Variant report

Variant	nsv1018515
Chromosome Location	chr7:116380755-116391582
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116350356..116351923-chr7:116379253..116382070,2	MCF-7	breast:
2	chr7:116366372..116369046-chr7:116379094..116381219,3	MCF-7	breast:
3	7:115847372-115857098..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
4	chr7:116374893..116376697-chr7:116378705..116380851,2	K562	blood:
5	chr7:116382950..116385593-chr7:116392387..116393932,2	MCF-7	breast:
6	chr7:116377829..116379958-chr7:116381598..116383954,2	MCF-7	breast:
7	7:115890993-115892266..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
8	chr7:116363120..116364860-chr7:116380706..116382231,2	MCF-7	breast:
9	chr7:116391329..116393101-chr7:116400609..116402352,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105976	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:421 , 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	rs554643413	chr7:116380760-116380761	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544272319	chr7:116380828-116380829	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556216308	chr7:116380867-116380868	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574459492	chr7:116380868-116380869	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371124109	chr7:116380910-116380911	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201878238	chr7:116380950-116380951	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55755322	chr7:116380962-116380963	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200283364	chr7:116380978-116380979	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561347675	chr7:116381026-116381027	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377284387	chr7:116381037-116381038	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200218511	chr7:116381038-116381039	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370883654	chr7:116381041-116381042	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374733251	chr7:116381047-116381048	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs45460604	chr7:116381054-116381055	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73469198	chr7:116381104-116381105	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537459523	chr7:116381122-116381123	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565263933	chr7:116381131-116381132	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377658190	chr7:116381138-116381139	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553431706	chr7:116381154-116381155	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550738287	chr7:116381174-116381175	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569292290	chr7:116381273-116381274	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142880865	chr7:116381277-116381278	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181773926	chr7:116381348-116381349	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186856609	chr7:116381356-116381357	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371079191	chr7:116381363-116381364	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576504013	chr7:116381373-116381374	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566534022	chr7:116381374-116381375	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143326665	chr7:116381375-116381376	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558889725	chr7:116381506-116381507	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570802138	chr7:116381513-116381514	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537803270	chr7:116381576-116381577	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555892420	chr7:116381582-116381583	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148354710	chr7:116381600-116381601	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191707300	chr7:116381620-116381621	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553864000	chr7:116381621-116381622	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370278865	chr7:116381650-116381651	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141552422	chr7:116381655-116381656	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375806834	chr7:116381696-116381697	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565227835	chr7:116381710-116381711	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532673717	chr7:116381736-116381737	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12386593	chr7:116381751-116381752	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115566611	chr7:116381775-116381776	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183375652	chr7:116381789-116381790	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373618465	chr7:116381814-116381815	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372968031	chr7:116381818-116381819	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73208165	chr7:116381832-116381833	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552871115	chr7:116381839-116381840	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188382413	chr7:116381847-116381848	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4360233	chr7:116381860-116381861	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190100786	chr7:116381878-116381879	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Myxofibrosarcoma	20639860	CNVD
Clear cell adenocarcinoma	21983935	CNVD
Gastric cancer	21097718	CNVD
Adenocarcinoma	21983935	CNVD
Lung cancer	21062933	CNVD
Prostate cancer	22341455	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116351800-116407000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:116357400-116409800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116366600-116380800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:116367000-116380800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:116367800-116381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:116368000-116381200	Weak transcription	Placenta	Placenta
7	chr7:116368200-116380800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:116371800-116382800	Weak transcription	Left Ventricle	heart
9	chr7:116375000-116418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:116375400-116380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:116375400-116381200	Weak transcription	Pancreas	Pancrea
12	chr7:116375600-116381400	Weak transcription	Brain Substantia Nigra	brain
13	chr7:116375800-116411200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:116376000-116380800	Weak transcription	Gastric	stomach
15	chr7:116376200-116381000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:116377400-116381400	Enhancers	Liver	Liver
17	chr7:116377400-116382800	Weak transcription	Psoas Muscle	Psoas
18	chr7:116377600-116381400	Weak transcription	Aorta	Aorta
19	chr7:116377800-116380800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:116377800-116380800	Weak transcription	HMEC	breast
21	chr7:116377800-116395600	Weak transcription	NH-A	brain
22	chr7:116378000-116381200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:116378000-116381600	Weak transcription	Fetal Intestine Large	intestine
24	chr7:116378000-116389000	Weak transcription	Stomach Mucosa	stomach
25	chr7:116378200-116381000	Enhancers	HUVEC	blood vessel
26	chr7:116378600-116381400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:116378600-116381400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:116378600-116381400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:116378800-116422200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:116379000-116381600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:116379000-116384600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:116379000-116385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:116379200-116381600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:116379200-116381600	Weak transcription	Fetal Kidney	kidney
35	chr7:116379200-116381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:116379200-116382200	Weak transcription	Fetal Lung	lung
37	chr7:116379200-116384400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:116379400-116381400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:116379600-116380800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:116379600-116380800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:116379600-116382200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:116379800-116380800	Strong transcription	Osteobl	bone
43	chr7:116379800-116382400	Genic enhancers	NHEK	skin
44	chr7:116379800-116382800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:116380000-116380800	Strong transcription	HSMM	muscle
46	chr7:116380000-116381000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:116380000-116382000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:116380000-116382400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:116380000-116383200	Genic enhancers	HepG2	liver
50	chr7:116380200-116381200	Weak transcription	Fetal Stomach	stomach

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