Variant report

Variant	nsv607925
Chromosome Location	chr7:98755272-98788589
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98738519..98741248-chr7:98774626..98776239,2	MCF-7	breast:
2	chr7:98769741..98772627-chr7:98922105..98924252,2	MCF-7	breast:
3	chr7:98765362..98767556-chr7:98768550..98771320,2	K562	blood:
4	chr7:98758729..98762342-chr7:98808089..98809747,3	MCF-7	breast:
5	chr7:98745845..98748521-chr7:98754573..98756801,2	K562	blood:
6	chr7:98764772..98767332-chr7:98921927..98924468,2	MCF-7	breast:
7	chr7:98774867..98777763-chr7:98793623..98796162,2	K562	blood:
8	chr7:98738735..98743436-chr7:98753010..98762849,21	MCF-7	breast:
9	chr7:98758613..98761078-chr7:98822183..98824776,3	MCF-7	breast:
10	chr7:98749796..98751324-chr7:98758015..98760030,2	MCF-7	breast:
11	chr7:98766950..98769641-chr7:98774133..98776807,2	MCF-7	breast:
12	chr7:98762592..98764850-chr7:98807943..98809582,2	MCF-7	breast:
13	chr7:98694291..98695902-chr7:98757331..98759613,2	K562	blood:
14	chr7:98746993..98748569-chr7:98768043..98771030,2	MCF-7	breast:
15	chr7:98752785..98755054-chr7:98755672..98757585,2	MCF-7	breast:
16	chr7:98740582..98743069-chr7:98764310..98765816,2	MCF-7	breast:
17	chr7:98744404..98747208-chr7:98758596..98760579,2	MCF-7	breast:
18	chr7:98738717..98741614-chr7:98773276..98775542,2	K562	blood:
19	chr7:98741186..98743482-chr7:98781374..98783465,2	MCF-7	breast:
20	chr7:98765362..98767556-chr7:98768550..98771320,2	K562	blood:
21	chr7:98766950..98769641-chr7:98774133..98776807,2	MCF-7	breast:
22	chr7:98760252..98762397-chr7:98816218..98818322,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000241685	chromatin interactions
ENSG00000198742	chromatin interactions

Extended variants
information (count: 1628 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1628 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6975245	chr7:98755272-98755273	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74441270	chr7:98755284-98755285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143444644	chr7:98755332-98755333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9655764	chr7:98755346-98755347	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538694530	chr7:98755428-98755429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575607612	chr7:98755546-98755547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545847587	chr7:98755547-98755548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531733292	chr7:98755565-98755566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564452006	chr7:98755574-98755575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11977121	chr7:98755678-98755679	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540523907	chr7:98755718-98755719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183884614	chr7:98755719-98755720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529451053	chr7:98755735-98755736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548282646	chr7:98755783-98755784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563209744	chr7:98755784-98755785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530531774	chr7:98755805-98755806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540171042	chr7:98755898-98755899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570452773	chr7:98755910-98755911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111990991	chr7:98755912-98755913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143306072	chr7:98755959-98755960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186936774	chr7:98755973-98755974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148318808	chr7:98756085-98756086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76673579	chr7:98756101-98756102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377522621	chr7:98756127-98756128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535257755	chr7:98756165-98756166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376911052	chr7:98756166-98756167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536819391	chr7:98756179-98756180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557448153	chr7:98756195-98756196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569216163	chr7:98756196-98756197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542843217	chr7:98756245-98756246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554885928	chr7:98756302-98756303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369147686	chr7:98756319-98756320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565077780	chr7:98756356-98756357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573434684	chr7:98756409-98756410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557779765	chr7:98756424-98756425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572881724	chr7:98756433-98756434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540560622	chr7:98756434-98756435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540577661	chr7:98756490-98756491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111398169	chr7:98756491-98756492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376357257	chr7:98756500-98756501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555606901	chr7:98756514-98756515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574198507	chr7:98756534-98756535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192985775	chr7:98756546-98756547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558120329	chr7:98756553-98756554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374261368	chr7:98756573-98756574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530561305	chr7:98756590-98756591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6956283	chr7:98756597-98756598	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576901649	chr7:98756633-98756634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564098733	chr7:98756634-98756635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369430426	chr7:98756644-98756645	Weak transcription	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:118 , 50 per page) page: 1 2 3

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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