Variant report

Variant	nsv8181
Chromosome Location	chr7:97652917-97657935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:97653393-97653711	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:97655289-97655592	K562	blood:	n/a	chr7:97655435-97655446
3	CEBPB	chr7:97655317-97655609	HepG2	liver:	n/a	chr7:97655435-97655446
4	CEBPB	chr7:97655354-97655555	A549	lung:	n/a	chr7:97655435-97655446
5	CEBPB	chr7:97655309-97655456	H1-hESC	embryonic stem cell:	n/a	chr7:97655435-97655446
6	CHD2	chr7:97653395-97653739	GM12878	blood:	n/a	n/a
7	CTCF	chr7:97656760-97656910	HCT-116	colon:	n/a	n/a
8	CTCF	chr7:97656760-97656910	A549	lung:	n/a	n/a
9	CTCF	chr7:97656800-97656950	HCT-116	colon:	n/a	n/a
10	CTCF	chr7:97656756-97656883	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr7:97656732-97656948	K562	blood:	n/a	n/a
12	CTCF	chr7:97656681-97656937	HepG2	liver:	n/a	n/a
13	CTCF	chr7:97656569-97657063	K562	blood:	n/a	n/a
14	CTCF	chr7:97656731-97656925	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:97656740-97656890	A549	lung:	n/a	n/a
16	CTCF	chr7:97656780-97656930	HepG2	liver:	n/a	n/a
17	CTCF	chr7:97656657-97656894	K562	blood:	n/a	n/a
18	CTCF	chr7:97656802-97656982	K562	blood:	n/a	n/a
19	CTCF	chr7:97656757-97656897	K562	blood:	n/a	n/a
20	CTCF	chr7:97656680-97656910	HepG2	liver:	n/a	n/a
21	CTCF	chr7:97656800-97656950	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:97656735-97656889	HepG2	liver:	n/a	n/a
23	CTCF	chr7:97656600-97656750	A549	lung:	n/a	n/a
24	CTCF	chr7:97656755-97656909	A549	lung:	n/a	n/a
25	CTCF	chr7:97656733-97656940	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:97656780-97656930	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr7:97656760-97656910	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr7:97656770-97656883	ProgFib	skin:	n/a	n/a
29	CTCF	chr7:97656765-97656891	Gliobla	brain:	n/a	n/a
30	CTCF	chr7:97657000-97657150	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:97656738-97656928	MCF-7	breast:	n/a	n/a
32	CTCF	chr7:97656732-97656940	HepG2	liver:	n/a	n/a
33	CTCF	chr7:97656730-97656935	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:97656780-97656930	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:97656760-97656910	K562	blood:	n/a	n/a
36	CTCF	chr7:97656738-97656926	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:97656780-97656930	K562	blood:	n/a	n/a
38	EGR1	chr7:97653479-97653618	K562	blood:	n/a	chr7:97653544-97653559
39	EP300	chr7:97653403-97653727	GM12878	blood:	n/a	chr7:97653613-97653627
40	EP300	chr7:97653369-97653776	GM12878	blood:	n/a	chr7:97653613-97653627
41	EP300	chr7:97653385-97653766	GM12878	blood:	n/a	chr7:97653613-97653627
42	FOXM1	chr7:97653428-97653723	GM12878	blood:	n/a	n/a
43	MAFF	chr7:97656777-97656782	K562	blood:	n/a	n/a
44	MAX	chr7:97653427-97653627	GM12878	blood:	n/a	n/a
45	MAZ	chr7:97653440-97653699	GM12878	blood:	n/a	n/a
46	MXI1	chr7:97653478-97653590	GM12878	blood:	n/a	n/a
47	RELA	chr7:97653360-97653855	GM12891	blood:	n/a	n/a
48	SMC3	chr7:97656731-97656931	HepG2	liver:	n/a	n/a
49	TCF12	chr7:97653386-97653721	GM12878	blood:	n/a	n/a
50	TCF12	chr7:97653420-97653740	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:154695219..154695874-chr7:97656418..97657125,2	MCF-7	breast:
2	chr7:97656294..97658783-chr7:97701191..97703989,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMTK2-2	chr7:97653041-97653288	NONHSAT122169

No data

Variant related genes	Relation type
RN7SL13P	TF binding region

Extended variants
information (count: 274 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74992082	chr7:97652928-97652929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541993525	chr7:97652939-97652940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538415087	chr7:97652960-97652961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115859430	chr7:97652969-97652970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73140995	chr7:97653031-97653032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145904173	chr7:97653032-97653033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551984162	chr7:97653101-97653102	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570711862	chr7:97653174-97653175	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs368060838	chr7:97653182-97653183	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs534653995	chr7:97653228-97653229	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs372048142	chr7:97653234-97653235	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs574744845	chr7:97653259-97653260	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs371500385	chr7:97653292-97653293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72033828	chr7:97653319-97653320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58826572	chr7:97653323-97653324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71532088	chr7:97653326-97653327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144050684	chr7:97653330-97653331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563419883	chr7:97653334-97653335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398047876	chr7:97653336-97653337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67562842	chr7:97653337-97653338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111347423	chr7:97653385-97653386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138312709	chr7:97653396-97653397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17169244	chr7:97653404-97653405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111549628	chr7:97653419-97653420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564703253	chr7:97653444-97653445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112799795	chr7:97653494-97653495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201473087	chr7:97653497-97653498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540614534	chr7:97653501-97653502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559252221	chr7:97653508-97653509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73140997	chr7:97653512-97653513	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547856648	chr7:97653522-97653523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73709068	chr7:97653533-97653534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569706841	chr7:97653534-97653535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530555817	chr7:97653548-97653549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187090269	chr7:97653552-97653553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570602599	chr7:97653575-97653576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534046926	chr7:97653647-97653648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144901154	chr7:97653665-97653666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535528277	chr7:97653723-97653724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73709069	chr7:97653750-97653751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113857296	chr7:97653767-97653768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546587583	chr7:97653775-97653776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568408341	chr7:97653789-97653790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs740209	chr7:97653811-97653812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79163611	chr7:97653812-97653813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191942035	chr7:97653846-97653847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150209260	chr7:97653968-97653969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375064852	chr7:97653969-97653970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113711300	chr7:97653997-97653998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201279138	chr7:97654000-97654001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97649200-97668000	Weak transcription	Right Atrium	heart
2	chr7:97651400-97653000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:97653000-97653600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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