Variant report

Variant	esv10213
Chromosome Location	chr4:708453-711488
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:707355..710100-chr4:713683..715798,2	MCF-7	breast:
2	chr4:706713..710070-chr4:713256..715563,3	K562	blood:
3	chr4:700678..704217-chr4:710705..714201,3	MCF-7	breast:
4	chr4:699619..702154-chr4:706757..708745,3	MCF-7	breast:
5	chr4:665538..669787-chr4:710811..715751,5	MCF-7	breast:
6	chr4:708083..709777-chr4:723545..725767,2	K562	blood:
7	chr4:703233..707351-chr4:710441..713114,3	MCF-7	breast:
8	chr4:707515..711749-chr4:774319..777090,3	MCF-7	breast:
9	chr4:707339..709378-chr4:720320..722157,2	MCF-7	breast:
10	chr4:698386..701329-chr4:707438..709959,2	MCF-7	breast:
11	chr4:707772..710728-chr4:711927..713475,2	MCF-7	breast:
12	chr4:701026..702736-chr4:705955..708606,2	K562	blood:
13	chr4:702491..704848-chr4:710046..712151,2	K562	blood:

No data

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

Extended variants
information (count: 244 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573672652	chr4:708468-708469	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367707748	chr4:708501-708502	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534652619	chr4:708515-708516	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181355902	chr4:708523-708524	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552936754	chr4:708541-708542	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567092960	chr4:708545-708546	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs147362792	chr4:708566-708567	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564494308	chr4:708642-708643	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185928914	chr4:708697-708698	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543691375	chr4:708724-708725	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562082077	chr4:708739-708740	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529244137	chr4:708740-708741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113283633	chr4:708753-708754	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547425633	chr4:708769-708770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549589361	chr4:708777-708778	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201532591	chr4:708781-708782	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs55756427	chr4:708805-708806	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377491460	chr4:708807-708808	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs56188607	chr4:708808-708809	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369560645	chr4:708828-708829	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35557180	chr4:708844-708845	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs55863206	chr4:708861-708862	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558483951	chr4:708863-708864	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186145454	chr4:708867-708868	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559704321	chr4:708868-708869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149647416	chr4:708871-708872	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
27	rs34363645	chr4:708887-708888	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs35834462	chr4:708891-708892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368602360	chr4:708893-708894	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369865516	chr4:708912-708913	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34103323	chr4:708932-708933	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200396931	chr4:708937-708938	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs373952141	chr4:708959-708960	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367995199	chr4:708982-708983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55633214	chr4:708983-708984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182176148	chr4:709003-709004	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377325012	chr4:709020-709021	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs199623943	chr4:709025-709026	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533242312	chr4:709035-709036	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189604065	chr4:709055-709056	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569852526	chr4:709063-709064	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200386724	chr4:709083-709084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200307973	chr4:709086-709087	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs202054522	chr4:709087-709088	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368884431	chr4:709090-709091	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200586194	chr4:709111-709112	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549295432	chr4:709128-709129	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567521136	chr4:709130-709131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs55758867	chr4:709141-709142	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs13126245	chr4:709145-709146	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:220 , 50 per page) page: 1 2 3 4 5

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	chr4:702600-708600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:702600-715800	Weak transcription	Liver	Liver
16	chr4:702600-716800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:702600-724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:702800-714600	Weak transcription	Stomach Mucosa	stomach
19	chr4:702800-715000	Weak transcription	GM12878-XiMat	blood
20	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
21	chr4:703000-708800	Strong transcription	Fetal Stomach	stomach
22	chr4:703000-711400	Weak transcription	Fetal Heart	heart
23	chr4:703000-714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:703000-714000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:703000-716600	Weak transcription	Fetal Lung	lung
26	chr4:703400-714400	Weak transcription	Primary T cells from cord blood	blood
27	chr4:703400-714800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:703400-717800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:703400-724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:703600-708600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:703600-714600	Weak transcription	HUVEC	blood vessel
33	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:703800-715400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:703800-724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:704000-708600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:704000-724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:704200-714600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:704200-715800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:704400-709000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:704400-714400	Weak transcription	HSMM	muscle
42	chr4:704400-714600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:704400-714600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:704400-714600	Weak transcription	Right Atrium	heart
45	chr4:704400-715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:704400-721200	Weak transcription	Small Intestine	intestine
47	chr4:704400-721400	Weak transcription	A549	lung
48	chr4:704600-714200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:704800-714400	Weak transcription	Brain Hippocampus Middle	brain

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