Variant report

Variant	nsv520950
Chromosome Location	chr7:137154572-137167984
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	CCNT2	chr7:137165823-137165832	K562	blood:	n/a	n/a
2	EBF1	chr7:137165429-137165777	GM12878	blood:	n/a	chr7:137165583-137165594 chr7:137165584-137165594
3	EP300	chr7:137160750-137161089	SK-N-SH_RA	brain:	n/a	chr7:137161067-137161081
4	FOS	chr7:137160690-137161090	MCF10A-Er-Src	breast:	n/a	chr7:137160967-137160975 chr7:137160844-137160852 chr7:137160845-137160852 chr7:137160843-137160853 chr7:137160844-137160852
5	FOS	chr7:137160747-137161004	MCF10A-Er-Src	breast:	n/a	chr7:137160967-137160975 chr7:137160844-137160852 chr7:137160845-137160852 chr7:137160843-137160853 chr7:137160844-137160852
6	FOS	chr7:137160747-137161039	MCF10A-Er-Src	breast:	n/a	chr7:137160967-137160975 chr7:137160844-137160852 chr7:137160845-137160852 chr7:137160843-137160853 chr7:137160844-137160852
7	FOS	chr7:137160725-137161115	MCF10A-Er-Src	breast:	n/a	chr7:137160967-137160975 chr7:137160844-137160852 chr7:137160845-137160852 chr7:137160843-137160853 chr7:137160844-137160852
8	FOSL2	chr7:137160680-137161184	SK-N-SH	brain:	n/a	chr7:137160967-137160975 chr7:137160844-137160852 chr7:137160845-137160852 chr7:137160843-137160853 chr7:137160844-137160852
9	GATA3	chr7:137163632-137164154	SK-N-SH	brain:	n/a	chr7:137163844-137163865 chr7:137163851-137163858 chr7:137163851-137163858 chr7:137163851-137163858
10	GATA3	chr7:137158264-137158460	SH-SY5Y	brain:	n/a	n/a
11	MAX	chr7:137166362-137166520	NB4	blood:	n/a	n/a
12	MYC	chr7:137161816-137161918	NB4	blood:	n/a	n/a
13	PBX3	chr7:137160721-137161183	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr7:137160772-137161267	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr7:137157986-137158000	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:137160610-137161057	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:137160802-137160906	ProgFib	skin:	n/a	n/a
18	POLR2A	chr7:137161755-137161818	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr7:137165782-137165795	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:137160921-137160922	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:137162585-137162633	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr7:137160819-137161065	MCF10A-Er-Src	breast:	n/a	chr7:137160928-137160936
23	STAT3	chr7:137167425-137167538	MCF10A-Er-Src	breast:	n/a	chr7:137167454-137167462
24	STAT3	chr7:137164847-137165000	MCF10A-Er-Src	breast:	n/a	n/a
25	TCF12	chr7:137165656-137166097	SK-N-SH	brain:	n/a	n/a
26	ZNF274	chr7:137156707-137157161	K562	blood:	n/a	n/a
27	ZNF384	chr7:137165199-137165481	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137154851..137155363-chr8:72539972..72540472,2	MCF-7	breast:
2	chr7:137159775..137161658-chr7:137173667..137176568,2	K562	blood:
3	chr7:137167327..137170401-chr7:137172141..137174292,3	K562	blood:

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 536 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2293546	chr7:137154572-137154573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184851768	chr7:137154596-137154597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544483063	chr7:137154681-137154682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564284513	chr7:137154710-137154711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78846733	chr7:137154726-137154727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189135746	chr7:137154776-137154777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559586019	chr7:137154785-137154786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192177449	chr7:137154818-137154819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368741174	chr7:137154825-137154826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114976509	chr7:137154857-137154858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541787109	chr7:137154861-137154862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73730628	chr7:137154866-137154867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142312750	chr7:137154886-137154887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151268474	chr7:137154917-137154918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28573283	chr7:137154943-137154944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115730592	chr7:137155044-137155045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539635524	chr7:137155046-137155047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140463722	chr7:137155056-137155057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185025383	chr7:137155097-137155098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541200625	chr7:137155098-137155099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190170325	chr7:137155099-137155100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555082353	chr7:137155110-137155111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372104969	chr7:137155201-137155202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534875352	chr7:137155218-137155219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181368792	chr7:137155241-137155242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116820232	chr7:137155256-137155257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369733976	chr7:137155275-137155276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538143173	chr7:137155292-137155293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145632691	chr7:137155297-137155298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372497402	chr7:137155307-137155308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186534768	chr7:137155322-137155323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188437157	chr7:137155331-137155332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571004426	chr7:137155332-137155333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73445312	chr7:137155340-137155341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564175263	chr7:137155348-137155349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540412309	chr7:137155357-137155358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80310563	chr7:137155361-137155362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146531540	chr7:137155369-137155370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542275816	chr7:137155382-137155383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141067416	chr7:137155386-137155387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144787732	chr7:137155422-137155423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544542885	chr7:137155454-137155455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138568201	chr7:137155499-137155500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180700011	chr7:137155514-137155515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79167826	chr7:137155527-137155528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567019368	chr7:137155530-137155531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528987330	chr7:137155538-137155539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555060419	chr7:137155726-137155727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549018163	chr7:137155728-137155729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79564202	chr7:137155753-137155754	Weak transcription Enhancers	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
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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137139800-137165000	Weak transcription	Fetal Brain Female	brain
2	chr7:137147800-137160600	Weak transcription	NH-A	brain
3	chr7:137148000-137160400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:137148200-137161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137148400-137160400	Weak transcription	HSMMtube	muscle
6	chr7:137148400-137160800	Weak transcription	HSMM	muscle
7	chr7:137148600-137206400	Weak transcription	Aorta	Aorta
8	chr7:137149600-137160600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137149600-137161600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:137150800-137160600	Weak transcription	Osteobl	bone
11	chr7:137151200-137160800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137152000-137159400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:137152000-137179400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137153400-137156000	Enhancers	Fetal Heart	heart
15	chr7:137153600-137154600	Enhancers	HUVEC	blood vessel
16	chr7:137154000-137154600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:137154000-137155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:137154200-137154600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:137154200-137155000	Enhancers	Right Atrium	heart
20	chr7:137154600-137155800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:137155000-137156000	Weak transcription	Right Atrium	heart
22	chr7:137155800-137156200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:137156000-137156200	Enhancers	Right Atrium	heart
24	chr7:137156000-137157600	Weak transcription	Fetal Heart	heart
25	chr7:137157600-137157800	Enhancers	Fetal Heart	heart
26	chr7:137158400-137159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:137159400-137159600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:137159400-137162400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:137160400-137162000	Enhancers	HSMMtube	muscle
30	chr7:137160600-137160800	Enhancers	Brain Anterior Caudate	brain
31	chr7:137160600-137162000	Enhancers	NH-A	brain
32	chr7:137160600-137162200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:137160600-137162200	Enhancers	Osteobl	bone
34	chr7:137160800-137162000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:137160800-137162000	Enhancers	HMEC	breast
36	chr7:137160800-137162000	Enhancers	HSMM	muscle
37	chr7:137161200-137161800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:137161400-137162000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:137161600-137162000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:137161800-137162200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:137162000-137163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:137162000-137167400	Weak transcription	NH-A	brain
43	chr7:137162000-137179000	Weak transcription	HSMM	muscle
44	chr7:137162000-137179000	Weak transcription	HSMMtube	muscle
45	chr7:137162200-137167200	Weak transcription	Osteobl	bone
46	chr7:137162200-137169000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:137162400-137167400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:137163000-137163600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:137163600-137179000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:137165800-137166200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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