Variant report

Variant	rs34098443
Chromosome Location	chr12:46859649-46859650
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46853746..46855838-chr12:46858067..46859819,2	MCF-7	breast:
2	chr12:46851276..46855951-chr12:46856514..46861457,9	K562	blood:
3	chr12:46859540..46862018-chr12:46919142..46921108,2	K562	blood:
4	chr12:46764825..46767515-chr12:46854638..46860372,7	MCF-7	breast:
5	chr12:46854831..46858483-chr12:46859173..46862265,4	MCF-7	breast:
6	chr12:46763112..46768883-chr12:46857331..46862698,8	K562	blood:
7	chr12:46852229..46855814-chr12:46857217..46861777,7	K562	blood:
8	chr12:46764216..46766970-chr12:46858797..46861757,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10467215	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11183500	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830086	1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs12296783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12302091	0.83[ASN][1000 genomes]
rs12317179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12317255	0.97[ASN][1000 genomes]
rs12321960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17096996	1.00[EUR][1000 genomes]
rs17096998	0.93[ASN][1000 genomes]
rs2408578	1.00[EUR][1000 genomes]
rs36010856	0.97[ASN][1000 genomes]
rs3935048	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55649919	1.00[EUR][1000 genomes]
rs58127062	0.94[ASN][1000 genomes]
rs58353248	0.94[ASN][1000 genomes]
rs58890669	0.97[ASN][1000 genomes]
rs59451063	1.00[EUR][1000 genomes]
rs59608605	0.97[ASN][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[EUR][1000 genomes]
rs7136748	1.00[EUR][1000 genomes]
rs7313172	0.90[ASN][1000 genomes]
rs73290315	0.97[ASN][1000 genomes]
rs74085404	1.00[EUR][1000 genomes]
rs74085421	1.00[EUR][1000 genomes]
rs74085432	1.00[EUR][1000 genomes]
rs74085442	1.00[EUR][1000 genomes]
rs74085444	1.00[EUR][1000 genomes]
rs74085447	1.00[EUR][1000 genomes]
rs7953339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7967889	0.97[ASN][1000 genomes]
rs7975472	1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][1000 genomes];0.99[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:39 , 50 per page) page: 1

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	chr12:46850000-46860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:46853200-46867400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:46853800-46862600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:46854200-46860800	Weak transcription	HUVEC	blood vessel
7	chr12:46854800-46864000	Weak transcription	Spleen	Spleen
8	chr12:46854800-46866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:46855000-46860200	Weak transcription	GM12878-XiMat	blood
10	chr12:46855000-46863800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:46855400-46863600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:46855400-46863800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:46855600-46863400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:46855800-46864000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:46856000-46864000	Weak transcription	Right Ventricle	heart
16	chr12:46856000-46864800	Weak transcription	Small Intestine	intestine
17	chr12:46856000-46867800	Weak transcription	Aorta	Aorta
18	chr12:46856200-46859800	Weak transcription	Psoas Muscle	Psoas
19	chr12:46856200-46862000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:46856200-46866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:46856200-46866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:46856200-46868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:46856600-46867400	Weak transcription	Placenta	Placenta
24	chr12:46857000-46860200	Weak transcription	Left Ventricle	heart
25	chr12:46857000-46864000	Weak transcription	NHDF-Ad	bronchial
26	chr12:46857200-46861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:46857200-46861400	Weak transcription	Fetal Heart	heart
28	chr12:46857600-46860200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:46857800-46864800	Weak transcription	Ovary	ovary
30	chr12:46858800-46867400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:46859000-46861200	Enhancers	HepG2	liver
32	chr12:46859000-46863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:46859200-46859800	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr12:46859200-46860000	Enhancers	Fetal Intestine Small	intestine
35	chr12:46859200-46860000	Enhancers	Right Atrium	heart
36	chr12:46859200-46860000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:46859200-46860000	Enhancers	K562	blood
38	chr12:46859600-46861000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:46859600-46862200	Weak transcription	Stomach Mucosa	stomach

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