Variant report

Variant	nsv1031815
Chromosome Location	chr4:149172485-149282928
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:149205433..149206356-chr4:149335966..149337295,4	MCF-7	breast:
2	chr4:149213309..149216201-chr4:149362737..149365342,2	MCF-7	breast:
3	chr4:149205489..149206358-chr4:149952203..149952753,2	MCF-7	breast:
4	chr4:149205446..149206306-chr4:149625053..149625721,2	MCF-7	breast:
5	chr4:149225536..149228131-chr4:149228809..149230483,2	K562	blood:
6	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
7	chr4:149172838..149174684-chr4:149174942..149176809,2	MCF-7	breast:
8	chr13:30016415..30017304-chr4:149180660..149181226,2	MCF-7	breast:
9	chr4:149205477..149206318-chr4:149336392..149337741,3	MCF-7	breast:
10	chr4:149225536..149228131-chr4:149228809..149230483,2	K562	blood:
11	chr4:149172838..149174684-chr4:149174942..149176809,2	MCF-7	breast:
12	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151623	chromatin interactions

Extended variants
information (count: 4283 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4283 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72655214	chr4:149172541-149172542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72655215	chr4:149172547-149172548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556350495	chr4:149172548-149172549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573507093	chr4:149172561-149172562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72655216	chr4:149172588-149172589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61758931	chr4:149172599-149172600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72655217	chr4:149172600-149172601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72655218	chr4:149172602-149172603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72655219	chr4:149172611-149172612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61760289	chr4:149172631-149172632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554501538	chr4:149172632-149172633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574457481	chr4:149172704-149172705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17581311	chr4:149172707-149172708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72655220	chr4:149172716-149172717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72655221	chr4:149172758-149172759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72655222	chr4:149172777-149172778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72655223	chr4:149172783-149172784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185795833	chr4:149172838-149172839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559400787	chr4:149172865-149172866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61760290	chr4:149172923-149172924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72655224	chr4:149172939-149172940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs72655225	chr4:149172976-149172977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547480259	chr4:149172977-149172978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61760291	chr4:149173044-149173045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72655226	chr4:149173069-149173070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183136699	chr4:149173078-149173079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187922743	chr4:149173126-149173127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528620480	chr4:149173132-149173133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569944844	chr4:149173160-149173161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141446210	chr4:149173235-149173236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190617443	chr4:149173245-149173246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566266944	chr4:149173281-149173282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535282812	chr4:149173372-149173373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554308432	chr4:149173402-149173403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3857081	chr4:149173426-149173427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574369297	chr4:149173432-149173433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17024516	chr4:149173440-149173441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557075339	chr4:149173449-149173450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576976711	chr4:149173461-149173462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546040132	chr4:149173473-149173474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145278124	chr4:149173519-149173520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528387411	chr4:149173535-149173536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115136491	chr4:149173611-149173612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3846322	chr4:149173629-149173630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113996372	chr4:149173675-149173676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183286568	chr4:149173842-149173843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569830503	chr4:149173869-149173870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532441746	chr4:149174000-149174001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188141491	chr4:149174023-149174024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566253443	chr4:149174131-149174132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149156400-149172600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr4:149160800-149179800	Weak transcription	Psoas Muscle	Psoas
3	chr4:149166600-149174400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:149169800-149175200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:149170400-149175400	Weak transcription	HUVEC	blood vessel
6	chr4:149171000-149183600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:149171200-149175200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:149171200-149178800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:149172000-149172600	Enhancers	Left Ventricle	heart
10	chr4:149172000-149172600	Enhancers	Right Atrium	heart
11	chr4:149172000-149179400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:149172200-149173000	Weak transcription	Right Ventricle	heart
13	chr4:149172400-149173200	Enhancers	Pancreas	Pancrea
14	chr4:149172400-149174200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:149172400-149175200	Weak transcription	Ovary	ovary
16	chr4:149172600-149172800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:149172600-149174200	Weak transcription	Left Ventricle	heart
18	chr4:149172600-149174200	Weak transcription	Right Atrium	heart
19	chr4:149173000-149175800	Enhancers	Right Ventricle	heart
20	chr4:149173200-149174200	Weak transcription	Pancreas	Pancrea
21	chr4:149173200-149176200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:149173600-149176600	Weak transcription	Fetal Kidney	kidney
23	chr4:149174200-149174400	Enhancers	Left Ventricle	heart
24	chr4:149174200-149174400	Enhancers	Pancreas	Pancrea
25	chr4:149174200-149174400	Enhancers	Right Atrium	heart
26	chr4:149174200-149174400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:149174400-149174800	Weak transcription	Left Ventricle	heart
28	chr4:149174400-149174800	Weak transcription	Pancreas	Pancrea
29	chr4:149174400-149174800	Weak transcription	Right Atrium	heart
30	chr4:149174400-149175000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:149174400-149175600	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:149174400-149176800	Enhancers	Liver	Liver
33	chr4:149174400-149176800	Enhancers	Stomach Mucosa	stomach
34	chr4:149174800-149175800	Enhancers	Right Atrium	heart
35	chr4:149174800-149176400	Enhancers	Fetal Intestine Small	intestine
36	chr4:149174800-149176400	Enhancers	Left Ventricle	heart
37	chr4:149174800-149176400	Enhancers	Pancreas	Pancrea
38	chr4:149175000-149175600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr4:149175200-149175400	Enhancers	Ovary	ovary
40	chr4:149175200-149175400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:149175200-149175600	Enhancers	Gastric	stomach
42	chr4:149175200-149175800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr4:149175200-149176400	Enhancers	Fetal Intestine Large	intestine
44	chr4:149175200-149177200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr4:149175200-149179600	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:149175400-149175600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:149175400-149175800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr4:149175400-149176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:149175400-149176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:149175400-149177400	Enhancers	HUVEC	blood vessel

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