Variant report

Variant	esv1815126
Chromosome Location	chr7:126514925-126530828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr7:126522058-126522240	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:126522805-126523396	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:126526182-126526382	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr7:126516526-126516933	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:126524439-126524641	HepG2	liver:	n/a	chr7:126524616-126524628 chr7:126524579-126524592 chr7:126524579-126524590
6	CEBPB	chr7:126524451-126524692	Hela-S3	cervix:	n/a	chr7:126524616-126524628 chr7:126524579-126524592 chr7:126524579-126524590
7	CEBPB	chr7:126524473-126524687	K562	blood:	n/a	chr7:126524616-126524628 chr7:126524579-126524592 chr7:126524579-126524590
8	CTCF	chr7:126530420-126530570	BE2_C	brain:	n/a	n/a
9	CTCF	chr7:126522142-126522244	Medullo	brain:	n/a	n/a
10	CTCF	chr7:126522130-126522204	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr7:126530565-126530651	GM10248	blood:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
12	CTCF	chr7:126530522-126530707	Medullo	brain:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
13	CTCF	chr7:126522095-126522264	GM10248	blood:	n/a	n/a
14	CTCF	chr7:126521998-126522325	A549	lung:	n/a	n/a
15	CTCF	chr7:126522100-126522250	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr7:126518393-126518468	Lung_OC	lung:	n/a	n/a
17	CTCF	chr7:126522097-126522284	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:126522141-126522227	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr7:126530446-126530685	K562	blood:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
20	CTCF	chr7:126521932-126522351	K562	blood:	n/a	n/a
21	CTCF	chr7:126522157-126522198	GM19240	blood:	n/a	n/a
22	CTCF	chr7:126521582-126521635	GM13976	blood:	n/a	n/a
23	CTCF	chr7:126522069-126522257	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr7:126522080-126522230	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:126522020-126522170	BE2_C	brain:	n/a	n/a
26	CTCF	chr7:126530506-126530706	A549	lung:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
27	CTCF	chr7:126522020-126522170	GM12873	blood:	n/a	n/a
28	CTCF	chr7:126522040-126522190	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:126522116-126522236	Lung_OC	lung:	n/a	n/a
30	CTCF	chr7:126522100-126522250	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:126522141-126522245	A549	lung:	n/a	n/a
32	CTCF	chr7:126521998-126522363	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr7:126522168-126522206	GM20000	blood:	n/a	n/a
34	CTCF	chr7:126524882-126524909	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr7:126522100-126522250	GM12878	blood:	n/a	n/a
36	CTCF	chr7:126522073-126522347	GM12878	blood:	n/a	n/a
37	CTCF	chr7:126529084-126529108	GM20000	blood:	n/a	n/a
38	CTCF	chr7:126522052-126522238	A549	lung:	n/a	n/a
39	CTCF	chr7:126527556-126527651	GM20000	blood:	n/a	n/a
40	CTCF	chr7:126530570-126530606	HepG2	liver:	n/a	chr7:126530584-126530605
41	CTCF	chr7:126524853-126524914	GM10248	blood:	n/a	n/a
42	CTCF	chr7:126522120-126522270	GM12864	blood:	n/a	n/a
43	CTCF	chr7:126527889-126527945	GM10248	blood:	n/a	n/a
44	CTCF	chr7:126521937-126522385	K562	blood:	n/a	n/a
45	CTCF	chr7:126530455-126530502	GM10266	blood:	n/a	n/a
46	CTCF	chr7:126530540-126530690	HCT-116	colon:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
47	CTCF	chr7:126530544-126530652	GM13977	blood:	n/a	chr7:126530584-126530605 chr7:126530589-126530607
48	CTCF	chr7:126522155-126522196	GM19238	blood:	n/a	n/a
49	CTCF	chr7:126522102-126522229	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr7:126522093-126522300	LNCaP	prostate:	n/a	n/a

Variant related genes	Relation type
ENSG00000224981	TF binding region

Extended variants
information (count: 469 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112202155	chr7:126516275-126516276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539396699	chr7:126516329-126516330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189055300	chr7:126516331-126516332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181403768	chr7:126516362-126516363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540389363	chr7:126516363-126516364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184005563	chr7:126516396-126516397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573749007	chr7:126516397-126516398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544206867	chr7:126516477-126516478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570837087	chr7:126516493-126516494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11972390	chr7:126516523-126516524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2283082	chr7:126516537-126516538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188297933	chr7:126516585-126516586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180749996	chr7:126516586-126516587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187439680	chr7:126516656-126516657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17628324	chr7:126516683-126516684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550320142	chr7:126516778-126516779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28493683	chr7:126516784-126516785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28461837	chr7:126516785-126516786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549527668	chr7:126516823-126516824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568165894	chr7:126516876-126516877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192065498	chr7:126516877-126516878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550687441	chr7:126516913-126516914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34353722	chr7:126516991-126516992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200521805	chr7:126516992-126516993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397770362	chr7:126517003-126517004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568897899	chr7:126517049-126517050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539402550	chr7:126517058-126517059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535582895	chr7:126517060-126517061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557782938	chr7:126517065-126517066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566727764	chr7:126517074-126517075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533748569	chr7:126517077-126517078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555100238	chr7:126517100-126517101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561010272	chr7:126517106-126517107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529754557	chr7:126517176-126517177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573490059	chr7:126517183-126517184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544348294	chr7:126517199-126517200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556219814	chr7:126517201-126517202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182288629	chr7:126517214-126517215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142315404	chr7:126517235-126517236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186976851	chr7:126517263-126517264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560643656	chr7:126517342-126517343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146133082	chr7:126517354-126517355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138865388	chr7:126517357-126517358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561507674	chr7:126517397-126517398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13311037	chr7:126517402-126517403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531917458	chr7:126517403-126517404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13311118	chr7:126517404-126517405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190470834	chr7:126517419-126517420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73723521	chr7:126517420-126517421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566713651	chr7:126517438-126517439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126516200-126517000	Enhancers	Hela-S3	cervix
2	chr7:126517000-126521400	Weak transcription	Hela-S3	cervix
3	chr7:126521400-126521600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:126521400-126521800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:126521400-126521800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:126521400-126521800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:126521400-126521800	Enhancers	Lung	lung
8	chr7:126521400-126521800	Enhancers	Hela-S3	cervix
9	chr7:126521600-126521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:126521800-126523000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:126521800-126523000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:126521800-126523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:126521800-126523200	Weak transcription	Hela-S3	cervix
14	chr7:126521800-126523400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:126521800-126523400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:126522600-126523200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:126523000-126523200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:126523000-126523200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:126523000-126523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:126523000-126524000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:126523200-126524000	Enhancers	Hela-S3	cervix
22	chr7:126523200-126527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:126523400-126523800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:126523400-126524400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:126525000-126525400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:126525400-126527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:126527000-126527200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:126527000-126527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:126527000-126527800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:126527000-126529600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:126527600-126528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:126527600-126528200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:126527600-126528600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:126527800-126528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:126527800-126528600	Enhancers	Brain Anterior Caudate	brain
36	chr7:126528000-126528400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:126528200-126528800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:126528600-126529000	Enhancers	Brain Germinal Matrix	brain

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