Variant report

Variant	rs4432749
Chromosome Location	chr4:6913707-6913708
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6913495..6915954-chr4:7072774..7077001,4	K562	blood:
2	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
3	chr4:6842094..6843915-chr4:6911988..6914915,2	K562	blood:
4	chr4:6716082..6719440-chr4:6909577..6914212,9	MCF-7	breast:
5	chr4:6913191..6915795-chr4:7078179..7080904,2	K562	blood:
6	chr4:6710075..6712844-chr4:6911946..6914714,3	K562	blood:
7	chr4:6913588..6915420-chr4:7049904..7051749,2	K562	blood:
8	chr4:6781457..6785420-chr4:6909700..6913714,6	MCF-7	breast:
9	chr4:6782866..6788328-chr4:6910576..6915466,10	K562	blood:
10	chr4:6726504..6730102-chr4:6912147..6916497,3	K562	blood:
11	chr4:6912685..6914453-chr4:7047994..7050583,2	MCF-7	breast:
12	chr4:6907895..6910630-chr4:6913447..6916196,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186222	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000178988	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10013211	0.90[JPT][hapmap]
rs10015163	0.90[JPT][hapmap]
rs10019900	0.86[JPT][hapmap]
rs10804990	0.95[JPT][hapmap]
rs10937762	0.82[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10937763	0.90[JPT][hapmap]
rs10937768	0.85[JPT][hapmap]
rs11728984	0.86[JPT][hapmap]
rs11732389	0.90[JPT][hapmap]
rs13435015	0.80[JPT][hapmap]
rs17742611	0.85[JPT][hapmap]
rs3857170	0.81[JPT][hapmap]
rs41516949	0.90[JPT][hapmap]
rs4315786	0.90[JPT][hapmap]
rs4346651	0.85[JPT][hapmap]
rs4484301	0.86[JPT][hapmap]
rs4608812	0.83[JPT][hapmap]
rs4689558	0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs4689562	0.86[JPT][hapmap]
rs6446552	0.90[JPT][hapmap]
rs6446553	0.86[JPT][hapmap]
rs6831368	0.85[JPT][hapmap]
rs6848114	0.90[JPT][hapmap]
rs9291121	0.90[JPT][hapmap]
rs9291123	0.90[JPT][hapmap]
rs9790586	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4216	chr4:6876592-6915629	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4432749	LOC100134937	cis	brain	BrainEAC

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912200-6915200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:6912600-6915000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:6912600-6915400	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:6912600-6915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:6912600-6917200	Weak transcription	Small Intestine	intestine
6	chr4:6912600-6918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:6912600-6918000	Weak transcription	HUVEC	blood vessel
8	chr4:6912600-6920000	Weak transcription	HSMM	muscle
9	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:6912800-6913800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:6912800-6913800	Enhancers	Pancreas	Pancrea
12	chr4:6912800-6913800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:6912800-6914600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:6912800-6914800	Enhancers	Spleen	Spleen
15	chr4:6912800-6918000	Weak transcription	HMEC	breast
16	chr4:6912800-6918200	Weak transcription	NH-A	brain
17	chr4:6912800-6918200	Weak transcription	NHEK	skin
18	chr4:6913000-6914200	Weak transcription	Right Atrium	heart
19	chr4:6913000-6914600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:6913000-6914600	Enhancers	Brain Angular Gyrus	brain
21	chr4:6913000-6914600	Enhancers	Left Ventricle	heart
22	chr4:6913000-6915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:6913000-6915400	Enhancers	Thymus	Thymus
24	chr4:6913000-6918200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:6913000-6918200	Weak transcription	Fetal Heart	heart
26	chr4:6913000-6918200	Weak transcription	A549	lung
27	chr4:6913000-6918400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:6913000-6918400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:6913000-6918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr4:6913000-6918400	Weak transcription	Ovary	ovary
31	chr4:6913000-6918400	Weak transcription	HSMMtube	muscle
32	chr4:6913200-6913800	Enhancers	Primary T cells from cord blood	blood
33	chr4:6913200-6913800	Enhancers	Hela-S3	cervix
34	chr4:6913200-6914400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:6913200-6914600	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:6913200-6914600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:6913200-6914600	Enhancers	Brain Substantia Nigra	brain
38	chr4:6913200-6914800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:6913200-6915200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:6913200-6916800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:6913200-6917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:6913200-6917200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:6913200-6917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:6913200-6918200	Weak transcription	Fetal Brain Female	brain
45	chr4:6913200-6919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:6913200-6922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:6913200-6925200	Weak transcription	NHLF	lung
48	chr4:6913400-6913800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:6913400-6913800	Enhancers	Dnd41	blood
50	chr4:6913400-6914200	Weak transcription	Gastric	stomach

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