400-13275000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:13275000-13275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
15	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:13279000-13279800	Enhancers	A549	lung
18	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:13279800-13280200	Enhancers	NH-A	brain
21	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:13279800-13280400	Flanking Active TSS	A549	lung
24	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:13280400-13280600	Enhancers	A549	lung
30	chr7:13297200-13297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:13299000-13301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:13299600-13300000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:13299600-13300200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:13299600-13300200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:13299600-13300200	Enhancers	K562	blood
36	chr7:13299800-13300000	Enhancers	A549	lung
37	chr7:13299800-13300200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:13300000-13301800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:13300000-13302400	Weak transcription	A549	lung
40	chr7:13300200-13301800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:13300200-13302000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:13300200-13302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:13301800-13302600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:13301800-13302600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:13301800-13302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:13302000-13302600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:13302400-13302600	Enhancers	A549	lung
48	chr7:13302800-13303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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