Variant report

Variant	rs12581376
Chromosome Location	chr12:105082362-105082363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105080176..105082660-chr12:105088198..105091066,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12579373	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12581735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12581769	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56176681	0.97[ASN][1000 genomes]
rs58731514	1.00[ASN][1000 genomes]
rs703664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs703667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs703671	0.88[ASN][1000 genomes]
rs703672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs703677	0.88[ASN][1000 genomes]
rs703678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73390104	0.97[ASN][1000 genomes]
rs7954613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7964130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs861345	0.88[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:105075000-105083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:105076800-105083600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:105076800-105085600	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:105076800-105086800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:105077000-105082600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:105077000-105082600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:105077000-105088600	Weak transcription	Lung	lung
15	chr12:105077000-105089000	Weak transcription	Left Ventricle	heart
16	chr12:105078000-105084800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:105078400-105085000	Weak transcription	Spleen	Spleen
18	chr12:105078400-105085400	Weak transcription	Right Atrium	heart
19	chr12:105078600-105083600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:105078800-105082400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:105078800-105082800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:105079000-105088000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:105079200-105085800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:105079400-105082600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:105079400-105085600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:105079800-105082400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:105079800-105086400	Weak transcription	Fetal Brain Female	brain
28	chr12:105079800-105088800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:105080200-105082400	Enhancers	Primary T cells from cord blood	blood
30	chr12:105080200-105083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:105080200-105083400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:105080200-105084000	Enhancers	Primary B cells from cord blood	blood
33	chr12:105080200-105085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:105080200-105087800	Weak transcription	NH-A	brain
35	chr12:105080200-105088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:105080200-105088600	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:105080200-105088800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:105080400-105085600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:105080400-105086000	Weak transcription	A549	lung
40	chr12:105080400-105087800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:105080400-105087800	Weak transcription	NHLF	lung
42	chr12:105080400-105088200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:105080400-105088800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:105080400-105131800	Weak transcription	NHEK	skin
45	chr12:105080800-105083800	Enhancers	Fetal Thymus	thymus
46	chr12:105081000-105088600	Weak transcription	Small Intestine	intestine
47	chr12:105081400-105082800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:105081600-105088400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:105081800-105085600	Weak transcription	Thymus	Thymus
50	chr12:105081800-105086800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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