Variant report

Variant	nsv883022
Chromosome Location	chr5:148200553-148205372
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	BHLHE40	chr5:148205320-148205427	K562	blood:	n/a	n/a
2	CEBPB	chr5:148205187-148206245	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:148205316-148205622	IMR90	lung:	n/a	n/a
4	CEBPB	chr5:148204082-148204550	A549	lung:	n/a	chr5:148204252-148204263 chr5:148204251-148204268 chr5:148204493-148204510 chr5:148204253-148204264 chr5:148204252-148204263 chr5:148204252-148204265 chr5:148204252-148204265
5	CEBPB	chr5:148204161-148204406	HepG2	liver:	n/a	chr5:148204252-148204263 chr5:148204251-148204268 chr5:148204253-148204264 chr5:148204252-148204263 chr5:148204252-148204265 chr5:148204252-148204265
6	CEBPB	chr5:148204153-148204421	Hela-S3	cervix:	n/a	chr5:148204252-148204263 chr5:148204251-148204268 chr5:148204253-148204264 chr5:148204252-148204263 chr5:148204252-148204265 chr5:148204252-148204265
7	CEBPB	chr5:148203614-148203669	HepG2	liver:	n/a	chr5:148203650-148203663 chr5:148203650-148203661
8	CEBPB	chr5:148204106-148204350	K562	blood:	n/a	chr5:148204252-148204263 chr5:148204251-148204268 chr5:148204253-148204264 chr5:148204252-148204263 chr5:148204252-148204265 chr5:148204252-148204265
9	CHD2	chr5:148205257-148206306	Hela-S3	cervix:	n/a	n/a
10	CTBP2	chr5:148205312-148206726	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:148200580-148200730	HMEC	breast:	n/a	n/a
12	CTCF	chr5:148200480-148200630	HCT-116	colon:	n/a	n/a
13	CTCF	chr5:148200500-148200650	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr5:148200448-148200676	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr5:148200472-148200678	GM20000	blood:	n/a	n/a
16	CTCF	chr5:148200500-148200650	RPTEC	kidney:	n/a	n/a
17	CTCF	chr5:148205311-148205375	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:148200440-148200590	GM12865	blood:	n/a	n/a
19	CTCF	chr5:148200500-148200650	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:148200520-148200670	BE2_C	brain:	n/a	n/a
21	CTCF	chr5:148200460-148200610	NHEK	skin:	n/a	n/a
22	CTCF	chr5:148200480-148200630	BJ	skin:	n/a	n/a
23	CTCF	chr5:148200480-148200630	K562	blood:	n/a	n/a
24	CTCF	chr5:148200500-148200650	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr5:148200500-148200650	AG04449	skin:	n/a	n/a
26	CTCF	chr5:148200500-148200650	AG09309	skin:	n/a	n/a
27	CTCF	chr5:148200480-148200630	GM12870	blood:	n/a	n/a
28	CTCF	chr5:148200500-148200650	Caco-2	colon:	n/a	n/a
29	CTCF	chr5:148200480-148200630	AG09319	gingival:	n/a	n/a
30	CTCF	chr5:148200500-148200650	HVMF	connective:	n/a	n/a
31	CTCF	chr5:148200423-148200664	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr5:148200460-148200610	GM12864	blood:	n/a	n/a
33	CTCF	chr5:148200520-148200670	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr5:148200420-148200570	GM12866	blood:	n/a	n/a
35	CTCF	chr5:148200466-148200676	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:148200477-148200642	LNCaP	prostate:	n/a	n/a
37	CTCF	chr5:148201120-148201270	AG10803	skin:	n/a	n/a
38	CTCF	chr5:148200480-148200630	GM12869	blood:	n/a	n/a
39	CTCF	chr5:148200500-148200650	GM06990	blood:	n/a	n/a
40	CTCF	chr5:148200480-148200630	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr5:148200444-148200664	GM13977	blood:	n/a	n/a
42	CTCF	chr5:148201260-148201410	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr5:148200500-148200650	BJ	skin:	n/a	n/a
44	CTCF	chr5:148200520-148200670	GM12867	blood:	n/a	n/a
45	CTCF	chr5:148200429-148200681	Medullo	brain:	n/a	n/a
46	CTCF	chr5:148200500-148200650	AG09319	gingival:	n/a	n/a
47	CTCF	chr5:148200506-148200585	GM19240	blood:	n/a	n/a
48	CTCF	chr5:148200520-148200670	GM12874	blood:	n/a	n/a
49	CTCF	chr5:148200520-148200670	HEK293	kidney:	n/a	n/a
50	CTCF	chr5:148200480-148200630	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:148200300..148200818-chr5:148377879..148378457,2	MCF-7	breast:
2	chr5:148203764..148205297-chr5:148205448..148207898,2	K562	blood:
3	chr5:148199938..148200717-chr5:148336805..148337485,2	MCF-7	breast:

Variant related genes	Relation type
ADRB2	TF binding region
ENSG00000169252	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2082382	chr5:148200553-148200554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561598717	chr5:148200554-148200555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528694524	chr5:148200566-148200567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80214302	chr5:148200578-148200579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2082394	chr5:148200580-148200581	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150620053	chr5:148200581-148200582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528756226	chr5:148200591-148200592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2082395	chr5:148200600-148200601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569582868	chr5:148200606-148200607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542172258	chr5:148200609-148200610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549026936	chr5:148200618-148200619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565499075	chr5:148200640-148200641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191772894	chr5:148200646-148200647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567515805	chr5:148200653-148200654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534513855	chr5:148200663-148200664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113928274	chr5:148200672-148200673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571103129	chr5:148200724-148200725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187133530	chr5:148200744-148200745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191617819	chr5:148200750-148200751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111802258	chr5:148200766-148200767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367800286	chr5:148200812-148200813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368822538	chr5:148200816-148200817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551159345	chr5:148200840-148200841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73274666	chr5:148200892-148200893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139675451	chr5:148200910-148200911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9325119	chr5:148200927-148200928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9325120	chr5:148200958-148200959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562620226	chr5:148200960-148200961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577495867	chr5:148200994-148200995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200244969	chr5:148201001-148201002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12189018	chr5:148201005-148201006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs149768577	chr5:148201008-148201009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561946647	chr5:148201112-148201113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560721734	chr5:148201148-148201149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528412247	chr5:148201238-148201239	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182703593	chr5:148201246-148201247	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11168066	chr5:148201255-148201256	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11959615	chr5:148201316-148201317	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147649237	chr5:148201319-148201320	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140610773	chr5:148201322-148201323	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536253517	chr5:148201384-148201385	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187734773	chr5:148201393-148201394	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs144455855	chr5:148201419-148201420	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200117178	chr5:148201473-148201474	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs35875547	chr5:148201474-148201475	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11958940	chr5:148201485-148201486	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559270073	chr5:148201540-148201541	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs34064454	chr5:148201569-148201570	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544780380	chr5:148201625-148201626	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs563244794	chr5:148201662-148201663	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Basal cell lymphoma	17053054	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
Charcot-marie-tooth disease	22275255	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148186400-148205400	Weak transcription	Aorta	Aorta
2	chr5:148189000-148204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:148189000-148205200	Weak transcription	Psoas Muscle	Psoas
4	chr5:148194600-148205200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:148194600-148205200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:148195000-148205200	Weak transcription	Brain Substantia Nigra	brain
7	chr5:148195200-148205200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:148195400-148205000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:148195400-148205200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:148196600-148205200	Weak transcription	Right Atrium	heart
11	chr5:148197400-148204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:148197400-148204200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:148197600-148204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:148197600-148205400	Weak transcription	Spleen	Spleen
15	chr5:148197800-148203600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:148198000-148203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:148198600-148205200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:148199400-148201400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:148199400-148204400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:148199400-148204600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:148199800-148202000	Enhancers	Primary B cells from cord blood	blood
22	chr5:148200200-148203200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:148200200-148205200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:148200400-148204200	Weak transcription	NHDF-Ad	bronchial
25	chr5:148201400-148201600	Enhancers	Fetal Brain Female	brain
26	chr5:148201400-148201800	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:148201800-148204200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:148202000-148203400	Weak transcription	Primary B cells from cord blood	blood
29	chr5:148202600-148202800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:148202600-148204800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:148203200-148205200	Weak transcription	Fetal Stomach	stomach
32	chr5:148203200-148206000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:148203400-148203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:148203400-148205000	Enhancers	Primary B cells from cord blood	blood
35	chr5:148203600-148205200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:148203800-148204600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:148203800-148204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:148204200-148204400	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:148204200-148204400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:148204200-148204400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:148204200-148204400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:148204200-148204400	Enhancers	Fetal Muscle Trunk	muscle
43	chr5:148204200-148204400	Enhancers	Gastric	stomach
44	chr5:148204200-148204400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:148204200-148204800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:148204200-148205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:148204200-148205000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr5:148204200-148205000	Enhancers	Hela-S3	cervix
49	chr5:148204200-148205200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:148204200-148205200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links