Variant report

Variant	esv3373059
Chromosome Location	chr7:126897516-126901714
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	BHLHE40	chr7:126898150-126898361	K562	blood:	n/a	n/a
2	CTCF	chr7:126898300-126898450	K562	blood:	n/a	n/a
3	CTCF	chr7:126899513-126899840	GM19239	blood:	n/a	n/a
4	CTCF	chr7:126898292-126898512	K562	blood:	n/a	n/a
5	JUND	chr7:126898151-126898476	K562	blood:	n/a	chr7:126898295-126898303 chr7:126898295-126898302 chr7:126898296-126898307 chr7:126898295-126898303
6	MYC	chr7:126899453-126899703	MCF-7	breast:	n/a	n/a
7	MYC	chr7:126899418-126899425	MCF-7	breast:	n/a	n/a
8	MYC	chr7:126899399-126899410	MCF-7	breast:	n/a	n/a
9	MYC	chr7:126899707-126899743	MCF-7	breast:	n/a	n/a
10	MYC	chr7:126899427-126899446	MCF-7	breast:	n/a	n/a
11	MYC	chr7:126899476-126899688	MCF-7	breast:	n/a	n/a
12	MYC	chr7:126899706-126899751	MCF-7	breast:	n/a	n/a
13	MYC	chr7:126899413-126899417	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:126899421-126899717	Gliobla	brain:	n/a	n/a
15	RAD21	chr7:126898288-126898568	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr7:126898226-126898468	K562	blood:	n/a	n/a
17	RCOR1	chr7:126901146-126901186	K562	blood:	n/a	n/a
18	TAL1	chr7:126901055-126901124	K562	blood:	n/a	n/a
19	TBP	chr7:126898295-126898357	K562	blood:	n/a	n/a
20	ZNF143	chr7:126898328-126898455	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF263	chr7:126898133-126898529	HEK293-T-REx	kidney:	n/a	chr7:126898325-126898346

No.	Distal block	Cell Line	Cell type
1	chr7:126900301..126902703-chr7:127030705..127032341,2	MCF-7	breast:
2	chr7:126891985..126894759-chr7:126896631..126899168,2	K562	blood:
3	chr7:126884819..126886507-chr7:126900468..126902207,2	K562	blood:

Variant related genes	Relation type
GRM8	TF binding region
ENSG00000179603	chromatin interactions
ENSG00000048405	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557072975	chr7:126897532-126897533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17868493	chr7:126897553-126897554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541472092	chr7:126897563-126897564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543632189	chr7:126897573-126897574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565006908	chr7:126897578-126897579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532454251	chr7:126897620-126897621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532064068	chr7:126897629-126897630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540989906	chr7:126897644-126897645	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17868410	chr7:126897693-126897694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374336926	chr7:126897743-126897744	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17870072	chr7:126897763-126897764	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561639182	chr7:126897770-126897771	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145819115	chr7:126897811-126897812	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548293983	chr7:126897840-126897841	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529025976	chr7:126897848-126897849	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17862335	chr7:126897887-126897888	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530988457	chr7:126897924-126897925	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13243651	chr7:126897929-126897930	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140661849	chr7:126897945-126897946	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571021574	chr7:126897951-126897952	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534994529	chr7:126898007-126898008	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17865366	chr7:126898011-126898012	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376451452	chr7:126898072-126898073	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145374827	chr7:126898084-126898085	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79000069	chr7:126898104-126898105	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568104354	chr7:126898136-126898137	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563126325	chr7:126898151-126898152	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs17862336	chr7:126898189-126898190	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17868409	chr7:126898231-126898232	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557013703	chr7:126898374-126898375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575715790	chr7:126898375-126898376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570266432	chr7:126898380-126898381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543219258	chr7:126898388-126898389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558728714	chr7:126898419-126898420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577020136	chr7:126898439-126898440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs36013614	chr7:126898500-126898501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541332577	chr7:126898511-126898512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80029727	chr7:126898519-126898520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57172153	chr7:126898520-126898521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577316634	chr7:126898521-126898522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373763947	chr7:126898554-126898555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533516196	chr7:126898591-126898592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137927001	chr7:126898592-126898593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529696698	chr7:126898599-126898600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541872675	chr7:126898600-126898601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs17862337	chr7:126898623-126898624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs187947468	chr7:126898669-126898670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375539441	chr7:126898736-126898737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372870617	chr7:126898798-126898799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552453798	chr7:126898801-126898802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126894200-126897600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:126894200-126902800	Weak transcription	Right Atrium	heart
3	chr7:126894600-126899600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:126895800-126897800	Enhancers	Fetal Brain Male	brain
5	chr7:126897400-126898000	Enhancers	Fetal Brain Female	brain
6	chr7:126897600-126898000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:126897800-126898200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr7:126898200-126898800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:126899000-126899400	Weak transcription	Pancreas	Pancrea
10	chr7:126899400-126899800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr7:126899600-126903000	Weak transcription	Pancreas	Pancrea
12	chr7:126899600-126904600	Weak transcription	Gastric	stomach

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