Variant report

Variant	nsv470088
Chromosome Location	chr7:13272254-13307686
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	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
2	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
3	chr7:12730482..12733310-chr7:13301310..13304116,3	K562	blood:
4	chr7:12724872..12725730-chr7:13302371..13302915,2	MCF-7	breast:
5	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
6	chr7:13306388..13306972-chr7:14730968..14731509,2	K562	blood:
7	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:
8	chr7:12678305..12679413-chr7:13302026..13303206,8	K562	blood:
9	chr7:12726758..12728673-chr7:13301799..13304378,2	MCF-7	breast:
10	chr7:12726495..12727305-chr7:13302682..13303235,2	MCF-7	breast:
11	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
12	chr7:12723258..12723885-chr7:13302334..13303034,2	K562	blood:
13	chr7:12680874..12682903-chr7:13306421..13309219,2	K562	blood:
14	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
15	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
16	chr7:12564391..12565035-chr7:13302260..13303224,2	K562	blood:
17	chr7:12678214..12678881-chr7:13302310..13303158,3	MCF-7	breast:
18	chr7:12722970..12725427-chr7:13301212..13303550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 873 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10281788	chr7:13272254-13272255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79183239	chr7:13272273-13272274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563714835	chr7:13272301-13272302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144123230	chr7:13272307-13272308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370155527	chr7:13272321-13272322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565653301	chr7:13272338-13272339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528229581	chr7:13272382-13272383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188807515	chr7:13272396-13272397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571154028	chr7:13272417-13272418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192889873	chr7:13272430-13272431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556417798	chr7:13272435-13272436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570011284	chr7:13272446-13272447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147347883	chr7:13272473-13272474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139469380	chr7:13272485-13272486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552874409	chr7:13272513-13272514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572789080	chr7:13272573-13272574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572959982	chr7:13272580-13272581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10269440	chr7:13272610-13272611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531163769	chr7:13272624-13272625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564993409	chr7:13272632-13272633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184154172	chr7:13272644-13272645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543481561	chr7:13272683-13272684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563257979	chr7:13272685-13272686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188368858	chr7:13272718-13272719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17166914	chr7:13272732-13272733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559175074	chr7:13272754-13272755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528365367	chr7:13272801-13272802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551301634	chr7:13272809-13272810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571095160	chr7:13272811-13272812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530647743	chr7:13272841-13272842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368254234	chr7:13272850-13272851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570067166	chr7:13272859-13272860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544191015	chr7:13272861-13272862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535804221	chr7:13272869-13272870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180878839	chr7:13272892-13272893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535327842	chr7:13272899-13272900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558513958	chr7:13272915-13272916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183522451	chr7:13273014-13273015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17704489	chr7:13273028-13273029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73269620	chr7:13273064-13273065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532704772	chr7:13273081-13273082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573656931	chr7:13273107-13273108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189079309	chr7:13273124-13273125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116914673	chr7:13273162-13273163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67193743	chr7:13273163-13273164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544882473	chr7:13273169-13273170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368458709	chr7:13273238-13273239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550112294	chr7:13273252-13273253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530697615	chr7:13273359-13273360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550514428	chr7:13273360-13273361	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:46 , 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	chr7:13272000-13274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13272400-13273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:13274400-13275000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:13275000-13275400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
13	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:13279000-13279800	Enhancers	A549	lung
16	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:13279800-13280200	Enhancers	NH-A	brain
19	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:13279800-13280400	Flanking Active TSS	A549	lung
22	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:13280400-13280600	Enhancers	A549	lung
28	chr7:13297200-13297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:13299000-13301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:13299600-13300000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:13299600-13300200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:13299600-13300200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:13299600-13300200	Enhancers	K562	blood
34	chr7:13299800-13300000	Enhancers	A549	lung
35	chr7:13299800-13300200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:13300000-13301800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:13300000-13302400	Weak transcription	A549	lung
38	chr7:13300200-13301800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:13300200-13302000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:13300200-13302800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:13301800-13302600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:13301800-13302600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:13301800-13302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:13302000-13302600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:13302400-13302600	Enhancers	A549	lung
46	chr7:13302800-13303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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