Variant report

Variant	esv1813734
Chromosome Location	chr7:112628373-112636408
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	CEBPB	chr7:112632132-112632144	HepG2	liver:	n/a	n/a
2	CTCF	chr7:112635240-112635390	GM12867	blood:	n/a	n/a
3	EP300	chr7:112635398-112636179	SK-N-SH	brain:	n/a	n/a
4	FOS	chr7:112629611-112629994	MCF10A-Er-Src	breast:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
5	FOS	chr7:112629618-112629917	MCF10A-Er-Src	breast:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
6	FOS	chr7:112628366-112628658	MCF10A-Er-Src	breast:	n/a	chr7:112628549-112628556 chr7:112628547-112628556
7	FOS	chr7:112630813-112630977	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:112634761-112635119	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr7:112628383-112628583	MCF10A-Er-Src	breast:	n/a	chr7:112628549-112628556 chr7:112628547-112628556
10	FOS	chr7:112630878-112630947	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:112635642-112635893	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:112629619-112629956	MCF10A-Er-Src	breast:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
13	FOS	chr7:112634656-112635937	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:112634858-112634952	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:112630870-112630975	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:112629686-112629957	MCF10A-Er-Src	breast:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
17	FOS	chr7:112635611-112635941	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr7:112629545-112630014	SK-N-SH	brain:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
19	FOSL2	chr7:112635513-112636004	SK-N-SH	brain:	n/a	n/a
20	FOSL2	chr7:112635429-112636053	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr7:112635340-112636014	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr7:112634636-112635208	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr7:112635356-112636086	SK-N-SH	brain:	n/a	n/a
24	GTF2F1	chr7:112635650-112635677	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUN	chr7:112629799-112629862	K562	blood:	n/a	chr7:112629804-112629812 chr7:112629805-112629812 chr7:112629803-112629812
26	JUND	chr7:112629671-112629985	HepG2	liver:	n/a	chr7:112629804-112629812 chr7:112629802-112629813 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
27	JUND	chr7:112629560-112630100	SK-N-SH	brain:	n/a	chr7:112629804-112629812 chr7:112629802-112629813 chr7:112629805-112629812 chr7:112629803-112629812 chr7:112629869-112629881
28	JUND	chr7:112635340-112636050	SK-N-SH	brain:	n/a	n/a
29	JUND	chr7:112628527-112628669	HepG2	liver:	n/a	chr7:112628546-112628557 chr7:112628549-112628556 chr7:112628547-112628556
30	JUND	chr7:112635438-112636078	SK-N-SH	brain:	n/a	n/a
31	MAX	chr7:112635552-112635997	SK-N-SH	brain:	n/a	n/a
32	MAX	chr7:112635539-112636040	SK-N-SH	brain:	n/a	n/a
33	MEF2A	chr7:112635319-112636181	SK-N-SH	brain:	n/a	n/a
34	MEF2A	chr7:112635369-112636129	SK-N-SH	brain:	n/a	n/a
35	MYC	chr7:112635677-112635877	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr7:112635306-112636098	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr7:112635493-112636126	SK-N-SH	brain:	n/a	n/a
38	PBX3	chr7:112635400-112636071	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr7:112635855-112635887	ProgFib	skin:	n/a	n/a
40	POLR2A	chr7:112635522-112635953	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:112635812-112635813	ProgFib	skin:	n/a	n/a
42	POLR2A	chr7:112635817-112635847	ProgFib	skin:	n/a	n/a
43	POLR2A	chr7:112635679-112635881	Gliobla	brain:	n/a	n/a
44	POLR2A	chr7:112635264-112636152	U87	brain:	n/a	n/a
45	POLR2A	chr7:112635263-112636046	U87	brain:	n/a	n/a
46	POLR2A	chr7:112635644-112635703	ProgFib	skin:	n/a	n/a
47	POLR2A	chr7:112635105-112636152	U87	brain:	n/a	n/a
48	SPI1	chr7:112630328-112630752	HL-60	blood:	n/a	chr7:112630529-112630542 chr7:112630533-112630540
49	SPI1	chr7:112628116-112628489	HL-60	blood:	n/a	chr7:112628328-112628335
50	SPI1	chr7:112628100-112628538	HL-60	blood:	n/a	chr7:112628328-112628335

No.	Distal block	Cell Line	Cell type
1	chr7:112628593..112630399-chr7:112648519..112650654,2	K562	blood:
2	chr7:112623073..112625908-chr7:112627681..112629451,2	K562	blood:
3	chr7:112629828..112632349-chr7:112641858..112644644,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf60-1	chr7:112635623-112635682	ENSG00000234520
2	lnc-C7orf60-1	chr7:112635623-112635689	ENSG00000234520
3	lnc-C7orf60-1	chr7:112635623-112635712	NONHSAT122810
4	lnc-C7orf60-1	chr7:112635623-112635698	NONHSAT122803
5	lnc-C7orf60-1	chr7:112635623-112635698	NONHSAT122806
6	lnc-C7orf60-1	chr7:112635623-112635698	NR_110162
7	lnc-C7orf60-1	chr7:112635623-112635698	NONHSAT122805

Variant related genes	Relation type
ENSG00000234520	TF binding region

Extended variants
information (count: 258 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs10229603	chr7:112628373-112628374	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs188858162	chr7:112628378-112628379	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1449955	chr7:112628422-112628423	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564886566	chr7:112628440-112628441	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73416712	chr7:112628472-112628473	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117804887	chr7:112628479-112628480	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541958147	chr7:112628503-112628504	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565914207	chr7:112628529-112628530	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563118542	chr7:112628613-112628614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561636471	chr7:112628625-112628626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193231592	chr7:112628673-112628674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567267244	chr7:112628722-112628723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74420011	chr7:112628723-112628724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528141725	chr7:112628774-112628775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367620248	chr7:112628816-112628817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115935673	chr7:112628855-112628856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571223244	chr7:112628924-112628925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71561781	chr7:112628936-112628937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538949826	chr7:112628944-112628945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34828965	chr7:112629029-112629030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556951433	chr7:112629049-112629050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148866066	chr7:112629051-112629052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183919218	chr7:112629101-112629102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60265993	chr7:112629128-112629129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116436965	chr7:112629147-112629148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540287785	chr7:112629157-112629158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76122848	chr7:112629164-112629165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538780567	chr7:112629189-112629190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10274073	chr7:112629218-112629219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563024398	chr7:112629226-112629227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530357594	chr7:112629232-112629233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552543521	chr7:112629268-112629269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7787040	chr7:112629275-112629276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560623473	chr7:112629295-112629296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370649343	chr7:112629299-112629300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546684930	chr7:112629376-112629377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201221207	chr7:112629396-112629397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80340620	chr7:112629419-112629420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74397774	chr7:112629421-112629422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571288576	chr7:112629458-112629459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531994208	chr7:112629486-112629487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550888926	chr7:112629489-112629490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537907541	chr7:112629490-112629491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73196936	chr7:112629498-112629499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544860959	chr7:112629595-112629596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151086838	chr7:112629596-112629597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536497896	chr7:112629597-112629598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555299837	chr7:112629681-112629682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180683783	chr7:112629718-112629719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375734717	chr7:112629728-112629729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112594200-112630400	Weak transcription	Left Ventricle	heart
2	chr7:112625000-112629000	Enhancers	HMEC	breast
3	chr7:112625000-112631200	Enhancers	Fetal Heart	heart
4	chr7:112625800-112628600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:112625800-112629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:112626200-112628400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:112626200-112628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:112626400-112628600	Enhancers	Osteobl	bone
9	chr7:112626600-112628400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:112626600-112628600	Enhancers	NHLF	lung
11	chr7:112626600-112628800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:112626800-112628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:112626800-112628600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:112626800-112630400	Weak transcription	NHEK	skin
15	chr7:112626800-112631400	Enhancers	NH-A	brain
16	chr7:112627200-112628600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:112627200-112631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:112627400-112631600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:112627800-112629800	Weak transcription	NHDF-Ad	bronchial
20	chr7:112627800-112630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:112627800-112630400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:112627800-112635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:112628000-112628800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:112628000-112635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:112628200-112628600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:112628200-112628600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:112628200-112628600	Genic enhancers	HSMM	muscle
28	chr7:112628200-112628600	Weak transcription	HSMMtube	muscle
29	chr7:112628400-112628800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:112628400-112629000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:112628400-112629200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:112628400-112629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:112628600-112628800	Enhancers	HSMMtube	muscle
34	chr7:112628600-112629200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:112628600-112629600	Weak transcription	HSMM	muscle
36	chr7:112628600-112629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:112628600-112629800	Weak transcription	Osteobl	bone
38	chr7:112628600-112634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:112628600-112635200	Weak transcription	NHLF	lung
40	chr7:112628800-112629400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:112628800-112629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:112628800-112634800	Weak transcription	HSMMtube	muscle
43	chr7:112629000-112629600	Weak transcription	HMEC	breast
44	chr7:112629000-112630400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:112629000-112630400	Enhancers	Stomach Mucosa	stomach
46	chr7:112629200-112629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:112629200-112629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:112629600-112629800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:112629600-112629800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:112629600-112630600	Enhancers	HSMM	muscle

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