Variant report

Variant	nsv969268
Chromosome Location	chr5:96317607-96327820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:96318795-96319115	GM12878	blood:	n/a	n/a
2	CTCF	chr5:96319768-96319796	GM12878	blood:	n/a	n/a
3	CTCF	chr5:96318866-96319066	K562	blood:	n/a	n/a
4	CTCF	chr5:96326320-96326470	GM12866	blood:	n/a	n/a
5	CTCF	chr5:96319201-96319287	GM20000	blood:	n/a	n/a
6	CTCF	chr5:96318946-96318978	GM10248	blood:	n/a	n/a
7	CTCF	chr5:96318952-96318966	Spleen_OC	spleen:	n/a	n/a
8	E2F4	chr5:96320857-96321003	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA2	chr5:96320628-96320854	HepG2	liver:	n/a	chr5:96320769-96320781
10	MAFF	chr5:96322341-96322626	HepG2	liver:	n/a	n/a
11	MAFF	chr5:96320768-96320936	K562	blood:	n/a	n/a
12	MAFK	chr5:96320692-96320975	HepG2	liver:	n/a	n/a
13	MAFK	chr5:96320707-96320978	HepG2	liver:	n/a	n/a
14	MAFK	chr5:96322362-96322674	HepG2	liver:	n/a	n/a
15	MAFK	chr5:96322389-96322582	HepG2	liver:	n/a	n/a
16	MXI1	chr5:96323134-96323322	K562	blood:	n/a	n/a
17	POLR2A	chr5:96321563-96321754	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:96321581-96321757	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:96317584-96317773	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:96323532-96323563	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:96320749-96320790	GM12878	blood:	n/a	n/a
22	SMC3	chr5:96318829-96319029	GM12878	blood:	n/a	n/a
23	TBL1XR1	chr5:96320498-96320563	K562	blood:	n/a	n/a
24	USF2	chr5:96321562-96321639	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96323172..96325387-chr5:96328934..96331521,2	K562	blood:
2	chr5:96269233..96272030-chr5:96318057..96319650,2	MCF-7	breast:
3	chr5:96318317..96320679-chr5:96324644..96327086,2	K562	blood:
4	chr5:96269934..96271654-chr5:96327794..96329402,2	MCF-7	breast:
5	chr5:96311603..96314325-chr5:96315419..96317692,2	K562	blood:
6	chr5:96318317..96320679-chr5:96324644..96327086,2	K562	blood:
7	chr5:96269269..96275353-chr5:96319693..96327052,9	MCF-7	breast:
8	chr5:96303050..96305994-chr5:96318731..96320478,2	K562	blood:

No data

Variant related genes	Relation type
LNPEP	TF binding region
ENSG00000247121	chromatin interactions
ENSG00000113441	chromatin interactions

Extended variants
information (count: 405 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:405 , 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	rs532173447	chr5:96317640-96317641	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570429698	chr5:96317643-96317644	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182179450	chr5:96317722-96317723	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562096509	chr5:96317738-96317739	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529761213	chr5:96317845-96317846	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547844833	chr5:96317926-96317927	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186746371	chr5:96317927-96317928	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377650993	chr5:96317962-96317963	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527471416	chr5:96317978-96317979	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552489672	chr5:96318014-96318015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144518041	chr5:96318045-96318046	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538094325	chr5:96318051-96318052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191613790	chr5:96318062-96318063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182412612	chr5:96318068-96318069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534317462	chr5:96318070-96318071	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115508683	chr5:96318128-96318129	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2161548	chr5:96318145-96318146	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs552602627	chr5:96318167-96318168	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115687285	chr5:96318182-96318183	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558290536	chr5:96318218-96318219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35113040	chr5:96318224-96318225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146648294	chr5:96318238-96318239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141427017	chr5:96318259-96318260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562160178	chr5:96318262-96318263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143831381	chr5:96318271-96318272	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541552110	chr5:96318332-96318333	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188068346	chr5:96318351-96318352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527519633	chr5:96318355-96318356	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148638730	chr5:96318386-96318387	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551900811	chr5:96318453-96318454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115326922	chr5:96318460-96318461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs537427418	chr5:96318524-96318525	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193012110	chr5:96318555-96318556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531657188	chr5:96318598-96318599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185198773	chr5:96318609-96318610	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568497217	chr5:96318614-96318615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535848698	chr5:96318626-96318627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547912888	chr5:96318650-96318651	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566050807	chr5:96318662-96318663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190590381	chr5:96318671-96318672	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139077033	chr5:96318677-96318678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528420466	chr5:96318682-96318683	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373166885	chr5:96318721-96318722	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576195402	chr5:96318736-96318737	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs546496741	chr5:96318761-96318762	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192680350	chr5:96318766-96318767	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555617049	chr5:96318773-96318774	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112892445	chr5:96318787-96318788	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567574161	chr5:96318801-96318802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536513986	chr5:96318838-96318839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
2	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
3	chr5:96304800-96346600	Weak transcription	Lung	lung
4	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
5	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:96313200-96325400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96313200-96330000	Weak transcription	HSMMtube	muscle
8	chr5:96313400-96317800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:96313600-96317800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:96314000-96318000	Strong transcription	Primary T cells from cord blood	blood
13	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
14	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
16	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
17	chr5:96314400-96318000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:96314400-96318000	Strong transcription	Fetal Intestine Large	intestine
19	chr5:96314400-96319200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:96314400-96319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:96314400-96343800	Strong transcription	Dnd41	blood
22	chr5:96314600-96318200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:96314600-96319000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:96314800-96317800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:96314800-96318200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:96314800-96319800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:96315000-96317800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:96315000-96318000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:96315000-96318000	Strong transcription	Adipose Nuclei	Adipose
32	chr5:96315000-96318000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:96315000-96318200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:96315000-96318400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
36	chr5:96315400-96320800	Weak transcription	Small Intestine	intestine
37	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:96315600-96318400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:96315600-96319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:96315600-96320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:96315600-96320200	Weak transcription	Fetal Intestine Small	intestine
42	chr5:96315600-96320600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:96315600-96320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:96315600-96321400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:96315600-96321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:96315600-96321400	Weak transcription	Aorta	Aorta
47	chr5:96315600-96321400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:96315600-96321400	Weak transcription	Fetal Stomach	stomach
49	chr5:96315600-96321400	Weak transcription	Gastric	stomach
50	chr5:96315600-96321400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links