Variant report

Variant	esv14391
Chromosome Location	chr4:1291389-1292044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr4:1291724-1291883	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr4:1291717-1291769	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr4:1291541-1291968	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr4:1291542-1292061	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:1290890-1291590	K562	blood:	n/a	n/a
6	POLR2A	chr4:1290513-1292103	K562	blood:	n/a	n/a
7	POLR2A	chr4:1291917-1291936	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1291751-1291754	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:1291190-1291674	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:1291943-1292029	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:1291554-1291895	K562	blood:	n/a	n/a
12	POLR2A	chr4:1291362-1291394	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:1291717-1291724	K562	blood:	n/a	n/a
14	POLR2A	chr4:1290789-1292001	K562	blood:	n/a	n/a
15	POLR2A	chr4:1291680-1291735	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:1290939-1291735	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:1291593-1291628	K562	blood:	n/a	n/a
18	POLR2A	chr4:1291889-1292124	K562	blood:	n/a	n/a
19	POLR2A	chr4:1291733-1291927	K562	blood:	n/a	n/a
20	POLR2A	chr4:1291653-1291665	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr4:1291592-1291647	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr4:1291598-1291605	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr4:1291482-1291999	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr4:1291505-1291971	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1291382-1291432	NHBE	bronchial:	n/a
2	chr4:1291382-1291432	PFSK-1	brain:	n/a
3	chr4:1291382-1291432	AG09319	gingival:	n/a
4	chr4:1291382-1291432	Jurkat	blood:	n/a
5	chr4:1291382-1291432	HNPCEpiC	eye:	n/a
6	chr4:1291382-1291432	HRCEpiC	kidney:	n/a
7	chr4:1291382-1291432	U87	brain:	n/a
8	chr4:1291382-1291432	HEEpiC	esophagus:	n/a
9	chr4:1291382-1291432	IMR90	lung:	fetal
10	chr4:1291382-1291432	BE2_C	brain:	n/a
11	chr4:1291382-1291432	GM12878	blood:	n/a
12	chr4:1291382-1291432	HCT-116	colon:	n/a
13	chr4:1291382-1291432	A549	lung:	n/a
14	chr4:1291382-1291432	AoSMC	blood vessel:	n/a
15	chr4:1291382-1291432	AG04449	skin:	fetal
16	chr4:1291382-1291432	MCF10A-Er-Src	breast:	n/a
17	chr4:1291382-1291432	HCM	heart:	n/a
18	chr4:1291382-1291432	Hepatocyte	liver:	n/a
19	chr4:1291382-1291432	SK-N-SH_RA	brain:	n/a
20	chr4:1291382-1291432	NB4	blood:	n/a
21	chr4:1291382-1291432	HCPEpiC	choroid plexus:	n/a
22	chr4:1291382-1291432	GM19239	blood:	n/a
23	chr4:1291382-1291432	SK-N-MC	brain:	n/a
24	chr4:1291382-1291432	ECC-1	luminal epithelium:	n/a
25	chr4:1291382-1291432	HRE	kidney:	n/a
26	chr4:1291382-1291432	T-47D	breast:	n/a
27	chr4:1291382-1291432	HUVEC	blood vessel:	n/a
28	chr4:1291382-1291432	NHDF-neo	bronchial:	n/a
29	chr4:1291382-1291432	SKMC	muscle:	n/a
30	chr4:1291382-1291432	SAEC	small airway:	n/a
31	chr4:1291382-1291432	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:1291382-1291432	NT2-D1	testis:	n/a
33	chr4:1291382-1291432	HEK293	kidney:	embryo
34	chr4:1291382-1291432	LNCaP	prostate:	n/a
35	chr4:1291382-1291432	HepG2	liver:	n/a
36	chr4:1291382-1291432	GM12891	blood:	n/a
37	chr4:1291382-1291432	MCF-7	breast:	n/a
38	chr4:1291382-1291432	GM06990	blood:	n/a
39	chr4:1291382-1291432	NH-A	brain:	n/a
40	chr4:1291382-1291432	ovcar-3	ovarian:	n/a
41	chr4:1291382-1291432	HMEC	breast:	n/a
42	chr4:1291382-1291432	HIPEpiC	eye:	n/a
43	chr4:1291382-1291432	PANC-1	pancreas:	n/a
44	chr4:1291382-1291432	AG09309	skin:	n/a
45	chr4:1291382-1291432	RPTEC	kidney:	n/a
46	chr4:1291382-1291432	H1-hESC	embryonic stem cell:	embryo
47	chr4:1291382-1291432	K562	blood:	n/a
48	chr4:1291382-1291432	SK-N-SH	brain:	n/a
49	chr4:1291382-1291432	CMK	blood:	n/a
50	chr4:1291382-1291432	HAEpiC	amniotic membrane:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
2	chr4:1236923..1239811-chr4:1291885..1294129,2	K562	blood:
3	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-4	chr4:1291858-1291903	NONHSAT094696

No data

Variant related genes	Relation type
MAEA	TF binding region
MAEA	CpG island
ENSG00000159692	chromatin interactions
ENSG00000196810	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114284645	chr4:1291389-1291390	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73069998	chr4:1291402-1291403	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553887652	chr4:1291408-1291409	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs116594735	chr4:1291430-1291431	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373381811	chr4:1291444-1291445	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376734212	chr4:1291445-1291446	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs73069999	chr4:1291463-1291464	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373384843	chr4:1291464-1291465	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs2293632	chr4:1291478-1291479	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543770929	chr4:1291482-1291483	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561863550	chr4:1291537-1291538	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs573924196	chr4:1291543-1291544	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs541239299	chr4:1291553-1291554	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs73796061	chr4:1291554-1291555	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533067892	chr4:1291579-1291580	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145196539	chr4:1291634-1291635	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs2293633	chr4:1291640-1291641	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73796062	chr4:1291665-1291666	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373587393	chr4:1291673-1291674	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs189742573	chr4:1291696-1291697	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2293634	chr4:1291711-1291712	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs542292190	chr4:1291732-1291733	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182349466	chr4:1291750-1291751	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113239728	chr4:1291766-1291767	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs2293635	chr4:1291791-1291792	Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs62295164	chr4:1291861-1291862	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs374982939	chr4:1291871-1291872	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs557846191	chr4:1291946-1291947	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368309798	chr4:1291954-1291955	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs375295464	chr4:1291969-1291970	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11723920	chr4:1291970-1291971	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144158897	chr4:1291982-1291983	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541198334	chr4:1292006-1292007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11729031	chr4:1292014-1292015	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11729033	chr4:1292023-1292024	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547308680	chr4:1292036-1292037	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188994246	chr4:1292039-1292040	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565634021	chr4:1292040-1292041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1285200-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:1285200-1303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:1285400-1293400	Weak transcription	A549	lung
4	chr4:1285400-1294200	Weak transcription	HSMMtube	muscle
5	chr4:1285400-1294200	Weak transcription	HUVEC	blood vessel
6	chr4:1285400-1302400	Weak transcription	Fetal Kidney	kidney
7	chr4:1285600-1291400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:1285800-1296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:1285800-1302200	Weak transcription	NHDF-Ad	bronchial
10	chr4:1286000-1295200	Strong transcription	Thymus	Thymus
11	chr4:1286200-1291400	Weak transcription	Hela-S3	cervix
12	chr4:1286200-1293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:1286200-1299200	Strong transcription	Fetal Intestine Small	intestine
14	chr4:1286200-1302400	Weak transcription	Fetal Brain Male	brain
15	chr4:1286400-1299000	Weak transcription	Small Intestine	intestine
16	chr4:1287400-1291800	Genic enhancers	Gastric	stomach
17	chr4:1287400-1292000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:1287400-1294600	Genic enhancers	Spleen	Spleen
19	chr4:1287600-1295200	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr4:1287800-1293400	Weak transcription	HSMM	muscle
21	chr4:1288400-1291600	Weak transcription	Primary B cells from cord blood	blood
22	chr4:1288400-1292200	Genic enhancers	Pancreas	Pancrea
23	chr4:1289000-1296000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:1289000-1298800	Weak transcription	Stomach Mucosa	stomach
25	chr4:1289200-1291600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:1289200-1292800	Weak transcription	GM12878-XiMat	blood
27	chr4:1289400-1291600	Strong transcription	Lung	lung
28	chr4:1289400-1295200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:1289400-1298800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:1289400-1299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:1289400-1299400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:1289400-1299400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:1289400-1299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:1289400-1302200	Weak transcription	Fetal Heart	heart
35	chr4:1289600-1294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:1289600-1295400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:1289800-1292400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr4:1290000-1291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:1290000-1292800	Strong transcription	Fetal Muscle Leg	muscle
40	chr4:1290000-1293000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:1290000-1294000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:1290000-1294800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:1290000-1295000	Strong transcription	Colonic Mucosa	Colon
44	chr4:1290000-1295200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:1290000-1295400	Strong transcription	Fetal Brain Female	brain
46	chr4:1290000-1302400	Strong transcription	Fetal Stomach	stomach
47	chr4:1290200-1291400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:1290200-1291400	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr4:1290200-1291800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:1290200-1291800	Genic enhancers	Esophagus	oesophagus

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