Variant report

Variant	nsv822291
Chromosome Location	chr3:150143146-150148557
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
2	chr3:150146603..150148392-chr3:150150774..150152594,2	MCF-7	breast:
3	chr3:150145113..150147525-chr3:150161177..150163956,3	MCF-7	breast:
4	chr3:150148239..150149785-chr3:150183660..150186457,2	K562	blood:
5	chr3:149941133..149943746-chr3:150142925..150144985,2	MCF-7	breast:
6	chr3:150146891..150148422-chr3:150153050..150155459,2	MCF-7	breast:
7	chr3:150143267..150145656-chr3:150195329..150196876,2	K562	blood:
8	chr3:150142168..150144160-chr3:150198576..150200968,2	K562	blood:
9	chr3:150144742..150146773-chr3:150154309..150156409,2	MCF-7	breast:
10	chr17:56734864..56737046-chr3:150142134..150144819,2	MCF-7	breast:
11	chr3:149628108..149630690-chr3:150147298..150149080,2	K562	blood:
12	chr3:150093624..150096109-chr3:150142914..150145659,2	K562	blood:
13	chr3:150146836..150150944-chr3:150211993..150216271,5	K562	blood:
14	chr3:150145104..150146653-chr3:150150414..150151965,2	MCF-7	breast:
15	chr3:150138486..150140659-chr3:150145400..150147517,2	MCF-7	breast:
16	chr3:150142988..150145486-chr3:150212475..150215228,2	MCF-7	breast:
17	chr3:150146418..150149679-chr3:150264097..150266286,3	K562	blood:
18	chr3:150138598..150140801-chr3:150147562..150149502,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120742	chromatin interactions
ENSG00000241048	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000082996	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:197 , 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	rs186369385	chr3:150143157-150143158	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531691163	chr3:150143166-150143167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191677954	chr3:150143234-150143235	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113383732	chr3:150143264-150143265	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556320491	chr3:150143285-150143286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376238597	chr3:150143290-150143291	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140720065	chr3:150143293-150143294	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183517939	chr3:150143309-150143310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536468838	chr3:150143323-150143324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553670328	chr3:150143348-150143349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs73007757	chr3:150143383-150143384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544998935	chr3:150143400-150143401	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs558632375	chr3:150143422-150143423	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370715552	chr3:150143464-150143465	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149655457	chr3:150143503-150143504	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560821568	chr3:150143527-150143528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188943901	chr3:150143575-150143576	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369543126	chr3:150143625-150143626	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs13091237	chr3:150143677-150143678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532298165	chr3:150143694-150143695	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs193059554	chr3:150143700-150143701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567390836	chr3:150143721-150143722	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183524664	chr3:150143781-150143782	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367990399	chr3:150143805-150143806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571269150	chr3:150143816-150143817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534814122	chr3:150143829-150143830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553021418	chr3:150143868-150143869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186762318	chr3:150143931-150143932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551026215	chr3:150143947-150143948	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373008603	chr3:150143962-150143963	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58823268	chr3:150144016-150144017	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76789803	chr3:150144042-150144043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11328786	chr3:150144071-150144072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397813238	chr3:150144072-150144073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547244596	chr3:150144077-150144078	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111634453	chr3:150144083-150144084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567167618	chr3:150144096-150144097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116793040	chr3:150144149-150144150	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60875454	chr3:150144198-150144199	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575130233	chr3:150144231-150144232	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556786872	chr3:150144261-150144262	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113688346	chr3:150144291-150144292	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554613694	chr3:150144294-150144295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191434954	chr3:150144344-150144345	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11928948	chr3:150144387-150144388	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556971314	chr3:150144392-150144393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575418990	chr3:150144393-150144394	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559958067	chr3:150144404-150144405	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553851124	chr3:150144470-150144471	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576640212	chr3:150144499-150144500	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
8	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
10	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
17	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:150134000-150143800	Weak transcription	Aorta	Aorta
19	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
22	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
23	chr3:150134600-150174800	Weak transcription	Dnd41	blood
24	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:150135600-150145600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:150136000-150144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:150136000-150145800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:150136200-150146000	Weak transcription	Psoas Muscle	Psoas
30	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
31	chr3:150136400-150148000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:150136600-150144000	Weak transcription	Primary B cells from cord blood	blood
33	chr3:150137200-150176200	Weak transcription	HepG2	liver
34	chr3:150137600-150148000	Weak transcription	Hela-S3	cervix
35	chr3:150138000-150151200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:150138000-150151200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:150138000-150159400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:150138200-150143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:150138200-150144200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:150138200-150157400	Weak transcription	HSMMtube	muscle
41	chr3:150138200-150159400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:150138400-150146000	Weak transcription	Liver	Liver
43	chr3:150139400-150146000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:150139800-150144000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:150139800-150148000	Weak transcription	Fetal Intestine Large	intestine
46	chr3:150140000-150143800	Weak transcription	Adipose Nuclei	Adipose
47	chr3:150140000-150145000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:150140000-150145600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:150140000-150146000	Weak transcription	Small Intestine	intestine
50	chr3:150140000-150146800	Weak transcription	Placenta Amnion	Placenta Amnion

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