Variant report

Variant	esv14416
Chromosome Location	chr3:155479247-155512774
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155512413..155514015-chr3:155523541..155525192,2	K562	blood:
2	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
3	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
4	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:
5	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
6	chr3:155495389..155497965-chr3:155522440..155525214,2	MCF-7	breast:
7	chr3:155508129..155511910-chr3:155589025..155592150,5	K562	blood:
8	chr3:155491839..155493601-chr3:155495108..155496890,2	K562	blood:
9	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:
10	chr3:155481429..155485286-chr3:155486373..155491702,5	K562	blood:
11	chr3:155483233..155486124-chr3:155587848..155589390,2	MCF-7	breast:
12	chr3:155462546..155464118-chr3:155507587..155510459,2	MCF-7	breast:
13	chr3:155488449..155490862-chr3:155570678..155572291,2	MCF-7	breast:
14	chr3:155491831..155494360-chr3:155588180..155590433,3	K562	blood:
15	chr3:155480147..155483683-chr3:155487368..155490043,3	K562	blood:
16	chr3:155489353..155491545-chr3:155498387..155500105,2	MCF-7	breast:
17	chr3:155508855..155510377-chr3:155571116..155573552,2	K562	blood:
18	chr3:155479593..155481988-chr3:155483221..155485642,3	K562	blood:
19	chr3:155491839..155493601-chr3:155495108..155496890,2	K562	blood:
20	chr3:155489809..155491892-chr3:155496902..155499266,2	K562	blood:
21	chr3:155371134..155373846-chr3:155480180..155482982,2	K562	blood:
22	chr3:155477418..155480054-chr3:155586699..155588871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169359	chromatin interactions
ENSG00000114805	chromatin interactions
ENSG00000174928	chromatin interactions
ENSG00000163655	chromatin interactions

Extended variants
information (count: 1311 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560031165	chr3:155479257-155479258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111365400	chr3:155479260-155479261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549195670	chr3:155479261-155479262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567493524	chr3:155479267-155479268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531901001	chr3:155479304-155479305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550018834	chr3:155479305-155479306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189459925	chr3:155479321-155479322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs392068	chr3:155479323-155479324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181515190	chr3:155479355-155479356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141981455	chr3:155479366-155479367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376751010	chr3:155479367-155479368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185357447	chr3:155479436-155479437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189671627	chr3:155479479-155479480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368515869	chr3:155479538-155479539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538141279	chr3:155479617-155479618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556231634	chr3:155479620-155479621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368192524	chr3:155479623-155479624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75709779	chr3:155479713-155479714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74758119	chr3:155479723-155479724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562521218	chr3:155479724-155479725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562593269	chr3:155479737-155479738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78118040	chr3:155479743-155479744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370995632	chr3:155479794-155479795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111732015	chr3:155479808-155479809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138730801	chr3:155479870-155479871	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148847604	chr3:155479913-155479914	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529705782	chr3:155479915-155479916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536967079	chr3:155479940-155479941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553557061	chr3:155479943-155479944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531741104	chr3:155479960-155479961	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143788468	chr3:155479978-155479979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113111689	chr3:155479982-155479983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565479097	chr3:155479993-155479994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148136615	chr3:155480000-155480001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374652830	chr3:155480011-155480012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377455108	chr3:155480056-155480057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141927965	chr3:155480086-155480087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181303787	chr3:155480091-155480092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570160182	chr3:155480092-155480093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538079691	chr3:155480093-155480094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556308903	chr3:155480094-155480095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113974115	chr3:155480098-155480099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538899807	chr3:155480099-155480100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114877105	chr3:155480160-155480161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185942410	chr3:155480166-155480167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13069106	chr3:155480174-155480175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55814827	chr3:155480191-155480192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542320135	chr3:155480201-155480202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531707426	chr3:155480202-155480203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560693668	chr3:155480225-155480226	Weak transcription Strong 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155463800-155487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:155463800-155501200	Weak transcription	Aorta	Aorta
3	chr3:155464200-155487600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:155464200-155487600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:155464200-155487800	Weak transcription	Adipose Nuclei	Adipose
6	chr3:155464200-155487800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:155464200-155487800	Weak transcription	Pancreas	Pancrea
8	chr3:155464200-155489600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:155464200-155490600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:155464600-155487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:155466400-155484600	Weak transcription	Fetal Brain Male	brain
12	chr3:155467000-155487200	Weak transcription	Fetal Brain Female	brain
13	chr3:155467200-155479400	Weak transcription	Fetal Intestine Small	intestine
14	chr3:155467200-155500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:155467200-155508000	Weak transcription	K562	blood
16	chr3:155467200-155508800	Weak transcription	Hela-S3	cervix
17	chr3:155467400-155481600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:155467400-155508400	Weak transcription	HepG2	liver
19	chr3:155468000-155487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:155469400-155481600	Weak transcription	Liver	Liver
21	chr3:155470200-155483000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:155470400-155487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:155470400-155487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:155470800-155487400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:155471000-155481400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:155471000-155487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:155471000-155487800	Weak transcription	Right Ventricle	heart
28	chr3:155471200-155487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:155471400-155509000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:155471800-155487600	Weak transcription	Brain Angular Gyrus	brain
31	chr3:155472200-155487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:155472400-155487200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:155472800-155488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:155472800-155500000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:155473200-155487400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:155473200-155487400	Weak transcription	Thymus	Thymus
37	chr3:155474200-155487600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:155474200-155487800	Weak transcription	Spleen	Spleen
39	chr3:155474200-155490600	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:155474200-155497600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:155474400-155492000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr3:155474800-155487400	Weak transcription	Dnd41	blood
43	chr3:155474800-155487800	Weak transcription	Primary T cells from cord blood	blood
44	chr3:155474800-155489000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:155475200-155491000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:155475200-155492200	Weak transcription	Fetal Kidney	kidney
47	chr3:155476400-155487400	Weak transcription	Left Ventricle	heart
48	chr3:155476400-155487800	Weak transcription	Fetal Stomach	stomach
49	chr3:155476600-155480000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:155476600-155500000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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