Variant report

Variant	nsv1031075
Chromosome Location	chr7:11136339-11187167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:11175371-11175473	K562	blood:	n/a	n/a
2	BATF	chr7:11160374-11160600	GM12878	blood:	n/a	n/a
3	BRCA1	chr7:11167087-11167179	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:11169609-11170090	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr7:11160285-11160708	GM12878	blood:	n/a	n/a
6	CTCF	chr7:11169973-11169981	K562	blood:	n/a	n/a
7	CUX1	chr7:11168345-11168348	K562	blood:	n/a	n/a
8	EBF1	chr7:11167092-11167334	GM12878	blood:	n/a	chr7:11167213-11167224
9	EP300	chr7:11143284-11143367	K562	blood:	n/a	n/a
10	EP300	chr7:11169708-11169991	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr7:11167671-11167952	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr7:11160180-11160371	GM12878	blood:	n/a	n/a
13	EP300	chr7:11144281-11144303	GM12878	blood:	n/a	n/a
14	EP300	chr7:11169464-11170283	SK-N-SH	brain:	n/a	n/a
15	EP300	chr7:11164793-11164863	K562	blood:	n/a	n/a
16	EP300	chr7:11173285-11173557	K562	blood:	n/a	chr7:11173479-11173488 chr7:11173409-11173417
17	EP300	chr7:11167470-11168141	SK-N-SH	brain:	n/a	n/a
18	FOSL2	chr7:11169575-11170150	SK-N-SH	brain:	n/a	n/a
19	FOXA1	chr7:11164846-11165176	T-47D	breast:	n/a	chr7:11165003-11165015
20	GATA2	chr7:11155742-11156016	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr7:11155395-11155595	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr7:11145487-11145683	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr7:11149611-11149704	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr7:11154753-11154762	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:11142201-11142258	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr7:11180780-11181017	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:11155165-11156073	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr7:11143133-11143460	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:11167449-11168266	SK-N-SH	brain:	n/a	chr7:11167831-11167847 chr7:11167838-11167845 chr7:11168025-11168035 chr7:11167833-11167845
30	GATA3	chr7:11155224-11156196	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr7:11145210-11145577	T-47D	breast:	n/a	n/a
32	GATA3	chr7:11176635-11176750	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr7:11169406-11170286	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr7:11167296-11168597	SK-N-SH	brain:	n/a	chr7:11167831-11167847 chr7:11167838-11167845 chr7:11168025-11168035 chr7:11167833-11167845
35	GATA3	chr7:11145176-11145669	T-47D	breast:	n/a	n/a
36	GATA3	chr7:11178284-11178329	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr7:11167637-11168017	SH-SY5Y	brain:	n/a	chr7:11167831-11167847 chr7:11167838-11167845 chr7:11167833-11167845
38	GATA3	chr7:11169252-11170330	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr7:11174221-11174353	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr7:11170854-11170943	SH-SY5Y	brain:	n/a	n/a
41	IRF1	chr7:11185009-11185068	K562	blood:	n/a	n/a
42	JUN	chr7:11144676-11144795	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUN	chr7:11169070-11169377	K562	blood:	n/a	n/a
44	JUN	chr7:11167086-11167179	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr7:11167551-11168189	SK-N-SH	brain:	n/a	n/a
46	JUND	chr7:11169483-11170188	SK-N-SH	brain:	n/a	n/a
47	JUND	chr7:11167585-11168101	SK-N-SH	brain:	n/a	n/a
48	KAP1	chr7:11159322-11159653	K562	blood:	n/a	n/a
49	KAP1	chr7:11165845-11166161	K562	blood:	n/a	chr7:11165876-11165885
50	KAP1	chr7:11158250-11158795	K562	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11141298..11142996-chr7:11151745..11153861,2	MCF-7	breast:
2	chr7:11130768..11133783-chr7:11134322..11137393,4	K562	blood:
3	chr7:11179754..11182412-chr7:11187476..11189973,2	K562	blood:
4	chr7:11169416..11171057-chr7:11171117..11173550,2	K562	blood:
5	chr7:11141298..11142996-chr7:11151745..11153861,2	MCF-7	breast:
6	chr7:11149421..11151035-chr7:11153801..11157843,3	K562	blood:
7	chr7:11162789..11165137-chr7:11166828..11168631,2	K562	blood:
8	chr7:11169416..11171057-chr7:11171117..11173550,2	K562	blood:
9	chr7:11141677..11144293-chr7:11222755..11224742,2	K562	blood:
10	chr7:11140028..11142682-chr7:11145035..11146787,2	K562	blood:
11	chr7:11146142..11148658-chr7:11151256..11153162,2	K562	blood:
12	chr7:11124384..11127270-chr7:11131542..11136731,4	K562	blood:
13	chr7:11140028..11142682-chr7:11145035..11147597,3	K562	blood:
14	chr7:5013239..5014028-chr7:11185489..11186384,2	NB4	blood:
15	chr7:11175308..11177163-chr7:11367863..11369367,2	MCF-7	breast:
16	chr7:11140028..11142682-chr7:11145035..11147597,3	K562	blood:
17	chr7:11162615..11164289-chr7:11165693..11168328,2	K562	blood:
18	chr7:11162615..11164289-chr7:11165693..11168328,2	K562	blood:
19	chr7:11166607..11168180-chr7:11168609..11170188,2	MCF-7	breast:
20	chr7:11166607..11168180-chr7:11168609..11170188,2	MCF-7	breast:
21	chr7:11136221..11139675-chr7:11144358..11148872,4	K562	blood:
22	chr7:11140028..11142682-chr7:11145035..11146787,2	K562	blood:
23	chr7:11012606..11015240-chr7:11166727..11169294,2	MCF-7	breast:
24	chr7:11162789..11165137-chr7:11166828..11168631,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PHF14	hsa-miR-155-5p	chr7:11142813-11142835
2	PHF14	hsa-miR-155-5p	chr7:11142799-11142820
3	PHF14	hsa-miR-155-5p	chr7:11148709-11148731

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000106443	chromatin interactions
ENSG00000196204	chromatin interactions

Extended variants
information (count: 1836 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17347241	chr7:11136339-11136340	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10274322	chr7:11136365-11136366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556458859	chr7:11136389-11136390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552274447	chr7:11136390-11136391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576346866	chr7:11136440-11136441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187930669	chr7:11136524-11136525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115326219	chr7:11136563-11136564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550328010	chr7:11136650-11136651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs572460932	chr7:11136683-11136684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541484632	chr7:11136693-11136694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191585898	chr7:11136728-11136729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376562531	chr7:11136743-11136744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368974079	chr7:11136757-11136758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144345552	chr7:11136769-11136770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182287353	chr7:11136774-11136775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529473392	chr7:11136789-11136790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549150553	chr7:11136808-11136809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534822884	chr7:11136881-11136882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527418173	chr7:11136895-11136896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547424348	chr7:11136950-11136951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149140593	chr7:11136954-11136955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532934159	chr7:11136991-11136992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550148583	chr7:11137045-11137046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569946036	chr7:11137053-11137054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535684354	chr7:11137057-11137058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17163954	chr7:11137080-11137081	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142248232	chr7:11137092-11137093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551512364	chr7:11137096-11137097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547678873	chr7:11137098-11137099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558221032	chr7:11137138-11137139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371273610	chr7:11137213-11137214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113153617	chr7:11137247-11137248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543389217	chr7:11137273-11137274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557265020	chr7:11137341-11137342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549564487	chr7:11137344-11137345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574009953	chr7:11137393-11137394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186807689	chr7:11137447-11137448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368052787	chr7:11137454-11137455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373917731	chr7:11137456-11137457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566196417	chr7:11137485-11137486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535008377	chr7:11137515-11137516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559696200	chr7:11137552-11137553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528649938	chr7:11137575-11137576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540801106	chr7:11137726-11137727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564184757	chr7:11137779-11137780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532833824	chr7:11137809-11137810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs151227623	chr7:11137839-11137840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192389271	chr7:11137862-11137863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184967329	chr7:11137871-11137872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187411469	chr7:11137873-11137874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Autism	22495309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
3	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
4	chr7:11076400-11193200	Weak transcription	Ovary	ovary
5	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:11086600-11143800	Weak transcription	HUVEC	blood vessel
7	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
8	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
9	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:11102600-11144000	Weak transcription	Liver	Liver
12	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:11107600-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
19	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:11109000-11143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:11113600-11166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:11113800-11155600	Weak transcription	Brain Germinal Matrix	brain
24	chr7:11114400-11143800	Weak transcription	Fetal Thymus	thymus
25	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
26	chr7:11114800-11142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:11118000-11199000	Weak transcription	HSMM	muscle
28	chr7:11122800-11153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:11122800-11169800	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:11123000-11136400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:11123000-11139000	Weak transcription	Fetal Stomach	stomach
33	chr7:11123000-11144200	Weak transcription	GM12878-XiMat	blood
34	chr7:11123000-11161000	Weak transcription	HSMMtube	muscle
35	chr7:11123000-11163000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:11123000-11173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:11123000-11177800	Weak transcription	HepG2	liver
38	chr7:11123200-11155800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:11123400-11169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:11123600-11142000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:11123600-11161000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:11123800-11138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:11124800-11151000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:11125000-11144200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:11125000-11162200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:11125400-11188000	Weak transcription	Small Intestine	intestine
47	chr7:11125800-11167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:11126000-11139200	Weak transcription	Esophagus	oesophagus
49	chr7:11126200-11142400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:11129000-11142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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