Variant report

Variant	nsv963143
Chromosome Location	chr2:7167397-7170250
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:7168490..7170213-chr2:7179643..7182255,2	K562	blood:
2	chr2:7158767..7160822-chr2:7170212..7171959,2	MCF-7	breast:
3	chr2:7158554..7160902-chr2:7167034..7169770,2	MCF-7	breast:
4	chr2:7062408..7063082-chr2:7169574..7170502,3	MCF-7	breast:
5	chr2:7057439..7057981-chr2:7169933..7170439,2	MCF-7	breast:
6	chr2:7037533..7038145-chr2:7169994..7170776,2	MCF-7	breast:
7	chr2:7162976..7165040-chr2:7166130..7169066,2	MCF-7	breast:
8	chr2:7168014..7170353-chr2:7174228..7177127,2	K562	blood:
9	chr2:7155706..7158054-chr2:7170057..7171880,2	MCF-7	breast:
10	chr2:7137807..7140160-chr2:7167317..7168870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151692	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149938835	chr2:7167406-7167407	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566696157	chr2:7167421-7167422	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78144620	chr2:7167470-7167471	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186623928	chr2:7167504-7167505	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555092303	chr2:7167557-7167558	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs365483	chr2:7167563-7167564	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191608615	chr2:7167565-7167566	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2280338	chr2:7167589-7167590	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13399190	chr2:7167604-7167605	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144993125	chr2:7167621-7167622	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72783710	chr2:7167635-7167636	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537651343	chr2:7167661-7167662	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2280337	chr2:7167791-7167792	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535415502	chr2:7167798-7167799	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2037325	chr2:7167805-7167806	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563023975	chr2:7167829-7167830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531849693	chr2:7167837-7167838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572291856	chr2:7167854-7167855	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147664854	chr2:7167892-7167893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551547216	chr2:7167917-7167918	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184879520	chr2:7167923-7167924	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376479839	chr2:7167959-7167960	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146256475	chr2:7167993-7167994	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142089752	chr2:7167997-7167998	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547444781	chr2:7168013-7168014	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199560739	chr2:7168056-7168057	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372666967	chr2:7168146-7168147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535322317	chr2:7168164-7168165	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548778599	chr2:7168190-7168191	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13393491	chr2:7168198-7168199	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146668160	chr2:7168203-7168204	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193068212	chr2:7168207-7168208	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140215602	chr2:7168242-7168243	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542594679	chr2:7168288-7168289	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72783713	chr2:7168324-7168325	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145173392	chr2:7168332-7168333	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139030150	chr2:7168336-7168337	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113870381	chr2:7168361-7168362	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574389781	chr2:7168375-7168376	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528061108	chr2:7168400-7168401	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377385519	chr2:7168410-7168411	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185057082	chr2:7168419-7168420	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528779025	chr2:7168444-7168445	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545509945	chr2:7168448-7168449	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551738403	chr2:7168488-7168489	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546714664	chr2:7168541-7168542	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565226844	chr2:7168547-7168548	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527733167	chr2:7168563-7168564	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541072811	chr2:7168649-7168650	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190296866	chr2:7168713-7168714	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:7148200-7172600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:7148800-7171400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:7151200-7185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:7152600-7192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:7154000-7183200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:7154000-7190200	Strong transcription	Dnd41	blood
8	chr2:7154600-7174800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:7154600-7184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:7155000-7171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:7155200-7182000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:7155600-7178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:7156000-7168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:7157000-7177600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:7157000-7179200	Weak transcription	Aorta	Aorta
16	chr2:7157200-7169000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:7157200-7185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:7158000-7168400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:7158200-7173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:7158200-7188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:7158400-7173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:7158400-7186800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:7158600-7173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:7159000-7181000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:7159400-7186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:7159600-7180600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:7160800-7169200	Weak transcription	Placenta	Placenta
28	chr2:7162000-7168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:7162000-7171600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:7162400-7169800	Weak transcription	Esophagus	oesophagus
31	chr2:7162800-7167400	Genic enhancers	Left Ventricle	heart
32	chr2:7162800-7171400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:7163000-7171000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:7163000-7171400	Weak transcription	Stomach Mucosa	stomach
35	chr2:7163200-7177400	Weak transcription	Fetal Brain Male	brain
36	chr2:7164000-7171200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:7164000-7171600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:7164000-7177600	Weak transcription	NHDF-Ad	bronchial
39	chr2:7164000-7178000	Weak transcription	K562	blood
40	chr2:7164200-7168800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:7164600-7167800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:7164600-7171200	Weak transcription	Fetal Intestine Large	intestine
43	chr2:7164600-7182200	Weak transcription	Small Intestine	intestine
44	chr2:7164800-7167400	Genic enhancers	Pancreas	Pancrea
45	chr2:7164800-7189000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:7165000-7167800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:7165000-7167800	Genic enhancers	Fetal Kidney	kidney
48	chr2:7165000-7169200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:7165200-7171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:7165400-7168200	Weak transcription	Brain Anterior Caudate	brain

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