Variant report

Variant	nsv934014
Chromosome Location	chr7:146212698-146400508
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
2	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
3	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
4	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
5	chr16:70557427..70557946-chr7:146244932..146245452,2	Hela-S3	cervix:
6	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
7	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
8	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
9	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
10	chr16:283786..286287-chr7:146321086..146324044,2	MCF-7	breast:
11	chr7:146253504..146256343-chr7:146261873..146263479,2	K562	blood:
12	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
13	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
14	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
15	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
16	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
17	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
18	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
19	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
20	chr7:146250194..146253829-chr7:146254649..146256608,3	K562	blood:
21	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
22	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
23	chr7:146259240..146261148-chr7:146262758..146264665,2	K562	blood:
24	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167930	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 2922 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2922 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141485365	chr7:146212717-146212718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150422571	chr7:146212750-146212751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368097974	chr7:146212762-146212763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115651481	chr7:146212777-146212778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548876369	chr7:146212794-146212795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62483358	chr7:146212803-146212804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111349172	chr7:146212805-146212806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75653086	chr7:146212806-146212807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530930063	chr7:146212888-146212889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149553077	chr7:146212906-146212907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs700290	chr7:146212933-146212934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530246761	chr7:146212951-146212952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546857402	chr7:146213003-146213004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181427470	chr7:146213011-146213012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185731979	chr7:146213031-146213032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116323263	chr7:146213036-146213037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556091447	chr7:146213087-146213088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570865653	chr7:146213097-146213098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189651207	chr7:146213102-146213103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556987703	chr7:146213103-146213104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75663837	chr7:146213131-146213132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79074833	chr7:146213134-146213135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180940199	chr7:146213161-146213162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186322312	chr7:146213198-146213199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201930671	chr7:146213229-146213230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545275778	chr7:146213245-146213246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565197892	chr7:146213276-146213277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530892233	chr7:146213279-146213280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73464782	chr7:146213280-146213281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200741901	chr7:146213304-146213305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561363063	chr7:146213391-146213392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538706363	chr7:146213432-146213433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377465858	chr7:146213464-146213465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547113375	chr7:146213473-146213474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192072096	chr7:146213553-146213554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569923192	chr7:146213576-146213577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375221782	chr7:146213579-146213580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532573205	chr7:146213583-146213584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552427162	chr7:146213603-146213604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536983791	chr7:146213604-146213605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183573866	chr7:146213608-146213609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538566525	chr7:146213609-146213610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370298318	chr7:146213636-146213637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188559573	chr7:146213720-146213721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567292485	chr7:146213796-146213797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142242724	chr7:146213798-146213799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552145662	chr7:146213805-146213806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532960560	chr7:146213915-146213916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78875514	chr7:146213920-146213921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368421722	chr7:146213933-146213934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Medulloblastoma	21163964	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146207600-146215800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:146214200-146214800	Active TSS	Fetal Heart	heart
3	chr7:146215800-146216600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:146215800-146217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:146216000-146216400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:146216000-146216600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:146216000-146216800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:146216200-146216800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:146223400-146223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
20	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:146260000-146260400	Enhancers	Fetal Kidney	kidney
25	chr7:146260200-146260800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:146262800-146263200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:146262800-146263200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:146262800-146263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:146262800-146263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:146262800-146263400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:146262800-146263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:146263000-146263400	Enhancers	Ovary	ovary
33	chr7:146279000-146279600	Enhancers	Fetal Kidney	kidney
34	chr7:146289000-146290200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:146304600-146305000	Enhancers	Stomach Mucosa	stomach
36	chr7:146316600-146317400	Enhancers	Fetal Brain Female	brain
37	chr7:146321800-146323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:146326000-146326400	Enhancers	Fetal Lung	lung
39	chr7:146330200-146331600	Enhancers	Fetal Brain Male	brain
40	chr7:146330400-146331200	Enhancers	Fetal Brain Female	brain
41	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
42	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
43	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
46	chr7:146332400-146332800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:146332400-146333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:146332400-146333200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:146332400-146333200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links