Variant report

Variant	nsv527643
Chromosome Location	chr7:137929307-137954419
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137942710..137944312-chr7:138144194..138147035,2	K562	blood:
2	chr7:137878389..137879265-chr7:137929966..137930816,6	MCF-7	breast:
3	chr7:137947637..137950178-chr7:138143942..138146389,2	K562	blood:
4	chr7:137943142..137945844-chr7:137949610..137951608,2	K562	blood:
5	chr7:137919927..137921486-chr7:137928600..137931150,2	MCF-7	breast:
6	chr7:137928244..137930040-chr7:137931548..137933077,2	K562	blood:
7	chr7:137928244..137930040-chr7:137931548..137933077,2	K562	blood:
8	chr7:137927382..137930242-chr7:137937479..137939560,2	MCF-7	breast:
9	chr7:137878463..137879263-chr7:137929966..137930618,2	MCF-7	breast:
10	chr7:137929429..137931956-chr7:138145009..138148414,3	MCF-7	breast:
11	chr7:137917155..137919916-chr7:137928733..137931455,2	MCF-7	breast:
12	chr7:137947555..137949067-chr7:137952751..137956382,3	K562	blood:
13	chr7:137943142..137945844-chr7:137949610..137951608,2	K562	blood:
14	chr7:137927382..137930242-chr7:137937479..137939560,2	MCF-7	breast:
15	chr7:137947555..137949067-chr7:137952751..137956382,3	K562	blood:
16	chr7:137941053..137942559-chr7:138036086..138038896,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 1103 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7802723	chr7:137929307-137929308	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187564840	chr7:137929325-137929326	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550315650	chr7:137929330-137929331	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2465077	chr7:137929383-137929384	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs528655885	chr7:137929391-137929392	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs56224181	chr7:137929409-137929410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558506038	chr7:137929426-137929427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565863658	chr7:137929457-137929458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192687442	chr7:137929507-137929508	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554400963	chr7:137929549-137929550	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537248881	chr7:137929585-137929586	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542984876	chr7:137929590-137929591	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12531435	chr7:137929612-137929613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184814345	chr7:137929618-137929619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201515559	chr7:137929632-137929633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs386718296	chr7:137929634-137929635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199717344	chr7:137929635-137929636	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12531459	chr7:137929671-137929672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2431047	chr7:137929682-137929683	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187621570	chr7:137929699-137929700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374360282	chr7:137929708-137929709	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34415288	chr7:137929729-137929730	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192210549	chr7:137929771-137929772	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541757857	chr7:137929845-137929846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143094601	chr7:137929855-137929856	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561779601	chr7:137929856-137929857	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530139192	chr7:137929878-137929879	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185053221	chr7:137929911-137929912	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564830171	chr7:137929942-137929943	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs117892517	chr7:137929992-137929993	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189888872	chr7:137929998-137929999	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192685619	chr7:137930000-137930001	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552592486	chr7:137930014-137930015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565744932	chr7:137930023-137930024	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs534781151	chr7:137930031-137930032	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11762098	chr7:137930038-137930039	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548099473	chr7:137930046-137930047	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184671882	chr7:137930053-137930054	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536930409	chr7:137930060-137930061	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556576930	chr7:137930077-137930078	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115429546	chr7:137930099-137930100	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539165221	chr7:137930109-137930110	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2465908	chr7:137930112-137930113	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs566919046	chr7:137930129-137930130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11762167	chr7:137930132-137930133	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541612288	chr7:137930195-137930196	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146694938	chr7:137930222-137930223	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575244958	chr7:137930243-137930244	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566451687	chr7:137930256-137930257	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115561639	chr7:137930305-137930306	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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	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
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137915000-137931800	Weak transcription	Right Atrium	heart
2	chr7:137921800-137929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:137924600-137929400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:137927400-137929400	Weak transcription	Ovary	ovary
5	chr7:137927400-137930000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:137927600-137932000	Enhancers	HepG2	liver
7	chr7:137927600-137933200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:137927800-137930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:137928000-137932000	Enhancers	Fetal Heart	heart
10	chr7:137928200-137932400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:137928600-137929600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:137928600-137929600	Weak transcription	Fetal Stomach	stomach
13	chr7:137928600-137929800	Weak transcription	Fetal Intestine Large	intestine
14	chr7:137928600-137930000	Weak transcription	Fetal Kidney	kidney
15	chr7:137928600-137930000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:137928600-137931000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:137928600-137931200	Enhancers	Liver	Liver
18	chr7:137928600-137931800	Weak transcription	NH-A	brain
19	chr7:137928600-137932400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:137928600-137933800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:137928800-137929400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:137928800-137929600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:137928800-137930200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:137928800-137931800	Weak transcription	K562	blood
25	chr7:137928800-137932000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137928800-137933000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:137928800-137933200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:137928800-137933200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:137928800-137933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:137929000-137929400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:137929000-137933400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:137929200-137933600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr7:137929400-137930200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:137929400-137930200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:137929400-137930200	Enhancers	Ovary	ovary
36	chr7:137929400-137930400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr7:137929400-137931400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:137929400-137932600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:137929600-137930200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr7:137929600-137930600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:137929600-137931400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:137929600-137931600	Enhancers	Fetal Intestine Small	intestine
43	chr7:137929800-137930000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:137929800-137930000	Enhancers	Fetal Stomach	stomach
45	chr7:137929800-137930000	Enhancers	A549	lung
46	chr7:137929800-137931200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:137929800-137931600	Enhancers	Fetal Intestine Large	intestine
48	chr7:137930000-137930200	Enhancers	Spleen	Spleen
49	chr7:137930000-137930400	Enhancers	Hela-S3	cervix
50	chr7:137930000-137932000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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