Variant report

Variant	nsv971522
Chromosome Location	chr7:18068599-18088886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:18078066-18078408	K562	blood:	n/a	n/a
2	ATF3	chr7:18078039-18078514	HCT-116	colon:	n/a	n/a
3	CCNT2	chr7:18076473-18076705	K562	blood:	n/a	n/a
4	CEBPB	chr7:18084853-18085049	K562	blood:	n/a	n/a
5	CEBPB	chr7:18080663-18080936	IMR90	lung:	n/a	n/a
6	CEBPB	chr7:18073630-18073826	A549	lung:	n/a	chr7:18073754-18073765
7	CEBPB	chr7:18084831-18085115	K562	blood:	n/a	n/a
8	CEBPB	chr7:18084805-18085121	K562	blood:	n/a	n/a
9	CEBPB	chr7:18073592-18073902	IMR90	lung:	n/a	chr7:18073754-18073765
10	CEBPB	chr7:18086165-18086243	A549	lung:	n/a	n/a
11	CEBPB	chr7:18073619-18073886	K562	blood:	n/a	chr7:18073754-18073765
12	CEBPB	chr7:18073620-18073827	HepG2	liver:	n/a	chr7:18073754-18073765
13	CTCF	chr7:18081655-18081731	GM10248	blood:	n/a	n/a
14	CTCF	chr7:18083246-18083278	LNCaP	prostate:	n/a	n/a
15	CTCF	chr7:18078549-18078697	K562	blood:	n/a	n/a
16	EGR1	chr7:18076524-18076685	K562	blood:	n/a	n/a
17	EP300	chr7:18079565-18080324	SK-N-SH	brain:	n/a	n/a
18	EP300	chr7:18084798-18085093	K562	blood:	n/a	n/a
19	EP300	chr7:18076495-18076593	K562	blood:	n/a	n/a
20	EP300	chr7:18078002-18078306	GM12878	blood:	n/a	n/a
21	EP300	chr7:18079754-18080354	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr7:18082125-18082419	T-47D	breast:	n/a	chr7:18082258-18082273
23	ESR1	chr7:18082062-18082373	ECC-1	luminal epithelium:	n/a	chr7:18082258-18082273
24	FOSL2	chr7:18079780-18080318	SK-N-SH	brain:	n/a	n/a
25	FOXM1	chr7:18079790-18080382	ECC-1	luminal epithelium:	n/a	n/a
26	GATA2	chr7:18076406-18076715	K562	blood:	n/a	n/a
27	GATA3	chr7:18079472-18080435	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr7:18079539-18080397	SK-N-SH	brain:	n/a	n/a
29	IRF1	chr7:18077245-18077508	K562	blood:	n/a	n/a
30	IRF1	chr7:18076521-18076623	K562	blood:	n/a	n/a
31	IRF1	chr7:18078702-18079032	K562	blood:	n/a	chr7:18078814-18078827 chr7:18078814-18078826 chr7:18078814-18078831 chr7:18078812-18078829 chr7:18078958-18078978 chr7:18078814-18078826 chr7:18078815-18078826
32	IRF1	chr7:18076426-18076677	K562	blood:	n/a	n/a
33	IRF1	chr7:18077387-18077504	K562	blood:	n/a	n/a
34	IRF1	chr7:18078680-18079008	K562	blood:	n/a	chr7:18078814-18078827 chr7:18078814-18078826 chr7:18078814-18078831 chr7:18078812-18078829 chr7:18078958-18078978 chr7:18078814-18078826 chr7:18078815-18078826
35	JUN	chr7:18070643-18070929	K562	blood:	n/a	chr7:18070725-18070736
36	JUND	chr7:18079779-18080400	SK-N-SH	brain:	n/a	n/a
37	JUND	chr7:18079697-18080397	SK-N-SH	brain:	n/a	n/a
38	MAZ	chr7:18070530-18070704	HepG2	liver:	n/a	n/a
39	MEF2A	chr7:18079703-18080479	SK-N-SH	brain:	n/a	n/a
40	MEF2A	chr7:18079591-18080528	SK-N-SH	brain:	n/a	chr7:18079687-18079704
41	NFYA	chr7:18077275-18077520	K562	blood:	n/a	n/a
42	NFYB	chr7:18077235-18077561	K562	blood:	n/a	n/a
43	NR2F2	chr7:18076363-18076754	K562	blood:	n/a	n/a
44	PBX3	chr7:18079728-18080352	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr7:18077300-18077509	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:18071706-18071778	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:18070429-18070751	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr7:18074248-18074329	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr7:18088455-18088587	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:18070355-18070820	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:18079924-18079974	SK-N-SH_RA	brain:	n/a
2	chr7:18068624-18068674	GM12892	blood:	n/a
3	chr7:18068624-18068674	HNPCEpiC	eye:	n/a
4	chr7:18068624-18068674	IMR90	lung:	fetal
5	chr7:18068624-18068674	SK-N-MC	brain:	n/a
6	chr7:18079924-18079974	HCF	heart:	n/a
7	chr7:18068624-18068674	AG09309	skin:	n/a
8	chr7:18068624-18068674	MCF-7	breast:	n/a
9	chr7:18068624-18068674	NHDF-neo	bronchial:	n/a
10	chr7:18068624-18068674	K562	blood:	n/a
11	chr7:18079924-18079974	GM12892	blood:	n/a
12	chr7:18079924-18079974	K562	blood:	n/a
13	chr7:18068624-18068674	HL-60	blood:	n/a
14	chr7:18068624-18068674	HepG2	liver:	n/a
15	chr7:18068624-18068674	AoSMC	blood vessel:	n/a
16	chr7:18068624-18068674	NH-A	brain:	n/a
17	chr7:18068624-18068674	GM12878	blood:	n/a
18	chr7:18068624-18068674	HRPEpiC	eye:	n/a
19	chr7:18068624-18068674	ECC-1	luminal epithelium:	n/a
20	chr7:18079924-18079974	PANC-1	pancreas:	n/a
21	chr7:18079924-18079974	Caco-2	colon:	n/a
22	chr7:18079924-18079974	H1-hESC	embryonic stem cell:	embryo
23	chr7:18079924-18079974	HMEC	breast:	n/a
24	chr7:18068624-18068674	AG09319	gingival:	n/a
25	chr7:18068624-18068674	GM12891	blood:	n/a
26	chr7:18079924-18079974	HRE	kidney:	n/a
27	chr7:18079924-18079974	NT2-D1	testis:	n/a
28	chr7:18068624-18068674	SK-N-SH	brain:	n/a
29	chr7:18079924-18079974	AG09309	skin:	n/a
30	chr7:18079924-18079974	MCF10A-Er-Src	breast:	n/a
31	chr7:18068624-18068674	U87	brain:	n/a
32	chr7:18079924-18079974	PrEC	prostate:	n/a
33	chr7:18079924-18079974	SKMC	muscle:	n/a
34	chr7:18068624-18068674	AG04450	lung:	fetal
35	chr7:18079924-18079974	HUVEC	blood vessel:	n/a
36	chr7:18079924-18079974	GM19239	blood:	n/a
37	chr7:18068624-18068674	HEEpiC	esophagus:	n/a
38	chr7:18079924-18079974	SK-N-MC	brain:	n/a
39	chr7:18079924-18079974	MCF-7	breast:	n/a
40	chr7:18068624-18068674	CMK	blood:	n/a
41	chr7:18068624-18068674	AG10803	skin:	n/a
42	chr7:18068624-18068674	HCF	heart:	n/a
43	chr7:18079924-18079974	GM06990	blood:	n/a
44	chr7:18068624-18068674	SKMC	muscle:	n/a
45	chr7:18079924-18079974	BE2_C	brain:	n/a
46	chr7:18079924-18079974	AG09319	gingival:	n/a
47	chr7:18068624-18068674	Jurkat	blood:	n/a
48	chr7:18079924-18079974	A549	lung:	n/a
49	chr7:18079924-18079974	Jurkat	blood:	n/a
50	chr7:18068624-18068674	PFSK-1	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18068208..18069860-chr7:18070125..18073017,2	K562	blood:
2	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:
3	chr7:18083711..18086360-chr7:18089871..18092747,2	MCF-7	breast:
4	chr7:18068208..18069860-chr7:18070125..18073017,2	K562	blood:
5	chr7:18083618..18086351-chr7:18088635..18091366,2	K562	blood:
6	chr7:18086835..18088605-chr7:18090406..18092394,2	K562	blood:
7	chr7:18076800..18079636-chr7:18082013..18084271,2	MCF-7	breast:
8	chr7:17979278..17981883-chr7:18073820..18076409,2	MCF-7	breast:
9	chr7:18076800..18079636-chr7:18082013..18084271,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRPS1L1	TF binding region
PRPS1L1	CpG island
ENSG00000071189	chromatin interactions

Extended variants
information (count: 720 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139944561	chr7:18068619-18068620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560462095	chr7:18068681-18068682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540895364	chr7:18068690-18068691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373230926	chr7:18068705-18068706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61465218	chr7:18068752-18068753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6461371	chr7:18068807-18068808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542805405	chr7:18068808-18068809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12666668	chr7:18068820-18068821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542424484	chr7:18068848-18068849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185101095	chr7:18068850-18068851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549581860	chr7:18068876-18068877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12668788	chr7:18068931-18068932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531963283	chr7:18068973-18068974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376196375	chr7:18068974-18068975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75835896	chr7:18069040-18069041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527755542	chr7:18069058-18069059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536486211	chr7:18069061-18069062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555156589	chr7:18069096-18069097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570106792	chr7:18069129-18069130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370537209	chr7:18069186-18069187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200895434	chr7:18069200-18069201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558749981	chr7:18069239-18069240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149852438	chr7:18069266-18069267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144770923	chr7:18069275-18069276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554156327	chr7:18069308-18069309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140097097	chr7:18069331-18069332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12673527	chr7:18069349-18069350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561158288	chr7:18069369-18069370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531369090	chr7:18069484-18069485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564602381	chr7:18069506-18069507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564614541	chr7:18069605-18069606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6976627	chr7:18069638-18069639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546976589	chr7:18069641-18069642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188866904	chr7:18069717-18069718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569095072	chr7:18069785-18069786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193219990	chr7:18069786-18069787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531526237	chr7:18069800-18069801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527372305	chr7:18069830-18069831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6976951	chr7:18069840-18069841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567892616	chr7:18069880-18069881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548573510	chr7:18069918-18069919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376397287	chr7:18069945-18069946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115674350	chr7:18069947-18069948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184488917	chr7:18069972-18069973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552668944	chr7:18070112-18070113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56018736	chr7:18070120-18070121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116186514	chr7:18070136-18070137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553442209	chr7:18070190-18070191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536835609	chr7:18070251-18070252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546904392	chr7:18070274-18070275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Autism	20531469	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18061400-18077400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:18078600-18079000	Active TSS	K562	blood
3	chr7:18078600-18079800	Enhancers	Fetal Heart	heart
4	chr7:18079600-18080200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:18079600-18080400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:18079600-18080400	Enhancers	Osteobl	bone
7	chr7:18079600-18080600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:18079600-18080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:18079800-18080200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:18079800-18080200	Active TSS	Fetal Heart	heart
11	chr7:18079800-18080400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:18079800-18080400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:18079800-18080400	Enhancers	HSMMtube	muscle
14	chr7:18079800-18080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:18079800-18081000	Enhancers	NH-A	brain
16	chr7:18079800-18081200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:18080000-18081200	Enhancers	Fetal Lung	lung
18	chr7:18080200-18080400	Flanking Active TSS	Fetal Heart	heart
19	chr7:18080200-18092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:18080400-18081400	Enhancers	Fetal Heart	heart
21	chr7:18080600-18081200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:18081200-18081400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:18081400-18085800	Weak transcription	Fetal Heart	heart
24	chr7:18085000-18086200	Enhancers	Fetal Kidney	kidney
25	chr7:18085800-18087600	Enhancers	Fetal Heart	heart
26	chr7:18086200-18086400	Weak transcription	Fetal Kidney	kidney
27	chr7:18086200-18086600	Enhancers	K562	blood
28	chr7:18086400-18087600	Enhancers	Fetal Kidney	kidney
29	chr7:18087000-18087600	Enhancers	Liver	Liver

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