Variant report

Variant	esv2761304
Chromosome Location	chr7:16568426-16576467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr7:16572571-16572886	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:16570120-16570445	A549	lung:	n/a	chr7:16570274-16570285
3	CEBPB	chr7:16570134-16570419	HepG2	liver:	n/a	chr7:16570274-16570285
4	CEBPB	chr7:16570195-16570423	K562	blood:	n/a	chr7:16570274-16570285
5	CEBPB	chr7:16569407-16569662	IMR90	lung:	n/a	chr7:16569503-16569514
6	CEBPB	chr7:16569373-16569665	HepG2	liver:	n/a	chr7:16569503-16569514
7	CEBPB	chr7:16569415-16569556	H1-hESC	embryonic stem cell:	n/a	chr7:16569503-16569514
8	CTCF	chr7:16574694-16574748	GM10248	blood:	n/a	n/a
9	FOS	chr7:16568081-16568579	HUVEC	blood vessel:	n/a	n/a
10	GATA3	chr7:16572079-16572085	SH-SY5Y	brain:	n/a	n/a
11	JUN	chr7:16575200-16575432	HepG2	liver:	n/a	chr7:16575322-16575335
12	JUND	chr7:16575185-16575473	HepG2	liver:	n/a	n/a
13	JUND	chr7:16573726-16574028	HepG2	liver:	n/a	chr7:16573872-16573883 chr7:16573877-16573884 chr7:16573874-16573886 chr7:16573876-16573885 chr7:16573874-16573881 chr7:16573874-16573885 chr7:16573876-16573884
14	MAFF	chr7:16568280-16568535	K562	blood:	n/a	n/a
15	MAFK	chr7:16569309-16569501	IMR90	lung:	n/a	n/a
16	MAFK	chr7:16569280-16569527	HepG2	liver:	n/a	n/a
17	MAZ	chr7:16568057-16568533	K562	blood:	n/a	n/a
18	POLR2A	chr7:16571867-16572244	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr7:16571916-16572300	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr7:16575345-16575353	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:16572903-16573094	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr7:16568970-16569030	Gliobla	brain:	n/a	n/a
23	STAT3	chr7:16573090-16573290	MCF10A-Er-Src	breast:	n/a	chr7:16573181-16573204
24	STAT3	chr7:16568328-16568433	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF7L2	chr7:16571947-16572236	PANC-1	pancreas:	n/a	chr7:16572018-16572032
26	TCF7L2	chr7:16571860-16572384	HEK293	kidney:	n/a	chr7:16572018-16572032

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16570042-16570092	AG10803	skin:	n/a
2	chr7:16570042-16570092	SK-N-SH	brain:	n/a
3	chr7:16570042-16570092	HRPEpiC	eye:	n/a
4	chr7:16570042-16570092	HRE	kidney:	n/a
5	chr7:16570042-16570092	NH-A	brain:	n/a
6	chr7:16570042-16570092	ovcar-3	ovarian:	n/a
7	chr7:16570042-16570092	PrEC	prostate:	n/a
8	chr7:16570042-16570092	GM12892	blood:	n/a
9	chr7:16570042-16570092	HUVEC	blood vessel:	n/a
10	chr7:16570042-16570092	HEK293	kidney:	embryo
11	chr7:16570042-16570092	Jurkat	blood:	n/a
12	chr7:16570042-16570092	SK-N-MC	brain:	n/a
13	chr7:16570042-16570092	LNCaP	prostate:	n/a
14	chr7:16570042-16570092	PANC-1	pancreas:	n/a
15	chr7:16570042-16570092	SKMC	muscle:	n/a
16	chr7:16570042-16570092	AG04450	lung:	fetal
17	chr7:16570042-16570092	GM06990	blood:	n/a
18	chr7:16570042-16570092	SAEC	small airway:	n/a
19	chr7:16570042-16570092	AG04449	skin:	fetal
20	chr7:16570042-16570092	BE2_C	brain:	n/a
21	chr7:16570042-16570092	HRCEpiC	kidney:	n/a
22	chr7:16570042-16570092	RPTEC	kidney:	n/a
23	chr7:16570042-16570092	HEEpiC	esophagus:	n/a
24	chr7:16570042-16570092	K562	blood:	n/a
25	chr7:16570042-16570092	NT2-D1	testis:	n/a
26	chr7:16570042-16570092	T-47D	breast:	n/a
27	chr7:16570042-16570092	MCF10A-Er-Src	breast:	n/a
28	chr7:16570042-16570092	HPAEpiC	pulmonary alveolar:	n/a
29	chr7:16570042-16570092	A549	lung:	n/a
30	chr7:16570042-16570092	SK-N-SH_RA	brain:	n/a
31	chr7:16570042-16570092	GM12891	blood:	n/a
32	chr7:16570042-16570092	HCPEpiC	choroid plexus:	n/a
33	chr7:16570042-16570092	PFSK-1	brain:	n/a
34	chr7:16570042-16570092	AoSMC	blood vessel:	n/a
35	chr7:16570042-16570092	HNPCEpiC	eye:	n/a
36	chr7:16570042-16570092	AG09319	gingival:	n/a
37	chr7:16570042-16570092	HCM	heart:	n/a
38	chr7:16570042-16570092	BJ	skin:	n/a
39	chr7:16570042-16570092	Caco-2	colon:	n/a
40	chr7:16570042-16570092	Hela-S3	cervix:	n/a
41	chr7:16570042-16570092	HAEpiC	amniotic membrane:	n/a
42	chr7:16570042-16570092	GM19239	blood:	n/a
43	chr7:16570042-16570092	HMEC	breast:	n/a
44	chr7:16570042-16570092	Hepatocyte	liver:	n/a
45	chr7:16570042-16570092	NHBE	bronchial:	n/a
46	chr7:16570042-16570092	HCF	heart:	n/a
47	chr7:16570042-16570092	GM12878	blood:	n/a
48	chr7:16570042-16570092	HIPEpiC	eye:	n/a
49	chr7:16570042-16570092	AG09309	skin:	n/a
50	chr7:16570042-16570092	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16569319..16572699-chr7:16575594..16578408,3	K562	blood:
2	chr7:16571964..16574427-chr7:16575853..16578398,3	K562	blood:
3	chr7:16572386..16575354-chr7:16579474..16582374,2	K562	blood:
4	chr7:16567461..16570360-chr7:16570875..16573674,2	K562	blood:
5	chr7:16576435..16578704-chr7:16580633..16582179,2	K562	blood:
6	chr7:16571964..16574427-chr7:16575853..16578398,3	K562	blood:
7	chr7:16567383..16570360-chr7:16572174..16574613,3	K562	blood:

No data

Variant related genes	Relation type
SOSTDC1	TF binding region
SOSTDC1	CpG island
ENSG00000171243	chromatin interactions

Extended variants
information (count: 335 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560032499	chr7:16568479-16568480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7811110	chr7:16568492-16568493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10235440	chr7:16568507-16568508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549731487	chr7:16568515-16568516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7794591	chr7:16568529-16568530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76964181	chr7:16568622-16568623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367721962	chr7:16568643-16568644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538595663	chr7:16568648-16568649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553628676	chr7:16568718-16568719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552644663	chr7:16568790-16568791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552638110	chr7:16568842-16568843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566132426	chr7:16568861-16568862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372007997	chr7:16568890-16568891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75697446	chr7:16568893-16568894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151328154	chr7:16568898-16568899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73295288	chr7:16568907-16568908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576216684	chr7:16568940-16568941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368571206	chr7:16568969-16568970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189646688	chr7:16568975-16568976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577306052	chr7:16568997-16568998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541770489	chr7:16569009-16569010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180849321	chr7:16569047-16569048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35345985	chr7:16569069-16569070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530392022	chr7:16569073-16569074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142883647	chr7:16569081-16569082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554971027	chr7:16569092-16569093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116089627	chr7:16569112-16569113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562527014	chr7:16569140-16569141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140597867	chr7:16569160-16569161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76699392	chr7:16569204-16569205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549608560	chr7:16569229-16569230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144628937	chr7:16569238-16569239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138515878	chr7:16569268-16569269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561474010	chr7:16569271-16569272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386710748	chr7:16569285-16569286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201284565	chr7:16569286-16569287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565659558	chr7:16569294-16569295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536108629	chr7:16569361-16569362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554757093	chr7:16569376-16569377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184295501	chr7:16569440-16569441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188594740	chr7:16569477-16569478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140305803	chr7:16569497-16569498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369662189	chr7:16569511-16569512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577342888	chr7:16569523-16569524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372126303	chr7:16569552-16569553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376714485	chr7:16569605-16569606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77684162	chr7:16569660-16569661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4721512	chr7:16569665-16569666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575088703	chr7:16569696-16569697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181649506	chr7:16569734-16569735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Melanoma	17363583	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16567800-16568600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:16568200-16568600	Enhancers	K562	blood
3	chr7:16568400-16571000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:16569800-16570000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:16569800-16571400	Enhancers	Fetal Brain Male	brain
6	chr7:16570000-16576600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:16570800-16571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:16571000-16572000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:16571400-16571800	Weak transcription	Fetal Brain Male	brain
10	chr7:16571400-16574000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:16571600-16572200	Enhancers	Osteobl	bone
12	chr7:16571800-16572400	Enhancers	Fetal Brain Male	brain

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