Variant report

Variant	rs714480
Chromosome Location	chr12:12552382-12552383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12550932..12553792-chr12:12558043..12559658,2	K562	blood:
2	chr12:12550258..12553161-chr12:12554299..12558157,3	MCF-7	breast:
3	chr12:12546053..12553032-chr12:12712110..12718542,11	MCF-7	breast:
4	chr12:12551360..12553535-chr12:12553854..12557038,3	MCF-7	breast:
5	chr12:12551031..12553032-chr12:12674320..12676066,2	MCF-7	breast:
6	chr12:12550464..12553838-chr12:12621141..12625480,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11831188	1.00[ASN][1000 genomes]
rs11831555	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908006	1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908019	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312912	1.00[JPT][hapmap]
rs1861674	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2193270	0.95[AFR][1000 genomes]
rs4763288	1.00[JPT][hapmap]
rs4763289	1.00[JPT][hapmap]
rs4763824	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763827	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763831	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	1.00[ASN][1000 genomes]
rs60363317	1.00[ASN][1000 genomes]
rs60971404	1.00[ASN][1000 genomes]
rs6488521	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488523	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488524	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488527	1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7134787	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7306292	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73287587	1.00[ASN][1000 genomes]
rs7957014	1.00[ASN][1000 genomes]
rs7973069	1.00[ASN][1000 genomes]
rs7975061	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7978842	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs888198	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:12526400-12558800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:12532800-12556400	Weak transcription	Spleen	Spleen
4	chr12:12533400-12555800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:12533600-12555400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:12535400-12561400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:12537200-12576000	Weak transcription	Primary B cells from cord blood	blood
8	chr12:12538400-12552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:12538400-12555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:12538400-12556200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:12538600-12561800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:12540200-12560600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:12540600-12556200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:12540800-12553800	Weak transcription	GM12878-XiMat	blood
15	chr12:12540800-12555400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:12541400-12552600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:12541400-12562800	Weak transcription	Psoas Muscle	Psoas
18	chr12:12541800-12557200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:12543000-12558800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12545800-12555200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:12545800-12555200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:12546000-12553200	Weak transcription	Right Atrium	heart
23	chr12:12546000-12556400	Weak transcription	K562	blood
24	chr12:12547200-12556000	Weak transcription	Fetal Thymus	thymus
25	chr12:12547600-12553400	Enhancers	Brain Substantia Nigra	brain
26	chr12:12547600-12555400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:12548600-12553400	Enhancers	Brain Anterior Caudate	brain
28	chr12:12548600-12553400	Enhancers	Brain Hippocampus Middle	brain
29	chr12:12548600-12554200	Enhancers	HepG2	liver
30	chr12:12549200-12552400	Enhancers	NHLF	lung
31	chr12:12549200-12553400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:12549200-12553400	Enhancers	Fetal Lung	lung
33	chr12:12549600-12553200	Weak transcription	Ovary	ovary
34	chr12:12549800-12553400	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:12550000-12553400	Enhancers	NHDF-Ad	bronchial
36	chr12:12550000-12556000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:12550000-12556400	Weak transcription	Thymus	Thymus
38	chr12:12550200-12552400	Enhancers	HMEC	breast
39	chr12:12550200-12552600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:12550200-12553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:12550400-12556200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:12550600-12553400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:12550600-12553400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:12550600-12554200	Enhancers	Liver	Liver
45	chr12:12551000-12553000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:12551000-12553200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:12551000-12553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:12551000-12555800	Weak transcription	Primary T cells from cord blood	blood
49	chr12:12551000-12559000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:12551200-12552800	Enhancers	HUES48 Cell Line	embryonic stem cell

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