Variant report

Variant	rs1270320
Chromosome Location	chr12:32290092-32290093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32282801..32284501-chr12:32289010..32291503,2	K562	blood:
2	chr12:32289581..32291718-chr12:32293913..32296070,2	K562	blood:
3	chr12:32286132..32287839-chr12:32288847..32291147,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1684140	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:32269000-32340200	Weak transcription	Dnd41	blood
3	chr12:32273600-32292200	Weak transcription	Small Intestine	intestine
4	chr12:32278000-32292200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:32278000-32292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32278400-32292000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:32278800-32291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:32278800-32291800	Weak transcription	HSMM	muscle
9	chr12:32281400-32292200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32284400-32292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:32287000-32292000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:32287400-32290200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:32287400-32292000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:32287600-32290800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:32287600-32292000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:32287600-32292000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:32287600-32292200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:32287600-32292200	Weak transcription	Adipose Nuclei	Adipose
19	chr12:32287600-32292200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:32287600-32292200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:32287600-32292200	Weak transcription	Thymus	Thymus
22	chr12:32287600-32292200	Weak transcription	NHEK	skin
23	chr12:32287600-32292400	Weak transcription	Gastric	stomach
24	chr12:32287600-32312200	Weak transcription	HSMMtube	muscle
25	chr12:32287800-32291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:32287800-32291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:32287800-32291600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:32287800-32291600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:32287800-32291600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:32287800-32291600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:32287800-32291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:32287800-32291600	Weak transcription	Osteobl	bone
33	chr12:32287800-32292000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:32287800-32292000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:32287800-32292000	Weak transcription	Primary T cells from cord blood	blood
36	chr12:32287800-32292000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:32287800-32292000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:32287800-32292000	Weak transcription	Fetal Thymus	thymus
39	chr12:32287800-32292000	Weak transcription	Stomach Mucosa	stomach
40	chr12:32287800-32292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:32287800-32292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:32287800-32292200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:32287800-32292200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:32287800-32292200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:32287800-32292200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:32287800-32292200	Weak transcription	Brain Anterior Caudate	brain
47	chr12:32287800-32292200	Weak transcription	Brain Germinal Matrix	brain
48	chr12:32287800-32292200	Weak transcription	HUVEC	blood vessel
49	chr12:32287800-32292200	Weak transcription	NHLF	lung
50	chr12:32287800-32292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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