Variant report

Variant	esv3338464
Chromosome Location	chr4:3510844-3511442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr4:3510967-3511421	GM12878	blood:	n/a	n/a
2	CTCF	chr4:3511300-3511450	GM12866	blood:	n/a	n/a
3	FOXA2	chr4:3511098-3511533	A549	lung:	n/a	n/a
4	PAX5	chr4:3510876-3511475	GM12878	blood:	n/a	n/a
5	PBX3	chr4:3511230-3511503	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:3510877-3511621	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:3511178-3511516	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:3511376-3511582	K562	blood:	n/a	n/a
9	POLR2A	chr4:3510884-3511586	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:3510916-3511395	A549	lung:	n/a	n/a
11	POLR2A	chr4:3510896-3511578	GM12891	blood:	n/a	n/a
12	POLR2A	chr4:3511383-3511576	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:3511383-3511398	MCF-7	breast:	n/a	n/a
14	POLR2A	chr4:3510768-3511720	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:3510895-3511456	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:3510629-3511706	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:3511362-3511422	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:3511371-3511556	K562	blood:	n/a	n/a
19	POLR2A	chr4:3510839-3511709	GM12892	blood:	n/a	n/a
20	REST	chr4:3510896-3511537	PANC-1	pancreas:	n/a	n/a
21	TCF3	chr4:3510842-3511585	GM12878	blood:	n/a	n/a
22	TCF3	chr4:3511316-3511454	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3510935-3510985	AG10803	skin:	n/a
2	chr4:3510935-3510985	HNPCEpiC	eye:	n/a
3	chr4:3510935-3510985	HRCEpiC	kidney:	n/a
4	chr4:3510935-3510985	SK-N-MC	brain:	n/a
5	chr4:3510935-3510985	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:3510935-3510985	ProgFib	skin:	n/a
7	chr4:3510935-3510985	HMEC	breast:	n/a
8	chr4:3510935-3510985	SAEC	small airway:	n/a
9	chr4:3510935-3510985	AoSMC	blood vessel:	n/a
10	chr4:3510935-3510985	NT2-D1	testis:	n/a
11	chr4:3510935-3510985	AG04450	lung:	fetal
12	chr4:3510935-3510985	BE2_C	brain:	n/a
13	chr4:3510935-3510985	A549	lung:	n/a
14	chr4:3510935-3510985	HUVEC	blood vessel:	n/a
15	chr4:3510935-3510985	Jurkat	blood:	n/a
16	chr4:3510935-3510985	LNCaP	prostate:	n/a
17	chr4:3510935-3510985	HEK293	kidney:	embryo
18	chr4:3510935-3510985	Hepatocyte	liver:	n/a
19	chr4:3510935-3510985	K562	blood:	n/a
20	chr4:3510935-3510985	HepG2	liver:	n/a
21	chr4:3510935-3510985	RPTEC	kidney:	n/a
22	chr4:3510935-3510985	PFSK-1	brain:	n/a
23	chr4:3510935-3510985	Hela-S3	cervix:	n/a
24	chr4:3510935-3510985	HL-60	blood:	n/a
25	chr4:3510935-3510985	GM12891	blood:	n/a
26	chr4:3510935-3510985	ECC-1	luminal epithelium:	n/a
27	chr4:3510935-3510985	IMR90	lung:	fetal
28	chr4:3510935-3510985	SK-N-SH	brain:	n/a
29	chr4:3510935-3510985	GM19239	blood:	n/a
30	chr4:3510935-3510985	GM06990	blood:	n/a
31	chr4:3510935-3510985	AG04449	skin:	fetal
32	chr4:3510935-3510985	CMK	blood:	n/a
33	chr4:3510935-3510985	U87	brain:	n/a
34	chr4:3510935-3510985	HRE	kidney:	n/a
35	chr4:3510935-3510985	NB4	blood:	n/a
36	chr4:3510935-3510985	AG09319	gingival:	n/a
37	chr4:3510935-3510985	H1-hESC	embryonic stem cell:	embryo
38	chr4:3510935-3510985	HIPEpiC	eye:	n/a
39	chr4:3510935-3510985	HEEpiC	esophagus:	n/a
40	chr4:3510935-3510985	NHBE	bronchial:	n/a
41	chr4:3510935-3510985	HRPEpiC	eye:	n/a
42	chr4:3510935-3510985	GM12878	blood:	n/a
43	chr4:3510935-3510985	MCF10A-Er-Src	breast:	n/a
44	chr4:3510935-3510985	HCPEpiC	choroid plexus:	n/a
45	chr4:3510935-3510985	PANC-1	pancreas:	n/a
46	chr4:3510935-3510985	Caco-2	colon:	n/a
47	chr4:3510935-3510985	GM12892	blood:	n/a
48	chr4:3510935-3510985	HCF	heart:	n/a
49	chr4:3510935-3510985	HCM	heart:	n/a
50	chr4:3510935-3510985	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3510781..3520846-chr4:3531784..3535437,12	MCF-7	breast:
2	chr4:3505279..3507142-chr4:3509021..3511655,2	K562	blood:
3	chr4:3510589..3512915-chr4:3532511..3535420,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261643	TF binding region
ENSG00000261643	CpG island
ENSG00000261643	chromatin interactions
ENSG00000163956	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145409422	chr4:3510847-3510848	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372711666	chr4:3510857-3510858	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544438944	chr4:3510880-3510881	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192641295	chr4:3510908-3510909	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184901788	chr4:3510921-3510922	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs58673626	chr4:3510925-3510926	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116619832	chr4:3510926-3510927	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532354026	chr4:3510929-3510930	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188771294	chr4:3510938-3510939	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs569293649	chr4:3510948-3510949	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1730765	chr4:3510954-3510955	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs10002108	chr4:3510957-3510958	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567434921	chr4:3510965-3510966	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536561568	chr4:3510990-3510991	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553257162	chr4:3510993-3510994	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573089650	chr4:3511008-3511009	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6821400	chr4:3511010-3511011	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112287766	chr4:3511012-3511013	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373988038	chr4:3511019-3511020	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544721470	chr4:3511063-3511064	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1730764	chr4:3511065-3511066	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9761583	chr4:3511120-3511121	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1610579	chr4:3511175-3511176	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56124515	chr4:3511227-3511228	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138631611	chr4:3511230-3511231	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13149433	chr4:3511276-3511277	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558284858	chr4:3511282-3511283	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575273999	chr4:3511283-3511284	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs62272701	chr4:3511285-3511286	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112896469	chr4:3511331-3511332	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs71608286	chr4:3511340-3511341	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs13129335	chr4:3511342-3511343	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs112243122	chr4:3511386-3511387	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34898817	chr4:3511395-3511396	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1794439	chr4:3511441-3511442	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3494200-3533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3499200-3529600	Strong transcription	Fetal Stomach	stomach
3	chr4:3500600-3531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3500600-3532000	Strong transcription	Thymus	Thymus
5	chr4:3500800-3521400	Strong transcription	Fetal Muscle Leg	muscle
6	chr4:3501000-3531600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:3501200-3513000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:3501400-3527200	Strong transcription	Ovary	ovary
9	chr4:3501400-3528000	Strong transcription	Dnd41	blood
10	chr4:3501600-3511200	Strong transcription	Fetal Intestine Large	intestine
11	chr4:3501600-3529000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:3501800-3528800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:3502000-3516800	Strong transcription	Fetal Intestine Small	intestine
14	chr4:3502000-3531600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:3502200-3525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:3502400-3527200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:3502400-3528400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:3502800-3522800	Strong transcription	Brain Anterior Caudate	brain
19	chr4:3502800-3531800	Strong transcription	Primary T cells from cord blood	blood
20	chr4:3503000-3515400	Weak transcription	GM12878-XiMat	blood
21	chr4:3503000-3528000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:3503000-3530400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr4:3503000-3530600	Strong transcription	Placenta	Placenta
24	chr4:3503000-3531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:3503200-3517200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:3503200-3531400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr4:3503400-3528800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr4:3503400-3530600	Strong transcription	Liver	Liver
29	chr4:3503600-3526800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:3503600-3527800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:3503600-3529000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:3504000-3513200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:3504000-3528200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:3504000-3528400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:3504000-3532400	Weak transcription	Hela-S3	cervix
36	chr4:3504200-3532200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:3504400-3516600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:3504600-3527400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:3504800-3528200	Strong transcription	Adipose Nuclei	Adipose
40	chr4:3505000-3527200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:3505000-3532000	Weak transcription	Right Atrium	heart
42	chr4:3505200-3513200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:3505600-3527000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:3505800-3521000	Weak transcription	HSMMtube	muscle
45	chr4:3506600-3513200	Strong transcription	Brain Germinal Matrix	brain
46	chr4:3506600-3527000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr4:3506600-3528400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:3506600-3529200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr4:3506800-3526600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:3506800-3526800	Strong transcription	Fetal Thymus	thymus

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