Variant report

Variant	nsv1026282
Chromosome Location	chr7:11124528-11163828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:11128773-11128831	K562	blood:	n/a	n/a
2	BATF	chr7:11160374-11160600	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:11124794-11124970	HepG2	liver:	n/a	chr7:11124881-11124894
4	CEBPB	chr7:11124748-11125014	K562	blood:	n/a	chr7:11124881-11124894
5	CREB1	chr7:11160285-11160708	GM12878	blood:	n/a	n/a
6	EP300	chr7:11143284-11143367	K562	blood:	n/a	n/a
7	EP300	chr7:11144281-11144303	GM12878	blood:	n/a	n/a
8	EP300	chr7:11130432-11130758	SK-N-SH_RA	brain:	n/a	chr7:11130586-11130595
9	EP300	chr7:11130437-11130686	SK-N-SH_RA	brain:	n/a	chr7:11130586-11130595
10	EP300	chr7:11160180-11160371	GM12878	blood:	n/a	n/a
11	GATA2	chr7:11155742-11156016	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr7:11149611-11149704	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr7:11155224-11156196	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr7:11145176-11145669	T-47D	breast:	n/a	n/a
15	GATA3	chr7:11145210-11145577	T-47D	breast:	n/a	n/a
16	GATA3	chr7:11142201-11142258	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:11143133-11143460	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr7:11155165-11156073	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr7:11145487-11145683	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr7:11154753-11154762	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr7:11155395-11155595	SH-SY5Y	brain:	n/a	n/a
22	JUN	chr7:11144676-11144795	H1-hESC	embryonic stem cell:	n/a	n/a
23	KAP1	chr7:11159322-11159653	K562	blood:	n/a	n/a
24	KAP1	chr7:11158250-11158795	K562	blood:	n/a	n/a
25	MAFF	chr7:11149320-11149627	K562	blood:	n/a	chr7:11149478-11149496
26	MAFF	chr7:11149318-11149663	HepG2	liver:	n/a	chr7:11149478-11149496
27	MAFK	chr7:11149306-11149660	IMR90	lung:	n/a	chr7:11149479-11149494
28	MAFK	chr7:11149315-11149662	HepG2	liver:	n/a	chr7:11149479-11149494
29	MAFK	chr7:11130804-11131106	HepG2	liver:	n/a	n/a
30	MAFK	chr7:11149366-11149559	H1-hESC	embryonic stem cell:	n/a	chr7:11149479-11149494
31	MAFK	chr7:11146052-11146225	HepG2	liver:	n/a	n/a
32	MAFK	chr7:11149333-11149648	K562	blood:	n/a	chr7:11149479-11149494
33	MAFK	chr7:11149364-11149599	Hela-S3	cervix:	n/a	chr7:11149479-11149494
34	MAFK	chr7:11130897-11131085	HepG2	liver:	n/a	n/a
35	MAFK	chr7:11149299-11149669	HepG2	liver:	n/a	chr7:11149479-11149494
36	MAFK	chr7:11146110-11146290	HepG2	liver:	n/a	n/a
37	MAZ	chr7:11132596-11132618	HepG2	liver:	n/a	n/a
38	MEF2A	chr7:11159613-11160046	GM12878	blood:	n/a	n/a
39	MXI1	chr7:11138112-11138197	K562	blood:	n/a	n/a
40	MYC	chr7:11153251-11153297	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFIC	chr7:11159879-11160727	GM12878	blood:	n/a	n/a
42	NFYA	chr7:11153710-11153771	GM12878	blood:	n/a	n/a
43	NFYA	chr7:11163822-11164002	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:11156679-11157038	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr7:11156552-11156752	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr7:11134431-11134617	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr7:11149650-11149695	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr7:11163448-11163459	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:11133221-11133499	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:11147641-11148027	HepG2	liver:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11141677..11144293-chr7:11222755..11224742,2	K562	blood:
2	chr7:11124384..11127270-chr7:11131542..11136731,4	K562	blood:
3	chr7:11126725..11129133-chr7:11132639..11135110,2	MCF-7	breast:
4	chr7:11140028..11142682-chr7:11145035..11146787,2	K562	blood:
5	chr7:11130768..11133783-chr7:11134322..11137393,4	K562	blood:
6	chr7:11140028..11142682-chr7:11145035..11146787,2	K562	blood:
7	chr7:11162789..11165137-chr7:11166828..11168631,2	K562	blood:
8	chr7:11121943..11123973-chr7:11130475..11132999,2	K562	blood:
9	chr7:11130768..11133331-chr7:11134322..11136010,2	K562	blood:
10	chr7:11141298..11142996-chr7:11151745..11153861,2	MCF-7	breast:
11	chr7:11140028..11142682-chr7:11145035..11147597,3	K562	blood:
12	chr7:11126725..11129133-chr7:11132639..11135110,2	MCF-7	breast:
13	chr7:11146142..11148658-chr7:11151256..11153162,2	K562	blood:
14	chr7:11130768..11133331-chr7:11134322..11136010,2	K562	blood:
15	chr7:11128812..11130687-chr7:11131248..11133734,2	MCF-7	breast:
16	chr7:11121527..11123973-chr7:11131499..11134132,2	K562	blood:
17	chr7:11149421..11151035-chr7:11153801..11157843,3	K562	blood:
18	chr7:11140028..11142682-chr7:11145035..11147597,3	K562	blood:
19	chr7:11141298..11142996-chr7:11151745..11153861,2	MCF-7	breast:
20	chr7:11130768..11133783-chr7:11134322..11137393,4	K562	blood:
21	chr7:11162615..11164289-chr7:11165693..11168328,2	K562	blood:
22	chr7:11128812..11130687-chr7:11131248..11133734,2	MCF-7	breast:
23	chr7:11088216..11090960-chr7:11126210..11129188,2	K562	blood:
24	chr7:11124384..11127270-chr7:11131542..11136731,4	K562	blood:
25	chr7:11136221..11139675-chr7:11144358..11148872,4	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

Extended variants
information (count: 1477 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1477 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2995903	chr7:11124528-11124529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539162697	chr7:11124542-11124543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555957962	chr7:11124547-11124548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569637375	chr7:11124565-11124566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535093801	chr7:11124602-11124603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555679241	chr7:11124641-11124642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567839490	chr7:11124651-11124652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138839546	chr7:11124662-11124663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190592253	chr7:11124728-11124729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182146315	chr7:11124740-11124741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557996188	chr7:11124743-11124744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536882317	chr7:11124747-11124748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530643542	chr7:11124781-11124782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186820467	chr7:11124782-11124783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2995902	chr7:11124823-11124824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116116644	chr7:11124828-11124829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77118159	chr7:11124883-11124884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113087789	chr7:11124887-11124888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559650737	chr7:11124931-11124932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376735580	chr7:11124941-11124942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190708814	chr7:11124944-11124945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571530213	chr7:11124953-11124954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145572918	chr7:11124956-11124957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549858899	chr7:11124976-11124977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62440486	chr7:11125009-11125010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181172712	chr7:11125049-11125050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535459853	chr7:11125051-11125052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2906563	chr7:11125116-11125117	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2906562	chr7:11125119-11125120	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534938248	chr7:11125135-11125136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185619785	chr7:11125136-11125137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138085493	chr7:11125161-11125162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538605537	chr7:11125197-11125198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190383581	chr7:11125215-11125216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141746332	chr7:11125217-11125218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2995901	chr7:11125228-11125229	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544317535	chr7:11125255-11125256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543042748	chr7:11125287-11125288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116865317	chr7:11125297-11125298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572877275	chr7:11125301-11125302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79058980	chr7:11125315-11125316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386710279	chr7:11125327-11125328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12112733	chr7:11125347-11125348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182812370	chr7:11125378-11125379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10279863	chr7:11125414-11125415	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550871240	chr7:11125420-11125421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563429158	chr7:11125465-11125466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560881707	chr7:11125473-11125474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528992631	chr7:11125515-11125516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200053748	chr7:11125518-11125519	Weak transcription Strong transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
4	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
5	chr7:11076400-11193200	Weak transcription	Ovary	ovary
6	chr7:11077000-11130600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:11086600-11143800	Weak transcription	HUVEC	blood vessel
9	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
10	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
11	chr7:11097400-11129000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:11099800-11128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:11102200-11126200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:11102400-11167800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:11102600-11127000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:11102600-11134200	Weak transcription	Adipose Nuclei	Adipose
18	chr7:11102600-11144000	Weak transcription	Liver	Liver
19	chr7:11102600-11161000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:11102600-11173200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:11102600-11173400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:11105800-11125200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:11107600-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
27	chr7:11107800-11161000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:11109000-11143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:11112400-11134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:11112600-11125000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:11112600-11129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
33	chr7:11113600-11166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:11113800-11129400	Weak transcription	Fetal Lung	lung
35	chr7:11113800-11155600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:11114000-11132800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:11114400-11127200	Weak transcription	Dnd41	blood
38	chr7:11114400-11143800	Weak transcription	Fetal Thymus	thymus
39	chr7:11114600-11133000	Weak transcription	Primary T cells from cord blood	blood
40	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
41	chr7:11114800-11142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:11117800-11125600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:11118000-11199000	Weak transcription	HSMM	muscle
44	chr7:11122800-11128000	Weak transcription	K562	blood
45	chr7:11122800-11130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:11122800-11153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:11122800-11169800	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:11122800-11173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:11123000-11124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:11123000-11125400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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