Variant report

Variant	nsv528070
Chromosome Location	chr7:98759117-98766930
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98749796..98751324-chr7:98758015..98760030,2	MCF-7	breast:
2	chr7:98762592..98764850-chr7:98807943..98809582,2	MCF-7	breast:
3	chr7:98694291..98695902-chr7:98757331..98759613,2	K562	blood:
4	chr7:98765362..98767556-chr7:98768550..98771320,2	K562	blood:
5	chr7:98760252..98762397-chr7:98816218..98818322,2	MCF-7	breast:
6	chr7:98764772..98767332-chr7:98921927..98924468,2	MCF-7	breast:
7	chr7:98744404..98747208-chr7:98758596..98760579,2	MCF-7	breast:
8	chr7:98738735..98743436-chr7:98753010..98762849,21	MCF-7	breast:
9	chr7:98758613..98761078-chr7:98822183..98824776,3	MCF-7	breast:
10	chr7:98740582..98743069-chr7:98764310..98765816,2	MCF-7	breast:
11	chr7:98758729..98762342-chr7:98808089..98809747,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198742	chromatin interactions
ENSG00000241685	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9297145	chr7:98759117-98759118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs183696372	chr7:98759119-98759120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372476360	chr7:98759133-98759134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79557583	chr7:98759140-98759141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138685482	chr7:98759160-98759161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565952709	chr7:98759269-98759270	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534364311	chr7:98759281-98759282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565901480	chr7:98759330-98759331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574434207	chr7:98759344-98759345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148958084	chr7:98759360-98759361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187850970	chr7:98759388-98759389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532517740	chr7:98759435-98759436	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78045664	chr7:98759447-98759448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75408460	chr7:98759557-98759558	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530240358	chr7:98759623-98759624	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191010013	chr7:98759631-98759632	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182156764	chr7:98759632-98759633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541552492	chr7:98759633-98759634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537972624	chr7:98759638-98759639	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370968262	chr7:98759661-98759662	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560241056	chr7:98759686-98759687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555823688	chr7:98759733-98759734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116292438	chr7:98759783-98759784	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35006776	chr7:98759800-98759801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143685823	chr7:98759833-98759834	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74491008	chr7:98759969-98759970	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115490950	chr7:98759992-98759993	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17161596	chr7:98760009-98760010	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186800205	chr7:98760033-98760034	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10230590	chr7:98760037-98760038	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554793692	chr7:98760083-98760084	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138510272	chr7:98760103-98760104	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558409383	chr7:98760120-98760121	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76452753	chr7:98760163-98760164	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6972972	chr7:98760180-98760181	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372073190	chr7:98760193-98760194	Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532556161	chr7:98760246-98760247	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78999965	chr7:98760253-98760254	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559478671	chr7:98760316-98760317	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10230942	chr7:98760317-98760318	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564004479	chr7:98760320-98760321	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530472377	chr7:98760325-98760326	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34438515	chr7:98760330-98760331	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563940911	chr7:98760341-98760342	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530974300	chr7:98760364-98760365	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79986481	chr7:98760407-98760408	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143986996	chr7:98760421-98760422	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570963557	chr7:98760422-98760423	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78673737	chr7:98760437-98760438	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555975644	chr7:98760448-98760449	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98753000-98759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:98753800-98760000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:98758800-98760000	Enhancers	A549	lung
4	chr7:98759400-98760600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:98759400-98760800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:98759400-98760800	Enhancers	NHEK	skin
7	chr7:98759800-98760000	Enhancers	HepG2	liver
8	chr7:98759800-98760600	Enhancers	Hela-S3	cervix
9	chr7:98759800-98760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:98759800-98760800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:98759800-98760800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:98759800-98760800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:98760000-98760200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:98760000-98760200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:98760000-98760200	Flanking Active TSS	HepG2	liver
16	chr7:98760000-98760400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:98760000-98760400	Flanking Active TSS	A549	lung
18	chr7:98760000-98760600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:98760000-98760600	Enhancers	Brain Substantia Nigra	brain
20	chr7:98760000-98760600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:98760000-98760600	Enhancers	NH-A	brain
22	chr7:98760000-98760600	Enhancers	Osteobl	bone
23	chr7:98760000-98760800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:98760000-98760800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:98760000-98760800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:98760000-98760800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:98760000-98760800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:98760000-98760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:98760000-98760800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:98760000-98760800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:98760000-98760800	Enhancers	Pancreas	Pancrea
32	chr7:98760000-98761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:98760200-98760400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:98760200-98760400	Enhancers	HepG2	liver
35	chr7:98760200-98760600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:98760200-98760600	Enhancers	Fetal Intestine Small	intestine
37	chr7:98760400-98760600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr7:98760400-98760600	Flanking Active TSS	HepG2	liver
39	chr7:98760400-98760800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:98760400-98760800	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:98760400-98760800	Enhancers	Stomach Mucosa	stomach
42	chr7:98760400-98760800	Enhancers	A549	lung
43	chr7:98760400-98760800	Enhancers	HMEC	breast
44	chr7:98760600-98760800	Enhancers	HepG2	liver
45	chr7:98760600-98761000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:98760600-98764600	Weak transcription	Fetal Intestine Small	intestine
47	chr7:98760800-98764600	Weak transcription	Stomach Mucosa	stomach
48	chr7:98760800-98767000	Weak transcription	HepG2	liver
49	chr7:98760800-98768600	Weak transcription	Pancreas	Pancrea
50	chr7:98761000-98761600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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