Variant report

Variant	nsv605935
Chromosome Location	chr7:3713194-3799580
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
2	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
3	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
4	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
5	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
6	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
7	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
8	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
9	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
10	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
11	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
12	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
13	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
14	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:

No data

Extended variants
information (count: 5139 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:5139 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13223746	chr7:3713194-3713195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373690568	chr7:3713195-3713196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148263387	chr7:3713196-3713197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527729049	chr7:3713211-3713212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542207441	chr7:3713225-3713226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562011905	chr7:3713245-3713246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575680562	chr7:3713292-3713293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191316712	chr7:3713303-3713304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541234332	chr7:3713304-3713305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560007452	chr7:3713309-3713310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533202606	chr7:3713311-3713312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540492927	chr7:3713316-3713317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552570404	chr7:3713342-3713343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560466648	chr7:3713393-3713394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141269518	chr7:3713396-3713397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150778679	chr7:3713485-3713486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376713323	chr7:3713511-3713512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114902226	chr7:3713571-3713572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531413368	chr7:3713601-3713602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531754711	chr7:3713607-3713608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139138414	chr7:3713635-3713636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184658708	chr7:3713648-3713649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367875899	chr7:3713689-3713690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539651411	chr7:3713691-3713692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143152092	chr7:3713700-3713701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147482541	chr7:3713703-3713704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375316817	chr7:3713715-3713716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560517102	chr7:3713736-3713737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535808142	chr7:3713764-3713765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75793132	chr7:3713782-3713783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575598669	chr7:3713795-3713796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544712065	chr7:3713824-3713825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139883150	chr7:3713841-3713842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575204472	chr7:3713877-3713878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540456008	chr7:3713882-3713883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560155114	chr7:3713885-3713886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529171001	chr7:3713896-3713897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542583148	chr7:3713905-3713906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548789935	chr7:3713932-3713933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189498462	chr7:3713939-3713940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376373852	chr7:3713986-3713987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115319108	chr7:3714019-3714020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571010753	chr7:3714021-3714022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533319150	chr7:3714042-3714043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546804635	chr7:3714046-3714047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386709484	chr7:3714058-3714059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566983534	chr7:3714065-3714066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542682194	chr7:3714092-3714093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192856250	chr7:3714099-3714100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80356258	chr7:3714108-3714109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
2	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
4	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:3712000-3713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:3712800-3713200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:3712800-3713200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:3713000-3713200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:3713000-3713400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:3713000-3721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:3713200-3713400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:3716600-3716800	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:3721200-3723400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:3721600-3721800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:3721600-3722000	Enhancers	HepG2	liver
17	chr7:3721600-3723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:3721800-3722200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:3721800-3722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:3721800-3722200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:3721800-3722200	Enhancers	Spleen	Spleen
22	chr7:3721800-3722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:3721800-3722400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:3721800-3724200	Enhancers	Fetal Intestine Small	intestine
25	chr7:3721800-3724400	Enhancers	Fetal Intestine Large	intestine
26	chr7:3722000-3722200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:3722000-3722200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:3722000-3722200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr7:3722000-3722200	Enhancers	Brain Substantia Nigra	brain
30	chr7:3722000-3722200	Enhancers	Gastric	stomach
31	chr7:3722000-3722200	Enhancers	Pancreas	Pancrea
32	chr7:3722000-3722200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:3722000-3722400	Enhancers	Adipose Nuclei	Adipose
34	chr7:3722000-3722400	Enhancers	Liver	Liver
35	chr7:3722000-3722400	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:3722000-3722400	Flanking Active TSS	HepG2	liver
37	chr7:3722200-3722400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:3722200-3723000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:3722200-3723200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:3722200-3723200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:3722200-3723200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:3722200-3723400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:3722200-3723600	Weak transcription	Gastric	stomach
44	chr7:3722200-3723600	Weak transcription	Spleen	Spleen
45	chr7:3722200-3738000	Weak transcription	Pancreas	Pancrea
46	chr7:3722400-3723200	Enhancers	HepG2	liver
47	chr7:3722400-3725400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:3722800-3724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:3722800-3724400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:3723000-3724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links