Variant report

Variant	nsv877682
Chromosome Location	chr3:156019961-156077514
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156063000..156066364-chr3:156067532..156070901,4	K562	blood:
2	chr3:156026382..156029375-chr3:156031485..156033087,2	K562	blood:
3	chr3:156017399..156019270-chr3:156022267..156024641,2	K562	blood:
4	chr3:156007615..156009116-chr3:156024508..156027118,2	MCF-7	breast:
5	chr3:156060114..156062133-chr3:156063851..156066009,3	K562	blood:
6	chr3:156050570..156052505-chr3:156062624..156065226,2	K562	blood:
7	chr3:156026382..156029375-chr3:156031485..156033087,2	K562	blood:
8	chr3:156068154..156070454-chr3:156076598..156078421,2	K562	blood:
9	chr3:155708861..155710769-chr3:156048938..156050651,2	MCF-7	breast:
10	chr3:156047990..156050685-chr3:156054914..156056827,2	K562	blood:
11	chr3:156044883..156046704-chr3:156055799..156058263,2	K562	blood:
12	chr3:156044883..156046704-chr3:156055799..156058263,2	K562	blood:
13	chr3:156063000..156066364-chr3:156067532..156070901,4	K562	blood:
14	chr3:156037539..156041567-chr3:156043412..156048047,6	K562	blood:
15	chr3:156064694..156066364-chr3:156069401..156071214,2	K562	blood:
16	chr3:156047457..156049011-chr3:156064296..156066082,2	K562	blood:
17	chr3:156047457..156049011-chr3:156064296..156066082,2	K562	blood:
18	chr3:156050570..156052505-chr3:156062624..156065226,2	K562	blood:
19	chr3:156025571..156028067-chr3:156028592..156030728,2	MCF-7	breast:
20	chr3:156064694..156066364-chr3:156069401..156071214,2	K562	blood:
21	chr3:156068154..156070454-chr3:156076598..156078421,2	K562	blood:
22	chr3:156025571..156028067-chr3:156028592..156030728,2	MCF-7	breast:
23	chr3:156047990..156050685-chr3:156054914..156056827,2	K562	blood:
24	chr3:156037539..156041567-chr3:156043412..156048047,6	K562	blood:
25	chr3:156060114..156062133-chr3:156063851..156066009,3	K562	blood:
26	chr3:156075207..156077071-chr3:156101345..156103192,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169282	chromatin interactions

Extended variants
information (count: 1745 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1745 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9844584	chr3:156019961-156019962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143486089	chr3:156019965-156019966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549781026	chr3:156019991-156019992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369232835	chr3:156020016-156020017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193039152	chr3:156020020-156020021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146747106	chr3:156020022-156020023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183071782	chr3:156020054-156020055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547575649	chr3:156020067-156020068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565942459	chr3:156020111-156020112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536319869	chr3:156020150-156020151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554660417	chr3:156020175-156020176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186995833	chr3:156020192-156020193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35501445	chr3:156020210-156020211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537031682	chr3:156020256-156020257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148827951	chr3:156020285-156020286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143437623	chr3:156020386-156020387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545299553	chr3:156020391-156020392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569538329	chr3:156020430-156020431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369958222	chr3:156020432-156020433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559402510	chr3:156020453-156020454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115947235	chr3:156020467-156020468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148015206	chr3:156020513-156020514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577327357	chr3:156020514-156020515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560946860	chr3:156020520-156020521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34926836	chr3:156020539-156020540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531463256	chr3:156020654-156020655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549506519	chr3:156020712-156020713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564935491	chr3:156020730-156020731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532654900	chr3:156020739-156020740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374427402	chr3:156020806-156020807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547707407	chr3:156020855-156020856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565901258	chr3:156020873-156020874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536434954	chr3:156020874-156020875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146856269	chr3:156020899-156020900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570050745	chr3:156020914-156020915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537593962	chr3:156020948-156020949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191941597	chr3:156021061-156021062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538177210	chr3:156021065-156021066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183748910	chr3:156021070-156021071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538905423	chr3:156021124-156021125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189604054	chr3:156021199-156021200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554121551	chr3:156021219-156021220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193063637	chr3:156021266-156021267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572402635	chr3:156021305-156021306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185582256	chr3:156021337-156021338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554793924	chr3:156021404-156021405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190456543	chr3:156021476-156021477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3772228	chr3:156021489-156021490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564679834	chr3:156021492-156021493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545579238	chr3:156021510-156021511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156010000-156024000	Weak transcription	Aorta	Aorta
2	chr3:156010000-156025400	Weak transcription	Pancreas	Pancrea
3	chr3:156015800-156021600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:156016200-156020600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:156017200-156020800	Weak transcription	Left Ventricle	heart
6	chr3:156017400-156020800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:156017800-156020800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:156018000-156021200	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:156018400-156021200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:156018600-156022200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:156019400-156021200	Weak transcription	Brain Anterior Caudate	brain
12	chr3:156019400-156021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:156019600-156020000	Enhancers	Fetal Lung	lung
14	chr3:156019600-156020800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:156019600-156021000	Weak transcription	HUVEC	blood vessel
16	chr3:156019600-156021200	Weak transcription	Hela-S3	cervix
17	chr3:156019600-156021200	Weak transcription	NHDF-Ad	bronchial
18	chr3:156019600-156021400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:156019600-156021600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:156019600-156021600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr3:156019600-156022600	Enhancers	Adipose Nuclei	Adipose
22	chr3:156019600-156022800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:156019800-156020000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:156019800-156020800	Weak transcription	NHLF	lung
25	chr3:156019800-156021400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:156019800-156022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:156019800-156022000	Weak transcription	Osteobl	bone
28	chr3:156019800-156022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:156020000-156021200	Weak transcription	Fetal Lung	lung
30	chr3:156020000-156021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:156020600-156020800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:156020600-156021400	Enhancers	Stomach Mucosa	stomach
33	chr3:156020600-156022600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:156020800-156021000	Enhancers	Left Ventricle	heart
35	chr3:156020800-156021600	Enhancers	Brain Substantia Nigra	brain
36	chr3:156020800-156021800	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:156020800-156021800	Enhancers	Brain Hippocampus Middle	brain
38	chr3:156020800-156023200	Enhancers	NHLF	lung
39	chr3:156021000-156024000	Enhancers	HUVEC	blood vessel
40	chr3:156021000-156024400	Weak transcription	Left Ventricle	heart
41	chr3:156021200-156021400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:156021200-156021400	Enhancers	Fetal Muscle Leg	muscle
43	chr3:156021200-156021800	Enhancers	Brain Angular Gyrus	brain
44	chr3:156021200-156022800	Enhancers	Brain Anterior Caudate	brain
45	chr3:156021200-156022800	Enhancers	Hela-S3	cervix
46	chr3:156021200-156023000	Enhancers	NHDF-Ad	bronchial
47	chr3:156021400-156021600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:156021400-156021600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:156021400-156021600	Enhancers	Right Ventricle	heart
50	chr3:156021400-156021800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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