Variant report

Variant	rs180305
Chromosome Location	chr12:117164747-117164748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117164025..117165586-chr12:117537038..117539344,2	K562	blood:
2	chr12:117151206..117153398-chr12:117162131..117164765,2	K562	blood:
3	chr12:117159604..117161644-chr12:117164288..117165947,2	MCF-7	breast:
4	chr12:117164651..117166195-chr12:117167203..117169906,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

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

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

rs_ID	r²[population]
rs10850707	1.00[CHB][hapmap]
rs11068163	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11068167	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11836095	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532395	1.00[CHB][hapmap]
rs1566018	1.00[ASN][1000 genomes]
rs180304	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339452	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339454	1.00[CHB][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339456	1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339458	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339459	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300541	1.00[CHB][hapmap]
rs7312638	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117147400-117173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:117149400-117174000	Weak transcription	K562	blood
4	chr12:117150800-117172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:117154800-117170600	Weak transcription	Hela-S3	cervix
6	chr12:117156200-117165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:117157200-117170600	Weak transcription	NHDF-Ad	bronchial
8	chr12:117157200-117170600	Weak transcription	Osteobl	bone
9	chr12:117157800-117174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:117158000-117170600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:117158200-117164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:117158200-117172000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:117158200-117172000	Weak transcription	NH-A	brain
14	chr12:117158400-117165000	Weak transcription	Fetal Brain Female	brain
15	chr12:117158400-117172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117158400-117174000	Weak transcription	Psoas Muscle	Psoas
17	chr12:117158400-117174600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:117158600-117164800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:117158600-117172000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:117158600-117172600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:117158600-117174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:117158600-117174400	Weak transcription	Esophagus	oesophagus
23	chr12:117159000-117172000	Weak transcription	HMEC	breast
24	chr12:117159000-117174000	Weak transcription	Fetal Brain Male	brain
25	chr12:117159200-117169000	Weak transcription	Fetal Stomach	stomach
26	chr12:117159200-117169200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:117159200-117174000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:117159400-117165200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:117159800-117172000	Weak transcription	HSMMtube	muscle
30	chr12:117159800-117172200	Weak transcription	NHLF	lung
31	chr12:117160000-117166200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:117160000-117174000	Weak transcription	Colonic Mucosa	Colon
33	chr12:117160200-117172200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:117160800-117164800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:117160800-117170600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:117161000-117165800	Weak transcription	Thymus	Thymus
37	chr12:117161000-117166000	Weak transcription	Spleen	Spleen
38	chr12:117161000-117166200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:117161000-117167000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:117161000-117169000	Weak transcription	Lung	lung
41	chr12:117161000-117169200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:117161000-117169400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:117161000-117169800	Weak transcription	Placenta	Placenta
44	chr12:117161000-117170400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:117161000-117170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:117161000-117170600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:117161000-117170600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:117161000-117170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:117161000-117170600	Weak transcription	Dnd41	blood
50	chr12:117161000-117170600	Weak transcription	GM12878-XiMat	blood

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