Variant report

Variant	esv1793187
Chromosome Location	chr7:118794683-118834412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:267)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:118816087-118816420	GM12878	blood:	n/a	n/a
2	CBX3	chr7:118807512-118807928	HCT-116	colon:	n/a	n/a
3	CHD2	chr7:118816031-118816309	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr7:118815972-118816285	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:118816172-118816283	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:118826220-118826370	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr7:118816180-118816330	GM12865	blood:	n/a	n/a
8	CTCF	chr7:118816180-118816330	BE2_C	brain:	n/a	n/a
9	CTCF	chr7:118816040-118816190	AG09309	skin:	n/a	n/a
10	CTCF	chr7:118816160-118816310	NHEK	skin:	n/a	n/a
11	CTCF	chr7:118816159-118816400	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:118816092-118816404	A549	lung:	n/a	n/a
13	CTCF	chr7:118816180-118816330	Caco-2	colon:	n/a	n/a
14	CTCF	chr7:118816180-118816330	HCM	heart:	n/a	n/a
15	CTCF	chr7:118816200-118816350	HepG2	liver:	n/a	n/a
16	CTCF	chr7:118816160-118816310	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr7:118826260-118826410	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr7:118816075-118816440	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr7:118816131-118816395	GM10266	blood:	n/a	n/a
20	CTCF	chr7:118816240-118816390	HCM	heart:	n/a	n/a
21	CTCF	chr7:118816200-118816350	GM06990	blood:	n/a	n/a
22	CTCF	chr7:118816140-118816290	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr7:118816200-118816350	RPTEC	kidney:	n/a	n/a
24	CTCF	chr7:118816160-118816310	BJ	skin:	n/a	n/a
25	CTCF	chr7:118816140-118816290	AG04449	skin:	n/a	n/a
26	CTCF	chr7:118816200-118816350	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr7:118816160-118816310	GM06990	blood:	n/a	n/a
28	CTCF	chr7:118816156-118816402	GM10248	blood:	n/a	n/a
29	CTCF	chr7:118816200-118816350	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr7:118816180-118816377	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr7:118816160-118816310	HEK293	kidney:	n/a	n/a
32	CTCF	chr7:118816200-118816350	A549	lung:	n/a	n/a
33	CTCF	chr7:118815053-118815084	GM10266	blood:	n/a	n/a
34	CTCF	chr7:118816174-118816405	A549	lung:	n/a	n/a
35	CTCF	chr7:118816160-118816310	GM12867	blood:	n/a	n/a
36	CTCF	chr7:118816200-118816350	GM12867	blood:	n/a	n/a
37	CTCF	chr7:118805496-118805529	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:118828023-118828059	GM20000	blood:	n/a	n/a
39	CTCF	chr7:118826200-118826350	SAEC	small airway:	n/a	n/a
40	CTCF	chr7:118816160-118816396	GM13976	blood:	n/a	n/a
41	CTCF	chr7:118816200-118816350	HRE	kidney:	n/a	n/a
42	CTCF	chr7:118816200-118816350	BE2_C	brain:	n/a	n/a
43	CTCF	chr7:118816200-118816350	HMEC	breast:	n/a	n/a
44	CTCF	chr7:118816140-118816290	AG10803	skin:	n/a	n/a
45	CTCF	chr7:118816074-118816306	GM19238	blood:	n/a	n/a
46	CTCF	chr7:118816180-118816330	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr7:118816200-118816350	K562	blood:	n/a	n/a
48	CTCF	chr7:118816140-118816290	GM12864	blood:	n/a	n/a
49	CTCF	chr7:118816118-118816342	ProgFib	skin:	n/a	n/a
50	CTCF	chr7:118816122-118816388	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:118823416..118825410-chr7:118825629..118827229,2	K562	blood:
2	chr7:118823416..118825410-chr7:118825629..118827229,2	K562	blood:
3	chr7:117390803..117391431-chr7:118815895..118816706,2	MCF-7	breast:
4	chr7:118510382..118510908-chr7:118815972..118816682,2	MCF-7	breast:
5	chr7:118800323..118802977-chr7:118807126..118809160,2	K562	blood:
6	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
7	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:
8	chr7:118288299..118289194-chr7:118816171..118816706,2	MCF-7	breast:
9	chr7:118558392..118559287-chr7:118815693..118816489,5	MCF-7	breast:
10	chr7:118558904..118559746-chr7:118816086..118816731,2	MCF-7	breast:
11	chr7:118800323..118802977-chr7:118807126..118809160,2	K562	blood:
12	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
13	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
14	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-7	chr7:118818231-118819203	NONHSAT122980

No data

Variant related genes	Relation type
ENSG00000270516	TF binding region

Extended variants
information (count: 740 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:740 , 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	rs557066606	chr7:118808203-118808204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574041636	chr7:118808211-118808212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143556961	chr7:118808214-118808215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559645523	chr7:118808250-118808251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370553962	chr7:118808252-118808253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573491258	chr7:118808318-118808319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545344428	chr7:118808324-118808325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564094757	chr7:118808334-118808335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149799197	chr7:118808453-118808454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146312740	chr7:118808528-118808529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73479881	chr7:118808538-118808539	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563418161	chr7:118808563-118808564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11772325	chr7:118808568-118808569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2896276	chr7:118808575-118808576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565702467	chr7:118808589-118808590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139599042	chr7:118808610-118808611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368346104	chr7:118808638-118808639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs118190401	chr7:118808650-118808651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571192198	chr7:118808657-118808658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537089340	chr7:118808665-118808666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369450153	chr7:118808675-118808676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537183671	chr7:118808676-118808677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142895826	chr7:118808680-118808681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550681244	chr7:118808703-118808704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574084719	chr7:118808704-118808705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536308981	chr7:118808761-118808762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75435517	chr7:118808762-118808763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573331109	chr7:118808810-118808811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs36092928	chr7:118808819-118808820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565614274	chr7:118808874-118808875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186490160	chr7:118808892-118808893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs151087623	chr7:118808910-118808911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141023057	chr7:118808915-118808916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528997453	chr7:118808926-118808927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566096623	chr7:118808930-118808931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548775410	chr7:118808944-118808945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs112751550	chr7:118808954-118808955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs6956796	chr7:118808987-118808988	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142691701	chr7:118811824-118811825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577205805	chr7:118811832-118811833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537710440	chr7:118811859-118811860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181381183	chr7:118811889-118811890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146300961	chr7:118811901-118811902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576021932	chr7:118811947-118811948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542281993	chr7:118812009-118812010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555145557	chr7:118812010-118812011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527922203	chr7:118812020-118812021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10259382	chr7:118812058-118812059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs117711914	chr7:118812073-118812074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77819842	chr7:118812096-118812097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118808200-118808800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:118808400-118809000	ZNF genes & repeats	Aorta	Aorta
3	chr7:118811800-118815800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:118814000-118814600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:118814000-118816600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:118814200-118814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:118814400-118814600	Enhancers	Brain Angular Gyrus	brain
8	chr7:118814400-118818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:118814600-118816000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:118814600-118818000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:118815800-118816000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:118815800-118816000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:118815800-118816200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:118815800-118816200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:118815800-118816200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:118815800-118816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:118815800-118816200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:118815800-118816200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:118815800-118816400	Enhancers	Dnd41	blood
20	chr7:118816000-118816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:118816000-118816200	Enhancers	Adipose Nuclei	Adipose
22	chr7:118816000-118816200	Enhancers	Brain Angular Gyrus	brain
23	chr7:118816000-118816200	Enhancers	Brain Anterior Caudate	brain
24	chr7:118816000-118816200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:118816000-118816200	Enhancers	Brain Substantia Nigra	brain
26	chr7:118816000-118816200	Enhancers	Esophagus	oesophagus
27	chr7:118816000-118816200	Enhancers	Right Atrium	heart
28	chr7:118816000-118816200	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:118816000-118817800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:118816000-118818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:118816200-118818000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:118816200-118818200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:118816200-118818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:118816200-118818200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:118816200-118818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:118816200-118829600	Weak transcription	Right Atrium	heart
37	chr7:118817800-118818000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:118818000-118818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:118818000-118819400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:118818000-118819400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:118818000-118819600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:118818200-118818400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:118818200-118819200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:118818200-118819400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:118818200-118819400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:118818200-118819400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:118818400-118818800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:118818400-118819000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:118818800-118819400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:118818800-118819600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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