Variant report

Variant	esv989073
Chromosome Location	chr7:127800713-127812327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127796671..127799256-chr7:127799525..127801651,2	K562	blood:
2	chr7:127804591..127807479-chr7:127875712..127877601,2	K562	blood:
3	chr7:127799537..127801607-chr7:127803464..127805695,2	K562	blood:
4	chr7:127808763..127810405-chr7:127810686..127812712,2	MCF-7	breast:
5	chr7:127806235..127809170-chr7:127810830..127812397,2	K562	blood:
6	chr7:127808763..127810405-chr7:127810686..127812712,2	MCF-7	breast:
7	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:
8	chr7:127811595..127818089-chr7:127821364..127826957,7	K562	blood:
9	chr7:127799897..127802659-chr7:127804825..127806354,2	K562	blood:
10	chr7:127803231..127805511-chr7:127810379..127811917,2	MCF-7	breast:
11	chr7:127808536..127810762-chr7:127818528..127820874,2	MCF-7	breast:
12	chr7:127803231..127805511-chr7:127810379..127811917,2	MCF-7	breast:
13	chr7:127799537..127801607-chr7:127803464..127805695,2	K562	blood:
14	chr7:127799897..127802659-chr7:127804825..127806354,2	K562	blood:
15	chr7:127795407..127797844-chr7:127804124..127806542,3	MCF-7	breast:
16	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:
17	chr7:127806235..127809170-chr7:127810830..127812397,2	K562	blood:
18	chr7:127799917..127801539-chr7:127837729..127840033,2	K562	blood:
19	chr7:127789193..127791588-chr7:127802613..127804788,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEP-2	chr7:127807726-127808018	NONHSAT123172

No data

Extended variants
information (count: 406 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372296373	chr7:127800716-127800717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78883391	chr7:127800730-127800731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112267935	chr7:127800743-127800744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531141515	chr7:127800762-127800763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552340718	chr7:127800815-127800816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570917718	chr7:127800828-127800829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116024924	chr7:127800911-127800912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144071915	chr7:127800926-127800927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192842471	chr7:127800939-127800940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536517295	chr7:127801022-127801023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112764133	chr7:127801078-127801079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569705108	chr7:127801096-127801097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184487182	chr7:127801124-127801125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189366934	chr7:127801144-127801145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371559377	chr7:127801155-127801156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576258275	chr7:127801183-127801184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4731406	chr7:127801206-127801207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552521928	chr7:127801237-127801238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62484033	chr7:127801247-127801248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542075889	chr7:127801271-127801272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564009825	chr7:127801310-127801311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193141953	chr7:127801323-127801324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184951601	chr7:127801329-127801330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372666654	chr7:127801333-127801334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138996597	chr7:127801371-127801372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563843952	chr7:127801375-127801376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528569922	chr7:127801380-127801381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547132360	chr7:127801385-127801386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189288686	chr7:127801401-127801402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529308526	chr7:127801409-127801410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550746313	chr7:127801473-127801474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569923685	chr7:127801478-127801479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536979832	chr7:127801486-127801487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552325943	chr7:127801546-127801547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143006910	chr7:127801557-127801558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10216248	chr7:127801605-127801606	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116089592	chr7:127801620-127801621	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs181672457	chr7:127801625-127801626	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs535425744	chr7:127801636-127801637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs35308706	chr7:127801660-127801661	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs144706400	chr7:127801710-127801711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs185967937	chr7:127801737-127801738	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs116356417	chr7:127801738-127801739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs533296358	chr7:127801759-127801760	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs564669479	chr7:127801772-127801773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs573486777	chr7:127801846-127801847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189741126	chr7:127801895-127801896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549801205	chr7:127801916-127801917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562160818	chr7:127801937-127801938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4728089	chr7:127801942-127801943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	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
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127790600-127803400	Weak transcription	Spleen	Spleen
2	chr7:127800400-127800800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127800800-127803200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127801000-127802000	Enhancers	HMEC	breast
5	chr7:127801200-127802200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:127801400-127803800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:127801600-127801800	Bivalent Enhancer	Osteobl	bone
8	chr7:127801800-127802000	Enhancers	HSMM	muscle
9	chr7:127802000-127803000	Weak transcription	HMEC	breast
10	chr7:127802000-127803800	Weak transcription	HSMM	muscle
11	chr7:127802200-127803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:127802600-127802800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:127803000-127806600	Enhancers	HMEC	breast
14	chr7:127803200-127804600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:127803200-127805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:127803200-127806000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:127803400-127804400	Enhancers	NHEK	skin
18	chr7:127803400-127804600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:127803600-127805200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr7:127803600-127805400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127803600-127805400	Enhancers	NH-A	brain
22	chr7:127803600-127805800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:127803600-127805800	Enhancers	Hela-S3	cervix
24	chr7:127803600-127806000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:127803600-127806400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:127803800-127804600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:127803800-127804600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:127803800-127804800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr7:127803800-127804800	Enhancers	Pancreas	Pancrea
30	chr7:127803800-127805000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr7:127803800-127805000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr7:127803800-127805200	Enhancers	Osteobl	bone
33	chr7:127803800-127805400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:127803800-127805400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:127803800-127805600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127803800-127805600	Enhancers	HSMM	muscle
37	chr7:127803800-127806200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr7:127803800-127806200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr7:127803800-127806400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr7:127804000-127804200	Enhancers	Gastric	stomach
41	chr7:127804000-127804200	Bivalent Enhancer	A549	lung
42	chr7:127804000-127805200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr7:127804000-127805200	Enhancers	NHDF-Ad	bronchial
44	chr7:127804000-127805400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:127804000-127805400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:127804000-127805800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:127804200-127805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:127804200-127805400	Enhancers	A549	lung
49	chr7:127804200-127805800	Enhancers	HSMMtube	muscle
50	chr7:127804400-127804800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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