Variant report

Variant	rs890697
Chromosome Location	chr12:30951029-30951030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30906304..30909589-chr12:30948532..30951386,3	K562	blood:
2	chr12:30949301..30951122-chr12:30954767..30957062,2	MCF-7	breast:
3	chr12:30949838..30951631-chr12:30954389..30956016,2	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11051079	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34358138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30949600-30952200	Weak transcription	HepG2	liver
2	chr12:30950200-30954600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30950200-30956400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:30950200-30956600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:30950200-30960200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:30950200-30960200	Weak transcription	Pancreas	Pancrea
7	chr12:30950400-30951200	Weak transcription	HSMM	muscle
8	chr12:30950400-30951200	Weak transcription	Osteobl	bone
9	chr12:30950400-30951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:30950400-30951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:30950400-30952600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:30950400-30952800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:30950400-30952800	Weak transcription	A549	lung
14	chr12:30950400-30953000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:30950400-30953000	Weak transcription	HMEC	breast
16	chr12:30950400-30954600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:30950400-30954600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:30950400-30957000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:30950400-30957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:30950400-30960000	Weak transcription	HUVEC	blood vessel
21	chr12:30950400-30960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:30950400-30960200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:30950400-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:30950800-30951200	Genic enhancers	Hela-S3	cervix
25	chr12:30950800-30951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:30950800-30952400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:30950800-30952600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:30950800-30954600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:30950800-30955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:30950800-30957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:30950800-30957000	Weak transcription	NHEK	skin
32	chr12:30950800-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:30951000-30951800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:30951000-30951800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:30951000-30956400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:30951000-30956600	Strong transcription	NH-A	brain

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