Variant report

Variant	rs12817910
Chromosome Location	chr12:12426161-12426162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12418815..12421655-chr12:12424332..12429486,6	MCF-7	breast:
2	chr12:12420270..12422598-chr12:12424124..12428048,6	K562	blood:
3	chr12:12418368..12422296-chr12:12423665..12427518,5	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1071994	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10845503	0.86[ASN][1000 genomes]
rs10845506	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11054736	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11054738	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11054741	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11611108	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1181332	0.82[EUR][1000 genomes]
rs1181334	0.82[EUR][1000 genomes]
rs12372237	0.82[EUR][1000 genomes]
rs12816278	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs12820350	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12823867	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34201398	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35172905	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56084505	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7954168	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12421200-12428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:12421400-12426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:12425200-12426600	Enhancers	NHDF-Ad	bronchial
5	chr12:12425600-12426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:12425600-12426400	Enhancers	HSMM	muscle
7	chr12:12425600-12426600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:12425600-12426600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:12425600-12426600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:12425600-12426600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:12425600-12426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:12425600-12426600	Flanking Active TSS	A549	lung
13	chr12:12425600-12426600	Enhancers	NHLF	lung
14	chr12:12425600-12426800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:12425800-12426200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:12425800-12426200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:12425800-12426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:12425800-12426200	Enhancers	Fetal Lung	lung
19	chr12:12425800-12426200	Enhancers	Hela-S3	cervix
20	chr12:12425800-12426400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:12425800-12426400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:12425800-12426400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:12425800-12426600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:12425800-12426600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:12425800-12426600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:12425800-12426600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:12425800-12426600	Enhancers	Fetal Kidney	kidney
28	chr12:12425800-12426600	Enhancers	HMEC	breast
29	chr12:12425800-12426600	Enhancers	NH-A	brain
30	chr12:12425800-12426600	Flanking Active TSS	Osteobl	bone
31	chr12:12425800-12426800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:12425800-12426800	Enhancers	Ovary	ovary
33	chr12:12425800-12427000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:12426000-12426200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:12426000-12426200	Enhancers	Small Intestine	intestine
36	chr12:12426000-12426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:12426000-12426600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:12426000-12426600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:12426000-12426600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:12426000-12426600	Enhancers	HepG2	liver
41	chr12:12426000-12426800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:12426000-12427000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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