Variant report

Variant	rs4313820
Chromosome Location	chr16:31480318-31480319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31479886..31481499-chr16:31482426..31484277,2	MCF-7	breast:
2	chr16:31479635..31481245-chr16:31488025..31490096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140682	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10596	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150624	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1135265	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11643752	0.80[AFR][1000 genomes]
rs11646054	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11646911	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12920273	0.81[ASN][1000 genomes]
rs12923122	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12930621	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35884660	0.81[ASN][1000 genomes]
rs4243237	0.81[ASN][1000 genomes]
rs4597343	0.81[ASN][1000 genomes]
rs4889661	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889664	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889666	0.81[ASN][1000 genomes]
rs7201796	0.81[ASN][1000 genomes]
rs7206531	0.81[ASN][1000 genomes]
rs8050563	0.81[ASN][1000 genomes]
rs8050712	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
9	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
10	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31471000-31482600	Weak transcription	Small Intestine	intestine
2	chr16:31471800-31483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31472000-31480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:31472000-31481800	Weak transcription	NHDF-Ad	bronchial
5	chr16:31472000-31482000	Weak transcription	Fetal Heart	heart
6	chr16:31472000-31482400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:31472000-31482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:31472000-31482600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:31472000-31482600	Weak transcription	Stomach Mucosa	stomach
10	chr16:31472600-31482600	Weak transcription	Fetal Brain Male	brain
11	chr16:31472600-31483000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:31472800-31482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:31472800-31482400	Weak transcription	Hela-S3	cervix
14	chr16:31472800-31482400	Weak transcription	HMEC	breast
15	chr16:31472800-31482400	Weak transcription	HSMM	muscle
16	chr16:31475200-31482600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:31475200-31482600	Weak transcription	Fetal Kidney	kidney
18	chr16:31475400-31482000	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:31475400-31482200	Weak transcription	Fetal Lung	lung
20	chr16:31475800-31482400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:31476200-31482800	Weak transcription	Psoas Muscle	Psoas
22	chr16:31476400-31481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:31476600-31482400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:31476600-31482400	Weak transcription	Primary T cells from cord blood	blood
25	chr16:31476800-31482600	Weak transcription	Brain Angular Gyrus	brain
26	chr16:31477200-31482400	Weak transcription	HUVEC	blood vessel
27	chr16:31477400-31481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:31477400-31482400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr16:31477400-31482400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:31477400-31482400	Weak transcription	HSMMtube	muscle
31	chr16:31477600-31482400	Weak transcription	HepG2	liver
32	chr16:31477600-31482600	Weak transcription	NHEK	skin
33	chr16:31477800-31480400	Enhancers	Dnd41	blood
34	chr16:31477800-31482400	Weak transcription	Fetal Intestine Large	intestine
35	chr16:31477800-31483600	Weak transcription	Brain Substantia Nigra	brain
36	chr16:31478200-31482200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:31478400-31482400	Weak transcription	Left Ventricle	heart
38	chr16:31478400-31482400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:31478400-31482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:31478600-31482200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:31478600-31482200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr16:31478600-31482200	Weak transcription	Aorta	Aorta
43	chr16:31478600-31482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:31478600-31482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:31478600-31482600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:31478800-31482000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:31478800-31482000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:31478800-31482000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:31478800-31482400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:31478800-31482400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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