Variant report

Variant	rs861345
Chromosome Location	chr12:105068309-105068310
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105067366..105069246-chr12:105069344..105071422,3	MCF-7	breast:
2	chr12:104850296..104852857-chr12:105066899..105068579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12579373	0.97[ASN][1000 genomes]
rs12581376	0.88[ASN][1000 genomes]
rs12581735	0.88[ASN][1000 genomes]
rs12581769	0.88[ASN][1000 genomes]
rs56176681	0.91[ASN][1000 genomes]
rs58731514	0.88[ASN][1000 genomes]
rs703664	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703667	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703668	0.83[EUR][1000 genomes]
rs703669	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs703670	0.83[EUR][1000 genomes]
rs703671	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703672	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703673	0.83[EUR][1000 genomes]
rs703674	0.83[EUR][1000 genomes]
rs703675	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs703676	0.83[EUR][1000 genomes]
rs703677	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703678	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703679	0.84[EUR][1000 genomes]
rs73390104	0.91[ASN][1000 genomes]
rs7954613	1.00[ASN][1000 genomes]
rs7964130	0.91[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105060200-105068400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:105062000-105068400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:105062800-105068400	Enhancers	Fetal Heart	heart
4	chr12:105063400-105068600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:105063600-105068400	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:105063800-105068400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:105065400-105076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:105065600-105075400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:105066000-105071200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:105066000-105072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:105066000-105073000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:105066000-105073600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:105066000-105073800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:105066000-105074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:105066000-105074000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:105066200-105070600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:105066200-105070600	Weak transcription	Fetal Brain Male	brain
18	chr12:105066200-105071000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:105066200-105073200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:105066200-105073600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:105066200-105074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:105066200-105074200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:105066400-105074200	Weak transcription	Thymus	Thymus
24	chr12:105066600-105068400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:105066600-105068800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:105066600-105068800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:105066600-105069400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:105066600-105069800	Weak transcription	Primary B cells from cord blood	blood
29	chr12:105066600-105070400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:105066600-105070600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:105066600-105070800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:105066600-105070800	Weak transcription	Esophagus	oesophagus
33	chr12:105066600-105073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:105066600-105073400	Weak transcription	Spleen	Spleen
35	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:105066800-105068400	Enhancers	A549	lung
37	chr12:105066800-105068600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:105066800-105069400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:105066800-105069600	Weak transcription	Lung	lung
40	chr12:105066800-105070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:105066800-105071200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:105066800-105073400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:105067000-105070600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:105067000-105070800	Weak transcription	NHEK	skin
45	chr12:105067200-105071000	Weak transcription	Brain Angular Gyrus	brain
46	chr12:105067400-105070800	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:105067600-105068400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:105067600-105068400	Enhancers	Fetal Kidney	kidney
49	chr12:105067600-105070800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:105067600-105071000	Weak transcription	HMEC	breast

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