Variant report

Variant	esv3409233
Chromosome Location	chr4:782477-785325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:781773..783952-chr4:990390..991968,2	MCF-7	breast:
2	chr2:38976823..38979247-chr4:785282..787385,2	MCF-7	breast:
3	chr4:782759..784380-chr4:786772..789323,2	K562	blood:
4	chr4:783843..786416-chr4:924435..926817,2	MCF-7	breast:
5	chr4:784755..787732-chr4:979538..982069,4	MCF-7	breast:
6	chr4:783386..786310-chr4:800890..802514,2	K562	blood:
7	chr1:166940001..166941556-chr4:781082..783860,2	MCF-7	breast:
8	chr4:782165..784382-chr4:833187..836148,2	MCF-7	breast:
9	chr4:782997..785390-chr4:814047..817037,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000145214	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000127415	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561740220	chr4:782484-782485	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573819357	chr4:782509-782510	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75312900	chr4:782513-782514	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35375974	chr4:782544-782545	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35259214	chr4:782545-782546	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541224905	chr4:782601-782602	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559711014	chr4:782629-782630	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192153615	chr4:782641-782642	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77934126	chr4:782654-782655	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563250248	chr4:782680-782681	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183875156	chr4:782684-782685	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549102792	chr4:782763-782764	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567250102	chr4:782773-782774	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529475891	chr4:782794-782795	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547571598	chr4:782819-782820	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs188557376	chr4:782833-782834	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs76035015	chr4:782840-782841	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs557868879	chr4:782892-782893	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs569989947	chr4:782897-782898	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs537039758	chr4:782913-782914	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs555876350	chr4:782916-782917	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs139815168	chr4:782927-782928	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs368741783	chr4:782931-782932	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs541261642	chr4:782932-782933	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs6811216	chr4:782940-782941	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs578002618	chr4:782947-782948	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs180699357	chr4:783003-783004	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs71299245	chr4:783028-783029	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs6850266	chr4:783036-783037	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs542239471	chr4:783083-783084	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs558722642	chr4:783090-783091	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs561074042	chr4:783092-783093	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs528142492	chr4:783103-783104	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs547603959	chr4:783119-783120	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs184633827	chr4:783139-783140	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs533451488	chr4:783146-783147	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs552090327	chr4:783170-783171	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs11734005	chr4:783194-783195	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs537479933	chr4:783225-783226	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs3775141	chr4:783230-783231	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs190366852	chr4:783239-783240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs535073228	chr4:783262-783263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs553214040	chr4:783281-783282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs577953417	chr4:783301-783302	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs3775142	chr4:783314-783315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs3775143	chr4:783333-783334	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs115080888	chr4:783343-783344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs542625872	chr4:783347-783348	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs376519348	chr4:783375-783376	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs13108421	chr4:783383-783384	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:64)

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
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:778600-784800	Bivalent Enhancer	Fetal Thymus	thymus
2	chr4:780400-784800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:780800-788800	Weak transcription	Right Atrium	heart
4	chr4:781000-782800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:781000-786000	Weak transcription	Pancreas	Pancrea
6	chr4:781200-782600	Weak transcription	Left Ventricle	heart
7	chr4:781200-782800	Weak transcription	Right Ventricle	heart
8	chr4:781200-784600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:781400-783600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr4:781400-783600	Enhancers	Spleen	Spleen
11	chr4:781800-785600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:782000-782600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:782000-786000	Weak transcription	GM12878-XiMat	blood
14	chr4:782200-783000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:782400-782600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:782400-782600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr4:782400-782600	Bivalent Enhancer	Placenta	Placenta
18	chr4:782400-782800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:782400-782800	Flanking Active TSS	Liver	Liver
20	chr4:782400-783000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:782400-783200	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr4:782400-783600	Enhancers	Esophagus	oesophagus
23	chr4:782400-783600	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr4:782400-783800	Enhancers	Gastric	stomach
25	chr4:782400-784200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:782600-782800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr4:782600-783000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:782600-783000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr4:782600-783400	Enhancers	Left Ventricle	heart
30	chr4:782600-783400	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr4:782600-784000	Enhancers	Placenta	Placenta
32	chr4:782600-784600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr4:782600-786600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr4:782800-783000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:782800-783000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:782800-783000	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr4:782800-783000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
38	chr4:782800-783200	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr4:782800-783200	Enhancers	Right Ventricle	heart
40	chr4:782800-783800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:782800-783800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr4:782800-784800	Enhancers	Liver	Liver
43	chr4:783000-783200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr4:783000-783200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
45	chr4:783000-783400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:783000-786600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:783200-783400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:783200-783400	Bivalent Enhancer	HepG2	liver
49	chr4:783200-783600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:783200-784600	Bivalent Enhancer	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links