Variant report

Variant	rs6422330
Chromosome Location	chr5:179002722-179002723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:179002567-179002754	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179001067..179003316-chr5:179026144..179027789,2	MCF-7	breast:
2	chr5:179001446..179003213-chr5:179035112..179037785,2	K562	blood:
3	chr5:178996663..178999644-chr5:179000508..179002723,3	K562	blood:
4	chr5:178976253..178979060-chr5:179002246..179003961,2	K562	blood:
5	chr5:178997303..179000137-chr5:179000501..179003984,3	MCF-7	breast:

No data

Variant related genes	Relation type
RUFY1	TF binding region
ENSG00000176783	Chromatin interaction
ENSG00000249140	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28501545	1.00[AFR][1000 genomes]
rs4515257	0.90[AFR][1000 genomes]
rs4700811	0.91[AFR][1000 genomes]
rs4700815	1.00[AFR][1000 genomes]
rs4700816	1.00[AFR][1000 genomes]
rs4701138	0.91[AFR][1000 genomes]
rs6422329	1.00[AFR][1000 genomes]
rs6886437	0.91[AFR][1000 genomes]
rs7710728	0.91[AFR][1000 genomes]
rs7734940	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
9	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
3	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
5	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178987800-179017000	Strong transcription	Osteobl	bone
10	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:178988000-179004600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:178988200-179003400	Strong transcription	Placenta	Placenta
16	chr5:178988400-179002800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:178988800-179003200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:178989000-179003400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:178989000-179003600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:178989000-179006200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr5:178989000-179006600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:178989000-179010200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:178989200-179006200	Strong transcription	Fetal Thymus	thymus
27	chr5:178989200-179006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:178989400-179003400	Strong transcription	Primary B cells from cord blood	blood
29	chr5:178989400-179006600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:178989600-179006200	Strong transcription	Thymus	Thymus
31	chr5:178989600-179006400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:178991200-179016600	Weak transcription	Stomach Mucosa	stomach
33	chr5:178994200-179006200	Strong transcription	Fetal Brain Female	brain
34	chr5:178994400-179003600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:178995800-179003200	Strong transcription	Left Ventricle	heart
36	chr5:178996200-179006600	Strong transcription	Adipose Nuclei	Adipose
37	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:178996600-179013200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:178996800-179004400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:178997600-179012800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr5:178997600-179020200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:178998400-179007600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:178998400-179012800	Weak transcription	HSMM	muscle
45	chr5:178999400-179012800	Weak transcription	HMEC	breast
46	chr5:178999600-179004800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:178999800-179004200	Weak transcription	Lung	lung
48	chr5:178999800-179004800	Weak transcription	Hela-S3	cervix
49	chr5:178999800-179005000	Weak transcription	NHEK	skin
50	chr5:178999800-179005600	Weak transcription	NHLF	lung

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