Variant report

Variant	nsv969985
Chromosome Location	chr5:151817505-151821787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:151817422-151817834	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr5:151817511-151817657	H1-hESC	embryonic stem cell:	n/a	n/a
3	HDAC2	chr5:151817441-151817775	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr5:151817466-151817769	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:151819445-151819717	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr5:151818069-151818155	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:151819383-151819776	H1-neurons	neurons:	n/a	n/a
8	SP1	chr5:151817432-151817783	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr5:151817508-151817801	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr5:151817486-151817879	H1-hESC	embryonic stem cell:	n/a	chr5:151817628-151817637
11	YY1	chr5:151817410-151817730	H1-hESC	embryonic stem cell:	n/a	chr5:151817628-151817637

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151811992..151815220-chr5:151816698..151819608,3	K562	blood:
2	chr5:151812372..151815220-chr5:151816698..151819117,2	K562	blood:

Variant related genes	Relation type
NMUR2	TF binding region
ENSG00000132911	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193265237	chr5:151817580-151817581	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139807316	chr5:151817609-151817610	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141579276	chr5:151817614-151817615	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146206229	chr5:151817657-151817658	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148438208	chr5:151817671-151817672	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535585084	chr5:151817678-151817679	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184130518	chr5:151817717-151817718	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187961293	chr5:151817720-151817721	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536135855	chr5:151817734-151817735	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539797867	chr5:151817774-151817775	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142574780	chr5:151817786-151817787	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576824592	chr5:151817866-151817867	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78670919	chr5:151817893-151817894	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111539171	chr5:151817898-151817899	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373797489	chr5:151817910-151817911	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555094358	chr5:151817972-151817973	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553031592	chr5:151817973-151817974	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574244610	chr5:151818032-151818033	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573099802	chr5:151818039-151818040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs114155760	chr5:151818141-151818142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372684008	chr5:151818176-151818177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538211389	chr5:151818198-151818199	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192591806	chr5:151818262-151818263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201161330	chr5:151818316-151818317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139575075	chr5:151818318-151818319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73800409	chr5:151818328-151818329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532885588	chr5:151818376-151818377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530715457	chr5:151818404-151818405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199506561	chr5:151818406-151818407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184108674	chr5:151818430-151818431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573545499	chr5:151818436-151818437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560787074	chr5:151818474-151818475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558547005	chr5:151818560-151818561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547601828	chr5:151818771-151818772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188791593	chr5:151818790-151818791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541116067	chr5:151818791-151818792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376260171	chr5:151818799-151818800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551822656	chr5:151818824-151818825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78657352	chr5:151818894-151818895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537750400	chr5:151818939-151818940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181591064	chr5:151818997-151818998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184693388	chr5:151819057-151819058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535200704	chr5:151819082-151819083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73800410	chr5:151819133-151819134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577688298	chr5:151819137-151819138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544655566	chr5:151819139-151819140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562951674	chr5:151819140-151819141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574882426	chr5:151819141-151819142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116708595	chr5:151819151-151819152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147863152	chr5:151819162-151819163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151810800-151819000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:151816200-151818600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:151816400-151818800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:151817000-151817600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:151817000-151818200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:151817000-151818200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:151817200-151818200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:151817600-151818000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:151817600-151818000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:151817600-151818000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:151817600-151818200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:151817600-151818200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:151817600-151818200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:151818000-151818200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:151818000-151819200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:151818000-151819200	Enhancers	Brain Substantia Nigra	brain
17	chr5:151818200-151822000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:151818200-151822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:151818200-151824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:151818600-151819400	Enhancers	Brain Angular Gyrus	brain
21	chr5:151818600-151819600	Enhancers	Brain Hippocampus Middle	brain
22	chr5:151818600-151819600	Enhancers	Fetal Intestine Small	intestine
23	chr5:151818800-151820400	Enhancers	Fetal Intestine Large	intestine
24	chr5:151819000-151819200	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:151819000-151819400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:151819200-151819400	Enhancers	Brain Anterior Caudate	brain
27	chr5:151819200-151819400	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr5:151819200-151819600	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:151819200-151819800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:151819400-151819800	Active TSS	Brain Substantia Nigra	brain

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