Variant report

Variant	rs7139259
Chromosome Location	chr12:12293072-12293073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61212823	1.00[EUR][1000 genomes]
rs61445660	1.00[EUR][1000 genomes]
rs73277470	1.00[EUR][1000 genomes]
rs73277472	1.00[EUR][1000 genomes]
rs74061110	1.00[EUR][1000 genomes]
rs74061119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74061144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12261600-12301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:12262400-12335600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:12263800-12314600	Weak transcription	Esophagus	oesophagus
4	chr12:12264000-12301400	Weak transcription	Right Ventricle	heart
5	chr12:12264400-12311400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:12265600-12303400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:12267800-12301600	Weak transcription	NHLF	lung
8	chr12:12268800-12301600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:12269600-12343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:12271000-12301600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:12271400-12306600	Weak transcription	Small Intestine	intestine
12	chr12:12271600-12294200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:12272200-12344600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:12272400-12325200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:12272600-12305000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:12273600-12301600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:12274600-12313600	Weak transcription	Colonic Mucosa	Colon
18	chr12:12275000-12303400	Weak transcription	GM12878-XiMat	blood
19	chr12:12277400-12306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:12277600-12311600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:12278200-12299200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:12278200-12301400	Weak transcription	Placenta	Placenta
23	chr12:12278200-12310600	Weak transcription	Hela-S3	cervix
24	chr12:12279200-12294200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:12279200-12299000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:12279600-12301400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:12279800-12294000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:12279800-12300000	Weak transcription	HUVEC	blood vessel
29	chr12:12279800-12303600	Weak transcription	Fetal Brain Male	brain
30	chr12:12279800-12311000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:12279800-12311000	Weak transcription	HMEC	breast
32	chr12:12279800-12311600	Weak transcription	Dnd41	blood
33	chr12:12279800-12313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:12279800-12342800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:12280000-12299200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:12280000-12301600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:12280000-12301600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:12280000-12302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:12280000-12303400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:12280400-12299600	Weak transcription	Osteobl	bone
41	chr12:12280600-12300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:12280600-12301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:12281400-12301600	Weak transcription	Left Ventricle	heart
44	chr12:12281800-12335600	Weak transcription	Psoas Muscle	Psoas
45	chr12:12282400-12298800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:12282400-12299000	Weak transcription	Adipose Nuclei	Adipose
47	chr12:12282400-12299200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:12282400-12300000	Weak transcription	Primary T cells from cord blood	blood
49	chr12:12283000-12299400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:12283200-12303400	Weak transcription	HSMM	muscle

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