Variant report

Variant	rs12411105
Chromosome Location	chr1:180971327-180971328
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180969884..180971674-chr1:181062380..181065225,2	MCF-7	breast:
2	chr1:180970309..180972031-chr1:181057368..181059021,2	MCF-7	breast:
3	chr1:180969304..180971404-chr1:180988525..180991376,2	K562	blood:
4	chr1:180970142..180972155-chr1:180990545..180993018,2	MCF-7	breast:
5	chr1:180957764..180960109-chr1:180968971..180971786,3	K562	blood:
6	chr1:180970472..180977735-chr1:180989614..180993655,8	MCF-7	breast:
7	chr1:180970620..180972519-chr1:180973045..180976019,2	K562	blood:
8	chr1:180970943..180973873-chr1:181056129..181057947,2	MCF-7	breast:
9	chr1:180958399..180960109-chr1:180968971..180971786,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162783	Chromatin interaction
ENSG00000135823	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10797664	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910848	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910849	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910850	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073184	0.83[AMR][1000 genomes]
rs12565758	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331992	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672928	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930261	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545301	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180933400-180974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:180943600-180972000	Weak transcription	Psoas Muscle	Psoas
4	chr1:180943600-180979800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:180945400-180975000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:180945600-180974800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:180952200-180974800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:180956600-180973200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180958000-180972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:180958000-180972000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:180958000-180973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:180959000-180975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:180959200-180972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:180959200-180990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:180959400-180973200	Weak transcription	Aorta	Aorta
16	chr1:180959600-180971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:180959600-180973000	Weak transcription	Small Intestine	intestine
18	chr1:180959800-180979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:180960200-180972000	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:180960600-180972200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:180960600-180973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:180960600-180985200	Weak transcription	Stomach Mucosa	stomach
23	chr1:180960800-180971800	Weak transcription	Right Ventricle	heart
24	chr1:180960800-180973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:180960800-180979800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:180961000-180973000	Weak transcription	Spleen	Spleen
27	chr1:180961000-180973400	Weak transcription	Colonic Mucosa	Colon
28	chr1:180961400-180979800	Weak transcription	NH-A	brain
29	chr1:180961600-180973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:180962400-180972000	Weak transcription	Placenta	Placenta
31	chr1:180962600-180971400	Weak transcription	Fetal Kidney	kidney
32	chr1:180963000-180971600	Weak transcription	Brain Substantia Nigra	brain
33	chr1:180963800-180971600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:180963800-180971600	Weak transcription	A549	lung
35	chr1:180963800-180971800	Weak transcription	Esophagus	oesophagus
36	chr1:180963800-180972600	Weak transcription	Left Ventricle	heart
37	chr1:180963800-180973200	Weak transcription	Gastric	stomach
38	chr1:180963800-180973200	Weak transcription	Pancreas	Pancrea
39	chr1:180964000-180980400	Weak transcription	Fetal Heart	heart
40	chr1:180964400-180975200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:180965000-180974800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:180965200-180973200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:180965600-180974600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:180965600-180975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:180966200-180971800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:180966400-180974600	Strong transcription	GM12878-XiMat	blood
47	chr1:180967000-180975000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:180967000-180975200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:180967400-180975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:180967400-180975000	Strong transcription	Dnd41	blood

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