Variant report

Variant	esv3390292
Chromosome Location	chr7:101175732-101179930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100481636..100484025-chr7:101177700..101179371,2	K562	blood:
2	chr7:101175649..101178492-chr7:101181142..101183684,2	K562	blood:
3	chr7:101175649..101178492-chr7:101180631..101183684,3	K562	blood:

Variant related genes	Relation type
ENSG00000087087	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572893659	chr7:101175766-101175767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs6966822	chr7:101175820-101175821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556491954	chr7:101175823-101175824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561942643	chr7:101175848-101175849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539672164	chr7:101175859-101175860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114876244	chr7:101175876-101175877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575746696	chr7:101175928-101175929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550813976	chr7:101175929-101175930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185630566	chr7:101175950-101175951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544624260	chr7:101175963-101175964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533597852	chr7:101175978-101175979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6967280	chr7:101176040-101176041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113751661	chr7:101176045-101176046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540335670	chr7:101176059-101176060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369717103	chr7:101176065-101176066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534496831	chr7:101176079-101176080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560773324	chr7:101176131-101176132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6949545	chr7:101176140-101176141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75622700	chr7:101176150-101176151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537929648	chr7:101176152-101176153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556012838	chr7:101176157-101176158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139468597	chr7:101176204-101176205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538485843	chr7:101176210-101176211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553560684	chr7:101176216-101176217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571963779	chr7:101176236-101176237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115517244	chr7:101176254-101176255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562080757	chr7:101176260-101176261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573986476	chr7:101176273-101176274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562833328	chr7:101176288-101176289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544674614	chr7:101176304-101176305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563008543	chr7:101176319-101176320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369067942	chr7:101176336-101176337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373283127	chr7:101176341-101176342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533472601	chr7:101176381-101176382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375444489	chr7:101176398-101176399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369433656	chr7:101176402-101176403	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs373698404	chr7:101176432-101176433	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs551955971	chr7:101176440-101176441	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs560688435	chr7:101176448-101176449	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs376810197	chr7:101176461-101176462	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs370701792	chr7:101176472-101176473	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549445010	chr7:101176485-101176486	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs567231388	chr7:101176486-101176487	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs547804665	chr7:101176487-101176488	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs544228053	chr7:101176492-101176493	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs1476655	chr7:101176505-101176506	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549838612	chr7:101176513-101176514	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs62465091	chr7:101176530-101176531	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6968239	chr7:101176531-101176532	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144209328	chr7:101176553-101176554	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101151000-101181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101159600-101188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:101160200-101178600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:101160400-101178600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:101160400-101186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:101160600-101190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:101161800-101186000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101167200-101184200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:101167800-101177600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:101170000-101183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:101171200-101178200	Weak transcription	Pancreas	Pancrea
12	chr7:101171800-101177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:101171800-101187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:101172000-101177000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:101172000-101178000	Weak transcription	Liver	Liver
16	chr7:101174600-101178600	Weak transcription	Right Atrium	heart
17	chr7:101175000-101176000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:101175000-101178600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:101175200-101175800	Enhancers	Fetal Lung	lung
20	chr7:101175400-101178400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:101175600-101175800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:101175600-101176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:101175600-101177800	Weak transcription	Fetal Kidney	kidney
24	chr7:101175800-101178800	Weak transcription	Fetal Lung	lung
25	chr7:101176200-101181400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:101176400-101176600	Weak transcription	Spleen	Spleen
27	chr7:101176400-101176800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:101176400-101178600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:101176400-101190800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:101177000-101177400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:101177000-101177600	ZNF genes & repeats	Spleen	Spleen
32	chr7:101177000-101180800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:101177400-101177800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:101177400-101180800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:101177400-101181400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:101177600-101178400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr7:101177600-101178600	Weak transcription	Spleen	Spleen
38	chr7:101177800-101178000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr7:101177800-101179000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:101178000-101182200	Enhancers	Liver	Liver
41	chr7:101178200-101178600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:101178200-101179000	Enhancers	Pancreas	Pancrea
43	chr7:101178200-101179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:101178200-101179800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:101178200-101182600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr7:101178200-101182600	Enhancers	Fetal Muscle Leg	muscle
47	chr7:101178400-101178600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:101178400-101179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:101178400-101179400	Enhancers	HSMMtube	muscle
50	chr7:101178400-101181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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