Variant report

Variant	esv33085
Chromosome Location	chr7:129438848-129446659
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129443158..129445019-chr7:129452713..129455693,2	K562	blood:
2	chr7:129304062..129304808-chr7:129438935..129439437,2	K562	blood:
3	chr7:129418686..129423959-chr7:129438384..129442719,6	MCF-7	breast:
4	chr7:129420506..129423623-chr7:129440322..129443284,4	K562	blood:
5	chr7:129435656..129438159-chr7:129441228..129443565,3	K562	blood:
6	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
7	chr7:129440650..129441638-chr7:129465622..129466411,2	K562	blood:
8	chr7:129443362..129446037-chr7:129458801..129461329,2	K562	blood:
9	chr7:129445172..129447751-chr7:129449224..129452364,3	K562	blood:
10	chr7:129330503..129333006-chr7:129437406..129439224,2	K562	blood:
11	chr7:129445172..129447751-chr7:129449224..129452042,3	K562	blood:
12	chr7:129433565..129436796-chr7:129437079..129440076,5	K562	blood:
13	chr7:129435296..129437587-chr7:129438576..129440962,3	K562	blood:

No data

Extended variants
information (count: 302 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75813692	chr7:129438867-129438868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547836430	chr7:129438902-129438903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182484644	chr7:129438903-129438904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558164840	chr7:129438934-129438935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567827739	chr7:129438935-129438936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78780581	chr7:129439015-129439016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540817172	chr7:129439016-129439017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559391422	chr7:129439030-129439031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574408706	chr7:129439031-129439032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542048213	chr7:129439032-129439033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539507874	chr7:129439097-129439098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563444524	chr7:129439102-129439103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527244989	chr7:129439111-129439112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376317684	chr7:129439132-129439133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56848593	chr7:129439136-129439137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552481956	chr7:129439144-129439145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571439128	chr7:129439157-129439158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565161181	chr7:129439171-129439172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540142791	chr7:129439196-129439197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149325113	chr7:129439232-129439233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547614459	chr7:129439311-129439312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566170493	chr7:129439337-129439338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143424696	chr7:129439354-129439355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111902248	chr7:129439358-129439359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373092197	chr7:129439426-129439427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs1554727	chr7:129439442-129439443	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559201184	chr7:129439474-129439475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147992039	chr7:129439475-129439476	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs534620290	chr7:129439501-129439502	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs139678365	chr7:129439518-129439519	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs552645688	chr7:129439528-129439529	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574497645	chr7:129439565-129439566	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs76736721	chr7:129439636-129439637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs563507511	chr7:129439651-129439652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs74402555	chr7:129439669-129439670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs141680632	chr7:129439673-129439674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564393972	chr7:129439674-129439675	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs528330042	chr7:129439694-129439695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs547793510	chr7:129439720-129439721	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs559456178	chr7:129439756-129439757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530170988	chr7:129439815-129439816	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370292589	chr7:129439869-129439870	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374401452	chr7:129439910-129439911	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62491473	chr7:129440027-129440028	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552455801	chr7:129440041-129440042	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116825894	chr7:129440113-129440114	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534977681	chr7:129440114-129440115	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552948934	chr7:129440139-129440140	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568046179	chr7:129440143-129440144	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535570303	chr7:129440160-129440161	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129435800-129439600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:129436000-129440600	Enhancers	Fetal Muscle Leg	muscle
3	chr7:129436400-129439000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:129436400-129439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:129436600-129444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129436800-129439400	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:129437000-129439200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:129438000-129441800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:129438200-129444600	Weak transcription	Spleen	Spleen
10	chr7:129438400-129439400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:129438400-129442000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:129438400-129443600	Weak transcription	Gastric	stomach
13	chr7:129438800-129439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:129439000-129441800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:129439200-129439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:129439400-129440800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr7:129439400-129444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:129439600-129439800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:129439600-129442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:129439800-129441800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:129440600-129440800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr7:129441000-129441200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:129441200-129445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:129441400-129442200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:129441400-129442600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:129441600-129442600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:129441600-129442600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:129441800-129442200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:129441800-129442400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:129441800-129442600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:129441800-129442600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:129441800-129444200	Enhancers	Fetal Muscle Leg	muscle
33	chr7:129442000-129442200	Enhancers	K562	blood
34	chr7:129442000-129442600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:129442000-129442800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:129442000-129442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:129442200-129445000	Weak transcription	K562	blood
38	chr7:129442400-129442600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:129442400-129442600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:129442400-129444200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:129442600-129443600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:129442600-129444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:129442600-129447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:129442800-129443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:129442800-129445200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:129443400-129444400	Enhancers	Pancreas	Pancrea
47	chr7:129443600-129444800	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:129443600-129445600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:129443600-129445600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:129443600-129445600	Enhancers	Gastric	stomach

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