Variant report

Variant	rs12579373
Chromosome Location	chr12:105071415-105071416
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105064637..105067234-chr12:105069243..105072797,3	MCF-7	breast:
2	chr12:105071012..105073165-chr12:105077860..105080234,2	MCF-7	breast:
3	chr12:105067366..105069246-chr12:105069344..105071422,3	MCF-7	breast:
4	chr12:105061726..105063507-chr12:105070074..105072816,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12581376	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12581735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581769	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17036293	1.00[AFR][1000 genomes]
rs56176681	0.88[ASN][1000 genomes]
rs58731514	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703664	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs703667	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs703671	0.97[ASN][1000 genomes]
rs703672	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs703677	0.97[ASN][1000 genomes]
rs703678	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73187417	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73390104	0.88[ASN][1000 genomes]
rs7954613	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7964130	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861345	0.97[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105065400-105076000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:105065600-105075400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:105066000-105072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:105066000-105073000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:105066000-105073600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:105066000-105073800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:105066000-105074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:105066000-105074000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:105066200-105073200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:105066200-105073600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:105066200-105074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:105066200-105074200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:105066400-105074200	Weak transcription	Thymus	Thymus
14	chr12:105066600-105073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:105066600-105073400	Weak transcription	Spleen	Spleen
16	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:105066800-105073400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:105067600-105076400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:105067800-105071600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:105067800-105073600	Weak transcription	Fetal Thymus	thymus
21	chr12:105067800-105076200	Weak transcription	Right Ventricle	heart
22	chr12:105067800-105076600	Weak transcription	Left Ventricle	heart
23	chr12:105067800-105078600	Weak transcription	Brain Substantia Nigra	brain
24	chr12:105067800-105096000	Weak transcription	K562	blood
25	chr12:105068000-105072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:105068000-105073000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:105068000-105073800	Weak transcription	HSMMtube	muscle
28	chr12:105068000-105076000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:105068000-105077600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:105068200-105074000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:105068200-105078600	Weak transcription	NHDF-Ad	bronchial
32	chr12:105068400-105073400	Weak transcription	A549	lung
33	chr12:105068400-105076200	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:105069200-105073800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:105069400-105072200	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:105069400-105074200	Genic enhancers	Dnd41	blood
37	chr12:105069400-105076400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:105069800-105071800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:105069800-105074600	Enhancers	Placenta	Placenta
40	chr12:105070000-105073000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:105070200-105071600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:105070200-105071800	Enhancers	Fetal Muscle Trunk	muscle
43	chr12:105070400-105071600	Enhancers	Fetal Muscle Leg	muscle
44	chr12:105070600-105071600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:105070600-105071800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:105070600-105071800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:105070600-105071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:105070600-105071800	Enhancers	Fetal Heart	heart
49	chr12:105070600-105071800	Enhancers	Gastric	stomach
50	chr12:105070600-105071800	Enhancers	Right Atrium	heart

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