Variant report

Variant	esv3372793
Chromosome Location	chr4:1314128-1315122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1313294..1315156-chr4:1320127..1321902,2	MCF-7	breast:
2	chr4:1313002..1315500-chr4:1338426..1340938,2	MCF-7	breast:
3	chr4:1307443..1309271-chr4:1314999..1317229,2	K562	blood:
4	chr4:1282487..1285160-chr4:1313904..1316772,2	MCF-7	breast:
5	chr4:1241359..1243168-chr4:1314910..1317673,2	MCF-7	breast:
6	chr4:1240559..1242857-chr4:1315029..1317757,2	MCF-7	breast:
7	chr4:1310884..1316010-chr4:1322677..1327905,6	MCF-7	breast:
8	chr4:1314077..1316689-chr4:1338914..1341716,2	MCF-7	breast:
9	chr4:1240371..1243213-chr4:1313028..1314710,2	MCF-7	breast:
10	chr4:1281929..1283740-chr4:1313199..1316127,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159692	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000196810	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181110463	chr4:1314129-1314130	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs555599015	chr4:1314142-1314143	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573941871	chr4:1314146-1314147	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs534740145	chr4:1314156-1314157	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552824386	chr4:1314185-1314186	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs6148273	chr4:1314202-1314203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6851640	chr4:1314226-1314227	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563101573	chr4:1314249-1314250	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs186351928	chr4:1314250-1314251	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542678983	chr4:1314262-1314263	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs560835818	chr4:1314276-1314277	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs113486159	chr4:1314290-1314291	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528074237	chr4:1314292-1314293	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs202020548	chr4:1314295-1314296	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs189341402	chr4:1314308-1314309	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs560086828	chr4:1314320-1314321	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs533713706	chr4:1314341-1314342	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs6826688	chr4:1314342-1314343	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs180914353	chr4:1314346-1314347	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs4974548	chr4:1314353-1314354	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs111755291	chr4:1314360-1314361	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs111234052	chr4:1314367-1314368	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201504035	chr4:1314378-1314379	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs200949202	chr4:1314382-1314383	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549439794	chr4:1314385-1314386	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs187298739	chr4:1314390-1314391	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs535014200	chr4:1314400-1314401	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs549535531	chr4:1314403-1314404	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs576471673	chr4:1314409-1314410	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs190997464	chr4:1314414-1314415	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs182878368	chr4:1314416-1314417	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs151082286	chr4:1314427-1314428	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs4974599	chr4:1314430-1314431	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs376783636	chr4:1314432-1314433	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs370714151	chr4:1314443-1314444	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs541112228	chr4:1314447-1314448	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs542492808	chr4:1314485-1314486	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs117462034	chr4:1314506-1314507	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs535693473	chr4:1314524-1314525	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs572900840	chr4:1314555-1314556	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs540216466	chr4:1314558-1314559	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs59077405	chr4:1314599-1314600	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs190542374	chr4:1314616-1314617	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs200280264	chr4:1314626-1314627	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs564002922	chr4:1314637-1314638	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs183083521	chr4:1314656-1314657	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549357420	chr4:1314679-1314680	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs567737918	chr4:1314704-1314705	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs188073788	chr4:1314744-1314745	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546690992	chr4:1314747-1314748	Weak transcription Strong transcription ZNF genes & repeats	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1304400-1317200	Weak transcription	HSMMtube	muscle
3	chr4:1304400-1317400	Weak transcription	Fetal Brain Male	brain
4	chr4:1305000-1314800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:1305000-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:1305200-1314200	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:1305200-1314600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:1305200-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
12	chr4:1305400-1316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:1305800-1314200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:1305800-1317400	Weak transcription	Right Atrium	heart
15	chr4:1306000-1314200	Strong transcription	Rectal Smooth Muscle	rectum
16	chr4:1306000-1323400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr4:1306200-1322200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:1306400-1315200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:1308800-1321200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:1309400-1317000	Weak transcription	NH-A	brain
22	chr4:1310400-1316400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:1310600-1317400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:1310600-1321400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:1310800-1321800	Strong transcription	Primary T cells from cord blood	blood
26	chr4:1310800-1323200	Weak transcription	Psoas Muscle	Psoas
27	chr4:1311200-1321000	Weak transcription	Small Intestine	intestine
28	chr4:1311400-1314400	Strong transcription	HSMM	muscle
29	chr4:1311800-1321000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:1311800-1322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:1312200-1317000	Weak transcription	Stomach Mucosa	stomach
32	chr4:1312200-1321800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:1312600-1316200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:1312800-1315400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:1312800-1315400	Weak transcription	Ovary	ovary
36	chr4:1312800-1315400	Weak transcription	NHLF	lung
37	chr4:1312800-1317000	Weak transcription	HUVEC	blood vessel
38	chr4:1312800-1317200	Weak transcription	NHDF-Ad	bronchial
39	chr4:1312800-1317400	Weak transcription	Brain Substantia Nigra	brain
40	chr4:1313000-1315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:1313000-1315400	Weak transcription	Pancreas	Pancrea
42	chr4:1313000-1315600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:1313000-1315600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:1313000-1317400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:1313000-1318800	Weak transcription	Aorta	Aorta
46	chr4:1313200-1314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:1313200-1314600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:1313200-1315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:1313200-1316000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:1313200-1316000	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links