Variant report

Variant	esv3423191
Chromosome Location	chr4:187079958-187083056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:187082521-187082663	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr4:187082411-187082510	GM12878	blood:	n/a	n/a
3	CHD2	chr4:187082399-187082540	HepG2	liver:	n/a	n/a
4	CTCF	chr4:187080860-187081010	GM12873	blood:	n/a	n/a
5	CTCF	chr4:187081758-187081817	GM12892	blood:	n/a	n/a
6	CTCF	chr4:187080920-187081066	GM19239	blood:	n/a	n/a
7	CTCF	chr4:187080931-187080984	GM12891	blood:	n/a	n/a
8	CTCF	chr4:187080909-187081018	GM19238	blood:	n/a	n/a
9	CTCF	chr4:187081780-187081930	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr4:187080720-187080870	A549	lung:	n/a	n/a
11	CTCF	chr4:187081147-187081371	GM12892	blood:	n/a	n/a
12	CTCF	chr4:187080889-187081009	GM19240	blood:	n/a	n/a
13	CTCF	chr4:187080860-187081010	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr4:187080809-187081131	GM12878	blood:	n/a	n/a
15	CTCF	chr4:187081581-187081979	GM19239	blood:	n/a	n/a
16	CTCF	chr4:187081564-187081567	GM19239	blood:	n/a	n/a
17	CTCF	chr4:187080922-187081016	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:187081373-187081387	GM12892	blood:	n/a	n/a
19	CTCF	chr4:187080907-187081030	GM12892	blood:	n/a	n/a
20	CTCF	chr4:187080900-187081050	GM12865	blood:	n/a	n/a
21	CTCF	chr4:187081060-187081210	GM12864	blood:	n/a	n/a
22	CTCF	chr4:187081073-187081547	GM19239	blood:	n/a	n/a
23	E2F4	chr4:187082681-187082979	MCF10A-Er-Src	breast:	n/a	n/a
24	ELK1	chr4:187081032-187081185	Hela-S3	cervix:	n/a	n/a
25	MAFF	chr4:187080102-187080469	HepG2	liver:	n/a	chr4:187080282-187080296 chr4:187080283-187080301
26	MAFF	chr4:187080105-187080458	K562	blood:	n/a	chr4:187080282-187080296 chr4:187080283-187080301
27	MAFK	chr4:187080113-187080458	HepG2	liver:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
28	MAFK	chr4:187080100-187080450	K562	blood:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
29	MAFK	chr4:187080105-187080474	HepG2	liver:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
30	MAFK	chr4:187080174-187080411	Hela-S3	cervix:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
31	MAFK	chr4:187080152-187080417	H1-hESC	embryonic stem cell:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
32	MAFK	chr4:187080104-187080470	IMR90	lung:	n/a	chr4:187080288-187080299 chr4:187080282-187080296 chr4:187080284-187080299 chr4:187080279-187080299 chr4:187080289-187080300 chr4:187080288-187080299 chr4:187080289-187080300 chr4:187080281-187080297
33	MYC	chr4:187081937-187081943	MCF-7	breast:	n/a	n/a
34	MYC	chr4:187081658-187081924	MCF-7	breast:	n/a	n/a
35	NR2C2	chr4:187081027-187081923	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:187082320-187082704	GM12892	blood:	n/a	n/a
37	POLR2A	chr4:187082387-187082588	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:187082459-187082518	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:187082625-187082667	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:187082297-187082661	GM12892	blood:	n/a	n/a
41	POLR2A	chr4:187082444-187082587	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:187082262-187082673	GM12892	blood:	n/a	n/a
43	POLR2A	chr4:187081002-187081751	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:187081786-187081895	A549	lung:	n/a	n/a
45	POLR2A	chr4:187082302-187082647	GM12892	blood:	n/a	n/a
46	POU2F2	chr4:187081119-187081535	GM12878	blood:	n/a	n/a
47	RAD21	chr4:187080871-187081071	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr4:187080963-187081020	Hela-S3	cervix:	n/a	n/a
49	RUNX3	chr4:187081491-187082037	GM12878	blood:	n/a	n/a
50	RUNX3	chr4:187082272-187082617	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187077276..187078819-chr4:187080715..187083352,2	K562	blood:
2	chr4:187080678..187082912-chr4:187084577..187086317,2	K562	blood:

Variant related genes	Relation type
FAM149A	TF binding region
ENSG00000109794	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs550458128	chr4:187079963-187079964	Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77309711	chr4:187079979-187079980	Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199974065	chr4:187079994-187079995	Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545266723	chr4:187080035-187080036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6834168	chr4:187080046-187080047	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548063704	chr4:187080055-187080056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149529143	chr4:187080077-187080078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544023957	chr4:187080085-187080086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545470131	chr4:187080197-187080198	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560917887	chr4:187080199-187080200	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143021475	chr4:187080203-187080204	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs74814362	chr4:187080218-187080219	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75464620	chr4:187080269-187080270	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs75243900	chr4:187080279-187080280	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35448567	chr4:187080288-187080289	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10011164	chr4:187080317-187080318	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs187974266	chr4:187080398-187080399	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73027967	chr4:187080400-187080401	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs151277926	chr4:187080401-187080402	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570468189	chr4:187080427-187080428	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566827678	chr4:187080432-187080433	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564450543	chr4:187080483-187080484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533955754	chr4:187080523-187080524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116347923	chr4:187080561-187080562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375535391	chr4:187080563-187080564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570496890	chr4:187080573-187080574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74544395	chr4:187080587-187080588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139792894	chr4:187080676-187080677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575347357	chr4:187080681-187080682	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547013513	chr4:187080685-187080686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114623782	chr4:187080721-187080722	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192657804	chr4:187080746-187080747	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138511561	chr4:187080759-187080760	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183856266	chr4:187080763-187080764	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188633654	chr4:187080837-187080838	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs56126431	chr4:187080845-187080846	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191895306	chr4:187080847-187080848	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546223670	chr4:187080848-187080849	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563159189	chr4:187080907-187080908	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531828505	chr4:187080926-187080927	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370097818	chr4:187080928-187080929	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548737994	chr4:187080955-187080956	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184374701	chr4:187080970-187080971	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190353171	chr4:187080977-187080978	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143274840	chr4:187080992-187080993	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570559651	chr4:187080995-187080996	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77911135	chr4:187081006-187081007	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375731127	chr4:187081011-187081012	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557318081	chr4:187081068-187081069	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562067394	chr4:187081077-187081078	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187067000-187083600	Weak transcription	Brain Substantia Nigra	brain
2	chr4:187067200-187091800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:187067400-187088000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:187067600-187081400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:187067600-187085800	Weak transcription	Colonic Mucosa	Colon
6	chr4:187068600-187084400	Weak transcription	Brain Angular Gyrus	brain
7	chr4:187070200-187081000	Weak transcription	Fetal Brain Male	brain
8	chr4:187070600-187091200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:187071200-187080200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:187071400-187080000	Weak transcription	Left Ventricle	heart
11	chr4:187071400-187081800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:187071400-187082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:187071400-187088800	Weak transcription	Right Atrium	heart
14	chr4:187071400-187090000	Weak transcription	Stomach Mucosa	stomach
15	chr4:187071600-187080600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:187071600-187081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:187071600-187081400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:187071600-187082200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:187071600-187083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:187071600-187084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:187071600-187089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:187071600-187089600	Weak transcription	Placenta	Placenta
23	chr4:187071600-187091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:187072200-187080200	Strong transcription	Liver	Liver
25	chr4:187072200-187081400	Strong transcription	Ovary	ovary
26	chr4:187072400-187081000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:187073200-187081000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:187073600-187087200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:187074600-187088400	Strong transcription	Fetal Intestine Small	intestine
30	chr4:187074800-187085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:187075200-187081000	Weak transcription	Fetal Kidney	kidney
32	chr4:187076600-187082000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:187077000-187080600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:187077000-187080600	Strong transcription	Fetal Intestine Large	intestine
35	chr4:187077000-187082600	Strong transcription	Lung	lung
36	chr4:187077600-187080000	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:187077800-187081400	Strong transcription	Pancreas	Pancrea
38	chr4:187078000-187080000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:187078000-187080000	Strong transcription	Rectal Smooth Muscle	rectum
40	chr4:187078400-187080000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:187078400-187080000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:187078400-187080000	Strong transcription	Fetal Lung	lung
43	chr4:187078400-187080000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:187078400-187080200	Strong transcription	Gastric	stomach
45	chr4:187078400-187082000	Strong transcription	Brain Anterior Caudate	brain
46	chr4:187078600-187080200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:187078800-187080000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:187078800-187080000	Strong transcription	Esophagus	oesophagus
49	chr4:187078800-187082000	Strong transcription	Adipose Nuclei	Adipose
50	chr4:187078800-187082000	Strong transcription	Brain Inferior Temporal Lobe	brain

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