Variant report

Variant	nsv524972
Chromosome Location	chr4:187078866-187079047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:187078955-187079103	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:187078966-187079181	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:187078910-187079176	K562	blood:	n/a	n/a
4	CEBPB	chr4:187078864-187079223	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:187078958-187079135	IMR90	lung:	n/a	n/a
6	CTCF	chr4:187079040-187079190	BE2_C	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187078828-187078878	HCM	heart:	n/a
2	chr4:187078828-187078878	MCF10A-Er-Src	breast:	n/a
3	chr4:187078828-187078878	NB4	blood:	n/a
4	chr4:187078828-187078878	BE2_C	brain:	n/a
5	chr4:187078828-187078878	SK-N-MC	brain:	n/a
6	chr4:187078828-187078878	SK-N-SH_RA	brain:	n/a
7	chr4:187078828-187078878	CMK	blood:	n/a
8	chr4:187078828-187078878	PrEC	prostate:	n/a
9	chr4:187078828-187078878	HRE	kidney:	n/a
10	chr4:187078828-187078878	GM12891	blood:	n/a
11	chr4:187078828-187078878	AG10803	skin:	n/a
12	chr4:187078828-187078878	HCF	heart:	n/a
13	chr4:187078828-187078878	GM12878	blood:	n/a
14	chr4:187078828-187078878	T-47D	breast:	n/a
15	chr4:187078828-187078878	SAEC	small airway:	n/a
16	chr4:187078828-187078878	Hepatocyte	liver:	n/a
17	chr4:187078828-187078878	BJ	skin:	n/a
18	chr4:187078828-187078878	AG09309	skin:	n/a
19	chr4:187078828-187078878	AG04449	skin:	fetal
20	chr4:187078828-187078878	PFSK-1	brain:	n/a
21	chr4:187078828-187078878	HepG2	liver:	n/a
22	chr4:187078828-187078878	NHDF-neo	bronchial:	n/a
23	chr4:187078828-187078878	NH-A	brain:	n/a
24	chr4:187078828-187078878	ProgFib	skin:	n/a
25	chr4:187078828-187078878	HIPEpiC	eye:	n/a
26	chr4:187078828-187078878	HL-60	blood:	n/a
27	chr4:187078828-187078878	HNPCEpiC	eye:	n/a
28	chr4:187078828-187078878	HAEpiC	amniotic membrane:	n/a
29	chr4:187078828-187078878	IMR90	lung:	fetal
30	chr4:187078828-187078878	Jurkat	blood:	n/a
31	chr4:187078828-187078878	GM06990	blood:	n/a
32	chr4:187078828-187078878	HRCEpiC	kidney:	n/a
33	chr4:187078828-187078878	ovcar-3	ovarian:	n/a
34	chr4:187078828-187078878	K562	blood:	n/a
35	chr4:187078828-187078878	AG09319	gingival:	n/a
36	chr4:187078828-187078878	HUVEC	blood vessel:	n/a
37	chr4:187078828-187078878	ECC-1	luminal epithelium:	n/a
38	chr4:187078828-187078878	GM19239	blood:	n/a
39	chr4:187078828-187078878	HMEC	breast:	n/a
40	chr4:187078828-187078878	RPTEC	kidney:	n/a
41	chr4:187078828-187078878	HEEpiC	esophagus:	n/a
42	chr4:187078828-187078878	PANC-1	pancreas:	n/a
43	chr4:187078828-187078878	A549	lung:	n/a
44	chr4:187078828-187078878	NT2-D1	testis:	n/a
45	chr4:187078828-187078878	MCF-7	breast:	n/a
46	chr4:187078828-187078878	GM12892	blood:	n/a
47	chr4:187078828-187078878	AG04450	lung:	fetal
48	chr4:187078828-187078878	HRPEpiC	eye:	n/a
49	chr4:187078828-187078878	AoSMC	blood vessel:	n/a
50	chr4:187078828-187078878	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000250327	TF binding region
ENSG00000250327	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2276922	chr4:187078866-187078867	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200596219	chr4:187078867-187078868	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs199970882	chr4:187078869-187078870	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs146323612	chr4:187078870-187078871	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs138257697	chr4:187078876-187078877	Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs530802563	chr4:187078920-187078921	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2276921	chr4:187078922-187078923	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs552606135	chr4:187078923-187078924	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563388980	chr4:187078937-187078938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2276920	chr4:187078938-187078939	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs77389559	chr4:187078982-187078983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565457050	chr4:187078990-187078991	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186250231	chr4:187078998-187078999	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371051969	chr4:187079002-187079003	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538448270	chr4:187079015-187079016	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113493632	chr4:187079016-187079017	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs1877321	chr4:187079017-187079018	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536598848	chr4:187079035-187079036	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2276919	chr4:187079047-187079048	Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187065600-187079000	Weak transcription	Spleen	Spleen
2	chr4:187066800-187079000	Weak transcription	Aorta	Aorta
3	chr4:187067000-187083600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:187067200-187091800	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:187067400-187088000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:187067600-187081400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:187067600-187085800	Weak transcription	Colonic Mucosa	Colon
8	chr4:187068600-187084400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:187070200-187081000	Weak transcription	Fetal Brain Male	brain
10	chr4:187070600-187091200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:187070800-187079600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:187070800-187079600	Strong transcription	Fetal Stomach	stomach
13	chr4:187071200-187080200	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:187071400-187079200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:187071400-187080000	Weak transcription	Left Ventricle	heart
16	chr4:187071400-187081800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:187071400-187082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:187071400-187088800	Weak transcription	Right Atrium	heart
19	chr4:187071400-187090000	Weak transcription	Stomach Mucosa	stomach
20	chr4:187071600-187080600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:187071600-187081200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:187071600-187081400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:187071600-187082200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:187071600-187083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:187071600-187084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:187071600-187089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:187071600-187089600	Weak transcription	Placenta	Placenta
28	chr4:187071600-187091200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:187072200-187079400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:187072200-187080200	Strong transcription	Liver	Liver
31	chr4:187072200-187081400	Strong transcription	Ovary	ovary
32	chr4:187072400-187081000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:187073200-187081000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:187073600-187087200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:187074600-187088400	Strong transcription	Fetal Intestine Small	intestine
36	chr4:187074800-187085200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:187075200-187081000	Weak transcription	Fetal Kidney	kidney
38	chr4:187075600-187079600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:187076200-187079000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:187076200-187079000	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:187076600-187082000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr4:187077000-187080600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:187077000-187080600	Strong transcription	Fetal Intestine Large	intestine
44	chr4:187077000-187082600	Strong transcription	Lung	lung
45	chr4:187077200-187079400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:187077600-187080000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:187077800-187081400	Strong transcription	Pancreas	Pancrea
48	chr4:187078000-187080000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:187078000-187080000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr4:187078400-187080000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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