Variant report

Variant	rs12580532
Chromosome Location	chr12:104518569-104518570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:104518487-104518628	NB4	blood:	n/a	chr12:104518535-104518545
2	CTCF	chr12:104518527-104518571	Fibrobl	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104515373..104518868-chr12:104529903..104532012,3	K562	blood:
2	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
3	chr12:104513649..104515856-chr12:104516374..104518763,2	MCF-7	breast:
4	chr12:104515821..104520913-chr12:104521669..104524751,4	K562	blood:

Variant related genes	Relation type
RNA5SP370	TF binding region
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861157	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111888	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11111892	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111900	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580691	0.94[ASN][1000 genomes]
rs1485591	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272477	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34011860	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34071758	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35223676	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35879815	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3763999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964531	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539123	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7133289	0.93[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958015	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979123	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
3	esv1816017	chr12:104510676-104531860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
2	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104494400-104521000	Weak transcription	Lung	lung
6	chr12:104494400-104521200	Weak transcription	Aorta	Aorta
7	chr12:104494400-104522600	Weak transcription	Spleen	Spleen
8	chr12:104495600-104530800	Weak transcription	Esophagus	oesophagus
9	chr12:104497000-104524600	Weak transcription	Pancreas	Pancrea
10	chr12:104501200-104519000	Weak transcription	K562	blood
11	chr12:104502800-104526200	Weak transcription	Psoas Muscle	Psoas
12	chr12:104503200-104519800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:104507200-104528000	Strong transcription	Placenta	Placenta
14	chr12:104508000-104527000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:104508000-104528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:104508200-104525000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:104508200-104525400	Strong transcription	Dnd41	blood
18	chr12:104508200-104525600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:104508200-104526200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:104508200-104526800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:104508200-104529200	Strong transcription	Fetal Thymus	thymus
22	chr12:104508400-104528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:104508600-104529000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:104508800-104519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:104509000-104528600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:104509600-104527000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:104509800-104528600	Weak transcription	Small Intestine	intestine
28	chr12:104510000-104521600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:104510000-104524600	Weak transcription	Fetal Brain Male	brain
30	chr12:104510000-104524600	Weak transcription	Stomach Mucosa	stomach
31	chr12:104510200-104526000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:104510600-104524000	Strong transcription	Adipose Nuclei	Adipose
33	chr12:104510600-104524600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104510600-104527000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:104510800-104527200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:104510800-104528600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:104511000-104520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:104511200-104523600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:104511400-104525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:104511600-104523200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:104512600-104522600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:104513000-104518800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:104513000-104519400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:104513400-104524400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:104513400-104526200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:104513800-104524200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:104513800-104527400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:104513800-104528200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:104514000-104523000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:104514000-104524400	Strong transcription	Fetal Lung	lung

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