Variant report

Variant	rs34439598
Chromosome Location	chr12:76245089-76245090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76216861..76218706-chr12:76245064..76247244,2	MCF-7	breast:
2	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
3	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:
4	chr12:76244859..76247093-chr12:76267194..76270190,2	MCF-7	breast:
5	chr12:76243477..76245855-chr12:76249457..76251726,2	K562	blood:

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10879992	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879993	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180710	0.89[EUR][1000 genomes]
rs11180712	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180713	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180714	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180719	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227868	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230172	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426679	0.88[EUR][1000 genomes]
rs12426691	0.88[EUR][1000 genomes]
rs1463754	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493791	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493794	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493795	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565765	0.89[EUR][1000 genomes]
rs35080799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
3	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
4	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76242000-76245400	Enhancers	NHLF	lung
7	chr12:76242000-76246600	Enhancers	Osteobl	bone
8	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
9	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:76242200-76245200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:76242200-76245800	Enhancers	NHEK	skin
12	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:76243200-76245800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:76243400-76245200	Enhancers	Fetal Lung	lung
15	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:76243800-76246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:76243800-76247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:76244000-76245200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:76244000-76245200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:76244000-76245400	Enhancers	Hela-S3	cervix
21	chr12:76244000-76245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:76244000-76249000	Enhancers	HMEC	breast
23	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:76244200-76245200	Enhancers	Fetal Stomach	stomach
25	chr12:76244200-76246400	Enhancers	NH-A	brain
26	chr12:76244200-76246600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:76244200-76246800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:76244400-76245200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:76244600-76245200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:76244600-76245200	Enhancers	Fetal Kidney	kidney
31	chr12:76244600-76245200	Enhancers	Psoas Muscle	Psoas
32	chr12:76244600-76245200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:76244600-76245400	Enhancers	HepG2	liver
34	chr12:76244600-76245400	Enhancers	HSMM	muscle
35	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:76244800-76245200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:76244800-76246000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:76244800-76247600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:76245000-76246000	Enhancers	A549	lung
40	chr12:76245000-76247000	Weak transcription	Left Ventricle	heart
41	chr12:76245000-76247000	Weak transcription	HSMMtube	muscle
42	chr12:76245000-76247200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:76245000-76247200	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:76245000-76247400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:76245000-76247400	Weak transcription	Ovary	ovary
46	chr12:76245000-76247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:76245000-76247400	Weak transcription	HUVEC	blood vessel
48	chr12:76245000-76247600	Weak transcription	Esophagus	oesophagus
49	chr12:76245000-76248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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