Variant report

Variant	rs316406
Chromosome Location	chr5:43069923-43069924
allele	C/T
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:6)
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	ZNF384	chr5:43069685-43069944	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
2	chr5:43068379..43069957-chr5:43079642..43081288,2	K562	blood:
3	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
4	chr5:43067084..43070080-chr5:43601534..43603658,2	K562	blood:
5	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
6	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177738	TF binding region
ENSG00000177721	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1574407	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs178415	0.89[ASN][1000 genomes]
rs2603295	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2603636	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs316396	0.84[ASN][1000 genomes]
rs316400	0.87[ASN][1000 genomes]
rs316402	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs316403	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs316404	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs316408	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs316413	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs515970	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs543569	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs565761	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs316406	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43067800-43071200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:43068000-43070000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:43068000-43077600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:43068200-43074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:43068400-43070800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:43068600-43070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:43068600-43070400	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr5:43068600-43070600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:43068600-43071200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:43068600-43071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:43068600-43082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:43068800-43070000	Genic enhancers	Fetal Thymus	thymus
13	chr5:43068800-43070200	Genic enhancers	Fetal Intestine Small	intestine
14	chr5:43068800-43070200	Weak transcription	A549	lung
15	chr5:43068800-43070400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:43068800-43070400	Enhancers	Fetal Brain Male	brain
17	chr5:43068800-43070800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:43068800-43070800	Weak transcription	Esophagus	oesophagus
19	chr5:43068800-43070800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:43068800-43071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:43068800-43071000	Weak transcription	Aorta	Aorta
22	chr5:43069000-43070200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:43069000-43070200	Enhancers	Psoas Muscle	Psoas
24	chr5:43069000-43070200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:43069000-43070600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:43069000-43070800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:43069000-43070800	Weak transcription	Fetal Kidney	kidney
28	chr5:43069000-43071000	Weak transcription	Gastric	stomach
29	chr5:43069000-43081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:43069200-43070200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:43069200-43070200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:43069200-43070200	Genic enhancers	HMEC	breast
33	chr5:43069200-43070200	Weak transcription	K562	blood
34	chr5:43069200-43070600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:43069200-43070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:43069200-43070800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:43069200-43070800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:43069200-43070800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:43069200-43071800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:43069200-43071800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr5:43069200-43074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:43069400-43070000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:43069400-43070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:43069400-43070000	Weak transcription	Thymus	Thymus
45	chr5:43069400-43070000	Enhancers	HSMMtube	muscle
46	chr5:43069400-43070200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:43069400-43070200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:43069400-43070200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:43069400-43070200	Weak transcription	Fetal Intestine Large	intestine
50	chr5:43069400-43070200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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