Variant report

Variant	rs12580910
Chromosome Location	chr12:122109341-122109342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122106004..122108217-chr12:122108294..122110534,2	MCF-7	breast:
2	chr12:121986936..121988892-chr12:122109089..122111571,2	MCF-7	breast:
3	chr12:121974913..121976672-chr12:122108817..122110319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139714	Chromatin interaction
ENSG00000089094	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834237	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835830	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578883	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12579896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55642824	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918170	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135040	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299610	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309634	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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
2	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:122097400-122110000	Weak transcription	Esophagus	oesophagus
5	chr12:122097400-122110000	Weak transcription	Right Atrium	heart
6	chr12:122097800-122109400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:122102400-122109800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:122102600-122109800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:122102600-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:122102800-122109400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:122102800-122110000	Weak transcription	Thymus	Thymus
12	chr12:122102800-122110000	Weak transcription	Spleen	Spleen
13	chr12:122103000-122109600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:122103000-122109800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122103000-122109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:122103000-122109800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:122103000-122110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:122103200-122109400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:122103200-122109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122103200-122109800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:122103200-122110000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122103200-122116000	Weak transcription	K562	blood
23	chr12:122104000-122109400	Weak transcription	Dnd41	blood
24	chr12:122104800-122109400	Weak transcription	Primary B cells from cord blood	blood
25	chr12:122104800-122109400	Weak transcription	GM12878-XiMat	blood
26	chr12:122105000-122109800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:122105400-122109400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:122106000-122110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:122106800-122110000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:122106800-122110000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:122107000-122109400	Weak transcription	Primary T cells from cord blood	blood
32	chr12:122107000-122109400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:122107000-122109600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:122107000-122109600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:122107000-122109800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:122107000-122109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122107000-122109800	Weak transcription	Fetal Brain Female	brain
38	chr12:122107000-122110000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:122107200-122109400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:122107200-122109400	Weak transcription	Fetal Thymus	thymus
41	chr12:122107200-122109800	Weak transcription	Fetal Stomach	stomach
42	chr12:122107200-122110000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:122107400-122109400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:122107400-122109600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:122107400-122109800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:122107400-122110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:122107600-122109400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:122107600-122109400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:122107600-122109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:122107600-122109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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