Variant report

Variant	rs775247
Chromosome Location	chr12:57975570-57975571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57975136..57977432-chr12:58144177..58146349,2	K562	blood:

Variant related genes	Relation type
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1669300	1.00[LWK][hapmap]
rs474058	1.00[AMR][1000 genomes]
rs511225	1.00[LWK][hapmap]
rs527226	1.00[AMR][1000 genomes]
rs532993	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs537161	1.00[AMR][1000 genomes]
rs569092	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs61935704	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv725	chr12:57966549-57993808	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57956600-57980600	Strong transcription	Brain Germinal Matrix	brain
2	chr12:57957000-57980800	Strong transcription	Fetal Brain Female	brain
3	chr12:57957200-57979200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:57961000-57982000	Weak transcription	Right Atrium	heart
5	chr12:57962200-57978200	Weak transcription	Spleen	Spleen
6	chr12:57962600-57977000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:57963800-57976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:57964400-57984400	Weak transcription	Pancreas	Pancrea
9	chr12:57966400-57984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:57966600-57984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:57966600-57984600	Weak transcription	Gastric	stomach
12	chr12:57966800-57984400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:57967200-57982000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57967800-57975800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:57968400-57976000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:57968400-57976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:57968400-57977000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:57968400-57977000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:57968400-57977000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr12:57968600-57976000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:57968600-57976200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:57968800-57977000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:57968800-57977000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:57968800-57977200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr12:57969000-57975800	Strong transcription	Brain Angular Gyrus	brain
26	chr12:57969000-57976000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:57969000-57978600	Strong transcription	K562	blood
28	chr12:57970000-57975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:57970600-57984200	Weak transcription	Fetal Brain Male	brain
30	chr12:57971600-57978200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:57971800-57975800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:57972200-57984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:57972200-57984400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:57972600-57980800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:57974000-57976600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:57974400-57975800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:57974600-57975800	Strong transcription	Aorta	Aorta
38	chr12:57974800-57976000	Genic enhancers	HepG2	liver
39	chr12:57974800-57976800	Strong transcription	Brain Anterior Caudate	brain
40	chr12:57975200-57975600	Strong transcription	Brain Substantia Nigra	brain
41	chr12:57975200-57975800	Strong transcription	Brain Hippocampus Middle	brain

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