Variant report

Variant	esv3408909
Chromosome Location	chr4:110598728-110601276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
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	CBX3	chr4:110599998-110600212	K562	blood:	n/a	n/a
2	FOXA2	chr4:110598958-110599317	A549	lung:	n/a	n/a
3	MYC	chr4:110600719-110600759	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR2F2	chr4:110598982-110599304	K562	blood:	n/a	n/a
5	NR2F2	chr4:110598930-110599448	K562	blood:	n/a	n/a
6	POLR2A	chr4:110600202-110600217	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110599688-110599738	HRE	kidney:	n/a
2	chr4:110600020-110600070	HL-60	blood:	n/a
3	chr4:110600020-110600070	AG09309	skin:	n/a
4	chr4:110599688-110599738	NHBE	bronchial:	n/a
5	chr4:110599688-110599738	GM19239	blood:	n/a
6	chr4:110599688-110599738	CMK	blood:	n/a
7	chr4:110600020-110600070	AG04449	skin:	fetal
8	chr4:110599688-110599738	SKMC	muscle:	n/a
9	chr4:110600020-110600070	IMR90	lung:	fetal
10	chr4:110599688-110599738	RPTEC	kidney:	n/a
11	chr4:110600020-110600070	HEK293	kidney:	embryo
12	chr4:110599688-110599738	HCF	heart:	n/a
13	chr4:110599688-110599738	HNPCEpiC	eye:	n/a
14	chr4:110600020-110600070	MCF10A-Er-Src	breast:	n/a
15	chr4:110600020-110600070	ECC-1	luminal epithelium:	n/a
16	chr4:110599688-110599738	SAEC	small airway:	n/a
17	chr4:110600020-110600070	HRE	kidney:	n/a
18	chr4:110600020-110600070	HUVEC	blood vessel:	n/a
19	chr4:110600020-110600070	AoSMC	blood vessel:	n/a
20	chr4:110599688-110599738	Caco-2	colon:	n/a
21	chr4:110600020-110600070	SK-N-SH	brain:	n/a
22	chr4:110600020-110600070	GM12878	blood:	n/a
23	chr4:110599688-110599738	GM12892	blood:	n/a
24	chr4:110600020-110600070	AG04450	lung:	fetal
25	chr4:110599688-110599738	A549	lung:	n/a
26	chr4:110599688-110599738	PANC-1	pancreas:	n/a
27	chr4:110600020-110600070	BE2_C	brain:	n/a
28	chr4:110600020-110600070	ProgFib	skin:	n/a
29	chr4:110599688-110599738	PrEC	prostate:	n/a
30	chr4:110599688-110599738	SK-N-SH	brain:	n/a
31	chr4:110599688-110599738	HIPEpiC	eye:	n/a
32	chr4:110599688-110599738	BE2_C	brain:	n/a
33	chr4:110600020-110600070	PANC-1	pancreas:	n/a
34	chr4:110599688-110599738	HCPEpiC	choroid plexus:	n/a
35	chr4:110599688-110599738	NT2-D1	testis:	n/a
36	chr4:110599688-110599738	HepG2	liver:	n/a
37	chr4:110599688-110599738	NB4	blood:	n/a
38	chr4:110600020-110600070	Jurkat	blood:	n/a
39	chr4:110599688-110599738	AG04449	skin:	fetal
40	chr4:110599688-110599738	AG09319	gingival:	n/a
41	chr4:110600020-110600070	HNPCEpiC	eye:	n/a
42	chr4:110599688-110599738	Hepatocyte	liver:	n/a
43	chr4:110599688-110599738	H1-hESC	embryonic stem cell:	embryo
44	chr4:110599688-110599738	AG09309	skin:	n/a
45	chr4:110599688-110599738	NH-A	brain:	n/a
46	chr4:110599688-110599738	MCF-7	breast:	n/a
47	chr4:110599688-110599738	Jurkat	blood:	n/a
48	chr4:110599688-110599738	HCT-116	colon:	n/a
49	chr4:110600020-110600070	PFSK-1	brain:	n/a
50	chr4:110599688-110599738	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110596739..110598343-chr4:110599981..110601558,2	MCF-7	breast:
2	chr4:110353199..110355623-chr4:110596847..110599552,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC109B	TF binding region
CCDC109B	CpG island
ENSG00000138802	chromatin interactions
ENSG00000247950	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115937916	chr4:110598809-110598810	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150991617	chr4:110598812-110598813	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536594389	chr4:110598828-110598829	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117022579	chr4:110598830-110598831	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189060522	chr4:110598843-110598844	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573962032	chr4:110598880-110598881	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs77985525	chr4:110598922-110598923	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559597365	chr4:110598929-110598930	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71595506	chr4:110598985-110598986	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528437012	chr4:110599022-110599023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545185712	chr4:110599036-110599037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553082641	chr4:110599047-110599048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565078721	chr4:110599050-110599051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181462795	chr4:110599061-110599062	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550713441	chr4:110599074-110599075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186442585	chr4:110599077-110599078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139917582	chr4:110599136-110599137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546323872	chr4:110599157-110599158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189283123	chr4:110599180-110599181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180888205	chr4:110599181-110599182	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185976980	chr4:110599214-110599215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571528464	chr4:110599224-110599225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537282180	chr4:110599228-110599229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557405528	chr4:110599253-110599254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113533964	chr4:110599279-110599280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536641954	chr4:110599350-110599351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4698746	chr4:110599377-110599378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
28	rs573130339	chr4:110599417-110599418	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs191249224	chr4:110599438-110599439	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183407295	chr4:110599447-110599448	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185618038	chr4:110599448-110599449	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190833347	chr4:110599473-110599474	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544101557	chr4:110599476-110599477	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs561033086	chr4:110599525-110599526	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529789636	chr4:110599526-110599527	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546533053	chr4:110599536-110599537	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs559895061	chr4:110599553-110599554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140371329	chr4:110599573-110599574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377475801	chr4:110599597-110599598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571636635	chr4:110599601-110599602	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537244972	chr4:110599602-110599603	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568822634	chr4:110599609-110599610	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183017761	chr4:110599611-110599612	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567712378	chr4:110599618-110599619	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536353117	chr4:110599635-110599636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553306478	chr4:110599640-110599641	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187939241	chr4:110599648-110599649	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193209021	chr4:110599656-110599657	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558867285	chr4:110599669-110599670	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575655058	chr4:110599671-110599672	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110571000-110605400	Weak transcription	Left Ventricle	heart
2	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
3	chr4:110579200-110608400	Weak transcription	Ovary	ovary
4	chr4:110583600-110605600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:110584200-110606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:110584400-110608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:110585200-110599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:110585800-110608800	Weak transcription	Adipose Nuclei	Adipose
9	chr4:110586000-110599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:110586000-110605200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:110590200-110602600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:110590600-110606000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:110591200-110602600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:110591200-110608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:110591600-110605000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:110592000-110611600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:110592200-110599600	Weak transcription	Thymus	Thymus
19	chr4:110592800-110603800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:110593000-110600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:110593000-110601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:110593000-110608200	Weak transcription	Fetal Lung	lung
23	chr4:110593200-110600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:110593800-110611600	Weak transcription	K562	blood
25	chr4:110594200-110601800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:110594400-110599000	Strong transcription	Primary T cells from cord blood	blood
27	chr4:110595200-110599600	Weak transcription	Fetal Thymus	thymus
28	chr4:110595200-110601400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:110596600-110605600	Weak transcription	GM12878-XiMat	blood
30	chr4:110596800-110601800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:110597000-110601400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:110597000-110601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:110597000-110601600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:110597000-110605800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:110597400-110605600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:110597600-110599000	Strong transcription	Primary B cells from cord blood	blood
37	chr4:110597600-110603600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:110598400-110598800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr4:110598400-110598800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:110598400-110599000	ZNF genes & repeats	Dnd41	blood
41	chr4:110598400-110608200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:110598600-110598800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr4:110598600-110598800	Enhancers	NHEK	skin
44	chr4:110598600-110599000	Enhancers	HepG2	liver
45	chr4:110598600-110603600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:110598600-110610400	Weak transcription	HSMMtube	muscle
47	chr4:110598800-110601200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:110598800-110611200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:110598800-110622800	Weak transcription	NHEK	skin
50	chr4:110599000-110600800	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links