Variant report

Variant	esv1347923
Chromosome Location	chr4:709826-711009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:702491..704848-chr4:710046..712151,2	K562	blood:
2	chr4:698386..701329-chr4:707438..709959,2	MCF-7	breast:
3	chr4:707355..710100-chr4:713683..715798,2	MCF-7	breast:
4	chr4:706713..710070-chr4:713256..715563,3	K562	blood:
5	chr4:703233..707351-chr4:710441..713114,3	MCF-7	breast:
6	chr4:707772..710728-chr4:711927..713475,2	MCF-7	breast:
7	chr4:700678..704217-chr4:710705..714201,3	MCF-7	breast:
8	chr4:665538..669787-chr4:710811..715751,5	MCF-7	breast:
9	chr4:707515..711749-chr4:774319..777090,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169020	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000215375	chromatin interactions
ENSG00000185619	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376004448	chr4:709830-709831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs75692196	chr4:709841-709842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546899793	chr4:709857-709858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75459287	chr4:709870-709871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571138775	chr4:709877-709878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75119390	chr4:709886-709887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563809300	chr4:709899-709900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371678073	chr4:709900-709901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538668212	chr4:709907-709908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187268153	chr4:709917-709918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28703956	chr4:709921-709922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111648787	chr4:709941-709942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201089944	chr4:709942-709943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375066528	chr4:709943-709944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190199042	chr4:709953-709954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568563508	chr4:709960-709961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372335896	chr4:709964-709965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76646919	chr4:709972-709973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535949231	chr4:710003-710004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555504085	chr4:710027-710028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376357314	chr4:710029-710030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574206702	chr4:710030-710031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370063455	chr4:710048-710049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372935176	chr4:710052-710053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374805374	chr4:710066-710067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113568605	chr4:710104-710105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111637298	chr4:710111-710112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28398031	chr4:710112-710113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200387475	chr4:710118-710119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541348559	chr4:710120-710121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28420513	chr4:710128-710129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369214585	chr4:710136-710137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373113012	chr4:710162-710163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372763165	chr4:710181-710182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577958339	chr4:710184-710185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373524059	chr4:710208-710209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545340499	chr4:710255-710256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371505268	chr4:710269-710270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368342273	chr4:710296-710297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201672965	chr4:710298-710299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376480540	chr4:710314-710315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530993354	chr4:710341-710342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201784128	chr4:710342-710343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543167321	chr4:710343-710344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199682540	chr4:710348-710349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200482937	chr4:710359-710360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376308051	chr4:710362-710363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373550482	chr4:710402-710403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528322693	chr4:710406-710407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4525922	chr4:710422-710423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:701200-713400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:701200-713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:701200-714600	Weak transcription	NHDF-Ad	bronchial
4	chr4:701200-724400	Weak transcription	Aorta	Aorta
5	chr4:701400-714000	Weak transcription	HMEC	breast
6	chr4:701400-715200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:701400-724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:701400-724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:701600-716800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:702200-754800	Weak transcription	Hela-S3	cervix
11	chr4:702400-714600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:702400-720000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:702400-720200	Weak transcription	NH-A	brain
14	chr4:702600-715800	Weak transcription	Liver	Liver
15	chr4:702600-716800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:702600-724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:702800-714600	Weak transcription	Stomach Mucosa	stomach
18	chr4:702800-715000	Weak transcription	GM12878-XiMat	blood
19	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:703000-711400	Weak transcription	Fetal Heart	heart
21	chr4:703000-714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:703000-714000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:703000-716600	Weak transcription	Fetal Lung	lung
24	chr4:703400-714400	Weak transcription	Primary T cells from cord blood	blood
25	chr4:703400-714800	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:703400-717800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:703400-724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:703600-714600	Weak transcription	HUVEC	blood vessel
30	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:703800-715400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:703800-724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:704000-724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:704200-714600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:704200-715800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:704400-714400	Weak transcription	HSMM	muscle
37	chr4:704400-714600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:704400-714600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:704400-714600	Weak transcription	Right Atrium	heart
40	chr4:704400-715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:704400-721200	Weak transcription	Small Intestine	intestine
42	chr4:704400-721400	Weak transcription	A549	lung
43	chr4:704600-714200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:704800-714400	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:704800-714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:704800-714600	Weak transcription	Brain Angular Gyrus	brain
48	chr4:704800-714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:704800-724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:705000-714000	Weak transcription	Brain Inferior Temporal Lobe	brain

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