Variant report

Variant	esv3385459
Chromosome Location	chr4:26926504-26930302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26858456..26860420-chr4:26928261..26931119,2	MCF-7	breast:
2	chr4:26929049..26932416-chr4:26937175..26939754,3	K562	blood:
3	chr4:26929502..26931950-chr4:26933596..26935947,2	K562	blood:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531846518	chr4:26926636-26926637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201048665	chr4:26926708-26926709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372579592	chr4:26927035-26927036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377603193	chr4:26927040-26927041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369204759	chr4:26927079-26927080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373514620	chr4:26927102-26927103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201728714	chr4:26927175-26927176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377659728	chr4:26927264-26927265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370888712	chr4:26927306-26927307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62302475	chr4:26927323-26927324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375243658	chr4:26927373-26927374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200287410	chr4:26927459-26927460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546128438	chr4:26927504-26927505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375610314	chr4:26927532-26927533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376924339	chr4:26927576-26927577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370548480	chr4:26927620-26927621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373686097	chr4:26927654-26927655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367560825	chr4:26927689-26927690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371662234	chr4:26927695-26927696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62302476	chr4:26927751-26927752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201292169	chr4:26927881-26927882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62302477	chr4:26927918-26927919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62302478	chr4:26927974-26927975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200670242	chr4:26927998-26927999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201682026	chr4:26928308-26928309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200590653	chr4:26928389-26928390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62302479	chr4:26928701-26928702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
28	rs542175980	chr4:26928949-26928950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562281272	chr4:26928950-26928951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28798369	chr4:26929080-26929081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13117860	chr4:26929209-26929210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543782260	chr4:26929294-26929295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199663420	chr4:26929302-26929303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71186498	chr4:26929329-26929330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370625781	chr4:26929336-26929337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527909246	chr4:26929341-26929342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373925279	chr4:26929348-26929349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77685390	chr4:26929361-26929362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535586272	chr4:26929379-26929380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572031930	chr4:26929380-26929381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557643267	chr4:26929381-26929382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557166466	chr4:26929390-26929391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547859925	chr4:26929419-26929420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11937579	chr4:26929465-26929466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192186003	chr4:26929471-26929472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543142802	chr4:26929479-26929480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184611273	chr4:26929483-26929484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570078417	chr4:26929484-26929485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538114047	chr4:26929522-26929523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554592395	chr4:26929523-26929524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26907200-26937800	Weak transcription	Stomach Mucosa	stomach
2	chr4:26910000-26926600	Weak transcription	Fetal Stomach	stomach
3	chr4:26911600-26965800	Weak transcription	HMEC	breast
4	chr4:26914600-26936800	Weak transcription	Small Intestine	intestine
5	chr4:26914800-26929200	Weak transcription	K562	blood
6	chr4:26914800-26929600	Weak transcription	Pancreas	Pancrea
7	chr4:26914800-26930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:26914800-26932400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:26914800-26932600	Weak transcription	Spleen	Spleen
10	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:26918200-26938400	Weak transcription	Psoas Muscle	Psoas
12	chr4:26918400-26939800	Weak transcription	Fetal Heart	heart
13	chr4:26919600-26932800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:26919800-26927000	Weak transcription	HepG2	liver
15	chr4:26920000-26926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:26921800-26932400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:26922200-26932400	Weak transcription	Fetal Kidney	kidney
18	chr4:26922400-26927400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:26922600-26932600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:26922800-26941400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:26923000-26932400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:26923000-26940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:26923000-26942400	Weak transcription	Fetal Brain Male	brain
24	chr4:26923000-26942400	Weak transcription	Left Ventricle	heart
25	chr4:26923200-26939400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:26923200-26941400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:26923200-26942400	Weak transcription	Brain Angular Gyrus	brain
28	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
30	chr4:26923400-26954400	Weak transcription	HSMM	muscle
31	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:26923600-26931200	Weak transcription	Liver	Liver
33	chr4:26923600-26936000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:26923800-26931400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:26923800-26943800	Weak transcription	Fetal Lung	lung
36	chr4:26924400-26927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:26924400-26927600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:26924400-26931400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:26924400-26932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:26924400-26932600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:26924400-26932600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:26924400-26936000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:26924400-26936200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:26924400-26936400	Weak transcription	Primary B cells from cord blood	blood
45	chr4:26924400-26936400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:26924400-26938200	Weak transcription	GM12878-XiMat	blood
47	chr4:26924400-26938400	Weak transcription	Ovary	ovary
48	chr4:26924400-26940200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:26924400-26940600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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