Variant report

Variant	esv3464650
Chromosome Location	chr4:187091558-187100056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:187095502-187095528	GM20000	blood:	n/a	n/a
2	EGR1	chr4:187092216-187092431	K562	blood:	n/a	n/a
3	EGR1	chr4:187092192-187092477	K562	blood:	n/a	n/a
4	JUND	chr4:187093683-187093888	HepG2	liver:	n/a	chr4:187093824-187093833
5	POLR2A	chr4:187092366-187092402	Gliobla	brain:	n/a	n/a
6	RCOR1	chr4:187092265-187092360	K562	blood:	n/a	n/a
7	SETDB1	chr4:187099517-187099891	U2OS	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:
2	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
3	chr4:187092687..187094578-chr4:187097251..187099352,2	MCF-7	breast:
4	chr4:187091730..187094624-chr4:187097179..187100415,3	MCF-7	breast:
5	chr4:187098304..187101860-chr4:187110284..187112773,3	K562	blood:

No data

Variant related genes	Relation type
ORAOV1P1	TF binding region
ENSG00000251008	chromatin interactions
ENSG00000145476	chromatin interactions
ENSG00000269302	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189581858	chr4:187091588-187091589	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572427829	chr4:187091636-187091637	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9312345	chr4:187091644-187091645	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs368177084	chr4:187091654-187091655	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10440510	chr4:187091674-187091675	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552494160	chr4:187091678-187091679	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562673518	chr4:187091685-187091686	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75340274	chr4:187091686-187091687	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531362737	chr4:187091687-187091688	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545371330	chr4:187091691-187091692	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548280358	chr4:187091750-187091751	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568034249	chr4:187091769-187091770	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76484380	chr4:187091809-187091810	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547118862	chr4:187091828-187091829	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570109595	chr4:187091843-187091844	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539748775	chr4:187091845-187091846	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143970142	chr4:187091865-187091866	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138709754	chr4:187091872-187091873	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535646166	chr4:187091876-187091877	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374290744	chr4:187091877-187091878	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181635277	chr4:187091892-187091893	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112236706	chr4:187091897-187091898	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572484813	chr4:187091905-187091906	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558114116	chr4:187091920-187091921	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114742882	chr4:187091943-187091944	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578036015	chr4:187092101-187092102	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142737226	chr4:187092136-187092137	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561494740	chr4:187092186-187092187	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116105366	chr4:187092190-187092191	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531554898	chr4:187092191-187092192	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548112319	chr4:187092196-187092197	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76361675	chr4:187092234-187092235	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527442732	chr4:187092283-187092284	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547044165	chr4:187092295-187092296	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368227694	chr4:187092303-187092304	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147303647	chr4:187092304-187092305	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550006563	chr4:187092315-187092316	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10440485	chr4:187092329-187092330	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570043190	chr4:187092370-187092371	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373042768	chr4:187092372-187092373	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536134292	chr4:187092375-187092376	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4862655	chr4:187092399-187092400	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs111777788	chr4:187092404-187092405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534807698	chr4:187092405-187092406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190884454	chr4:187092428-187092429	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs140879545	chr4:187092465-187092466	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543809320	chr4:187092469-187092470	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs6846865	chr4:187092475-187092476	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113869817	chr4:187092481-187092482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542104886	chr4:187092507-187092508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187067200-187091800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:187080000-187091600	Strong transcription	Fetal Stomach	stomach
3	chr4:187080000-187092200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:187080000-187092200	Weak transcription	Spleen	Spleen
5	chr4:187080000-187094000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:187080200-187094000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:187081000-187099200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:187082000-187095000	Weak transcription	Fetal Brain Male	brain
9	chr4:187082200-187092000	Weak transcription	Fetal Lung	lung
10	chr4:187085000-187093200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:187086000-187091800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:187087400-187091800	Weak transcription	Adipose Nuclei	Adipose
13	chr4:187087400-187093000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:187090000-187091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:187090000-187092400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:187090200-187094800	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:187090400-187092600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:187090600-187095000	Weak transcription	Fetal Brain Female	brain
19	chr4:187090800-187092200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:187090800-187092200	Weak transcription	Pancreas	Pancrea
21	chr4:187090800-187092400	Weak transcription	Gastric	stomach
22	chr4:187091000-187092000	Weak transcription	Fetal Intestine Small	intestine
23	chr4:187091000-187092200	Weak transcription	Lung	lung
24	chr4:187091000-187092800	Weak transcription	Ovary	ovary
25	chr4:187091200-187092200	Enhancers	HepG2	liver
26	chr4:187091600-187093000	Weak transcription	Fetal Stomach	stomach
27	chr4:187092200-187092400	Enhancers	Lung	lung
28	chr4:187092200-187092400	Enhancers	Pancreas	Pancrea
29	chr4:187092200-187092400	Enhancers	Spleen	Spleen
30	chr4:187092400-187094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:187093000-187093200	Enhancers	Brain Germinal Matrix	brain
32	chr4:187093200-187094000	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:187094000-187094200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:187099200-187099600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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