Variant report

Variant	rs4768124
Chromosome Location	chr12:46865137-46865138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46859836..46862512-chr12:46864660..46866357,2	MCF-7	breast:
2	chr12:46854860..46856983-chr12:46864857..46866385,2	K562	blood:
3	chr12:46763940..46766014-chr12:46863555..46865794,3	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10880976	0.82[MEX][hapmap]
rs10880977	0.82[MEX][hapmap]
rs11183519	1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes]
rs12300125	0.82[MEX][hapmap]
rs12301825	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12311952	1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes]
rs12318944	0.96[AMR][1000 genomes]
rs12579010	0.82[AMR][1000 genomes]
rs12579984	0.82[AMR][1000 genomes]
rs12580176	0.80[AMR][1000 genomes]
rs12581743	0.82[AMR][1000 genomes]
rs17097079	0.82[AMR][1000 genomes]
rs17097091	0.81[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs1946174	0.93[AMR][1000 genomes]
rs2408616	0.82[AMR][1000 genomes]
rs2430940	0.82[MEX][hapmap]
rs2471583	0.82[MEX][hapmap]
rs4768126	0.82[AMR][1000 genomes]
rs4768740	0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs58806862	0.82[AMR][1000 genomes]
rs59408501	0.96[AMR][1000 genomes]
rs7132144	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7133051	0.80[AMR][1000 genomes]
rs7136117	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7295471	0.82[MEX][hapmap]
rs7297406	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7310614	0.80[AMR][1000 genomes]
rs7311414	0.80[AMR][1000 genomes]
rs7315740	0.80[AMR][1000 genomes]
rs73282105	0.80[AMR][1000 genomes]
rs73282110	0.80[AMR][1000 genomes]
rs7487359	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7487705	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7976785	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:46853200-46867400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:46854800-46866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46856000-46867800	Weak transcription	Aorta	Aorta
6	chr12:46856200-46866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46856200-46866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:46856200-46868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:46856600-46867400	Weak transcription	Placenta	Placenta
10	chr12:46858800-46867400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:46860000-46866000	Weak transcription	K562	blood
12	chr12:46860000-46866200	Weak transcription	Fetal Intestine Small	intestine
13	chr12:46860200-46867400	Enhancers	Hela-S3	cervix
14	chr12:46860800-46866800	Enhancers	HUVEC	blood vessel
15	chr12:46861200-46867000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:46861400-46866600	Enhancers	A549	lung
17	chr12:46862600-46865200	Weak transcription	NH-A	brain
18	chr12:46863200-46867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:46863400-46867400	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:46863600-46865400	Enhancers	Fetal Heart	heart
21	chr12:46863800-46865400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:46863800-46866600	Enhancers	HepG2	liver
23	chr12:46863800-46866800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:46863800-46867000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:46863800-46867200	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:46863800-46867400	Enhancers	Fetal Lung	lung
27	chr12:46863800-46867600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:46863800-46867600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:46864000-46867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:46864000-46867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:46864000-46867600	Enhancers	NHDF-Ad	bronchial
32	chr12:46864000-46868600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:46864200-46865400	Enhancers	Lung	lung
34	chr12:46864200-46866000	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:46864200-46866400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:46864200-46867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:46864200-46867600	Weak transcription	Thymus	Thymus
38	chr12:46864200-46867800	Enhancers	NHLF	lung
39	chr12:46864200-46877400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:46864400-46865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:46864400-46866200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:46864400-46866800	Weak transcription	Primary B cells from cord blood	blood
43	chr12:46864400-46867200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:46864400-46867200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:46864400-46867400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:46864400-46867400	Weak transcription	Fetal Thymus	thymus
47	chr12:46864400-46867600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:46864400-46877400	Weak transcription	Primary T cells from cord blood	blood
49	chr12:46864600-46865200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:46864600-46865400	Enhancers	Right Ventricle	heart

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