Variant report

Variant	esv3325565
Chromosome Location	chr4:7976452-7980650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
2	chr4:7938506..7945813-chr4:7968503..7977501,21	MCF-7	breast:
3	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
4	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
5	chr4:7940916..7942469-chr4:7977876..7979567,2	MCF-7	breast:
6	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	chromatin interactions
ENSG00000196526	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs377587497	chr4:7976453-7976454	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568381600	chr4:7976508-7976509	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117731677	chr4:7976538-7976539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11722743	chr4:7976637-7976638	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs193124000	chr4:7976671-7976672	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574708592	chr4:7976742-7976743	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184630431	chr4:7976758-7976759	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567658358	chr4:7976772-7976773	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2386052	chr4:7976898-7976899	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531027561	chr4:7976926-7976927	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542476170	chr4:7976945-7976946	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs28523521	chr4:7976995-7976996	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550757773	chr4:7977047-7977048	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188300779	chr4:7977065-7977066	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528815134	chr4:7977069-7977070	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377657140	chr4:7977129-7977130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546902902	chr4:7977138-7977139	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568995266	chr4:7977163-7977164	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143594132	chr4:7977177-7977178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373631544	chr4:7977199-7977200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34531374	chr4:7977200-7977201	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550722302	chr4:7977201-7977202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139282102	chr4:7977221-7977222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537128138	chr4:7977260-7977261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371373953	chr4:7977275-7977276	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs180816892	chr4:7977281-7977282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570444235	chr4:7977366-7977367	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534295107	chr4:7977391-7977392	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553308417	chr4:7977409-7977410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs75169159	chr4:7977467-7977468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184144431	chr4:7977469-7977470	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188547342	chr4:7977470-7977471	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150012412	chr4:7977492-7977493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12640825	chr4:7977494-7977495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145189587	chr4:7977500-7977501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572610304	chr4:7977505-7977506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148730187	chr4:7977520-7977521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562051624	chr4:7977527-7977528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534711410	chr4:7977528-7977529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529534755	chr4:7977572-7977573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550808419	chr4:7977584-7977585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143882738	chr4:7977590-7977591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561294932	chr4:7977604-7977605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146889274	chr4:7977605-7977606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12644791	chr4:7977611-7977612	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs570406930	chr4:7977634-7977635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534612795	chr4:7977636-7977637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552997600	chr4:7977661-7977662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568413453	chr4:7977675-7977676	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535723012	chr4:7977694-7977695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7970400-7980200	Weak transcription	HSMM	muscle
3	chr4:7972200-7979600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:7972200-7980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7972400-7978400	Weak transcription	Fetal Kidney	kidney
6	chr4:7972400-7980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:7973000-7978400	Weak transcription	Fetal Lung	lung
8	chr4:7973000-7980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:7973000-7980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:7973000-7980200	Weak transcription	Adipose Nuclei	Adipose
11	chr4:7973400-7978400	Weak transcription	Fetal Brain Male	brain
12	chr4:7973400-7978400	Weak transcription	Fetal Heart	heart
13	chr4:7973600-7976800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:7973600-7980400	Weak transcription	Ovary	ovary
15	chr4:7974400-7979800	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:7974400-7989400	Weak transcription	Gastric	stomach
17	chr4:7974600-7978400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:7974600-7979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:7974600-7979600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:7974600-7979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7974600-7979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:7974600-7979800	Weak transcription	Colonic Mucosa	Colon
23	chr4:7974600-7979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:7974600-7979800	Weak transcription	Fetal Stomach	stomach
25	chr4:7974600-7980000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:7974600-7980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:7974600-7980000	Weak transcription	HUVEC	blood vessel
28	chr4:7974600-7980400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:7974800-7980200	Weak transcription	Lung	lung
30	chr4:7975000-7980400	Weak transcription	Pancreas	Pancrea
31	chr4:7975200-7978400	Weak transcription	Hela-S3	cervix
32	chr4:7975600-7976600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:7975600-7978000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:7975600-7979000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:7975600-7979600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:7975600-7979600	Weak transcription	HSMMtube	muscle
37	chr4:7975600-7979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:7975600-7979800	Weak transcription	Esophagus	oesophagus
39	chr4:7975600-7979800	Weak transcription	Fetal Thymus	thymus
40	chr4:7975600-7980000	Weak transcription	Stomach Mucosa	stomach
41	chr4:7975600-7980000	Weak transcription	A549	lung
42	chr4:7975600-7983600	Weak transcription	Brain Angular Gyrus	brain
43	chr4:7975600-7984800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:7975800-7978000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:7975800-7978200	Weak transcription	Brain Anterior Caudate	brain
46	chr4:7975800-7979200	Weak transcription	Fetal Intestine Small	intestine
47	chr4:7975800-7979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:7975800-7979800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:7975800-7979800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:7975800-7980000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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