Variant report

Variant	rs12315319
Chromosome Location	chr12:123070934-123070935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123067260..123069084-chr12:123070709..123072240,2	MCF-7	breast:
2	chr12:123004549..123007119-chr12:123070735..123073500,2	K562	blood:

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11058715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11058774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11058777	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11059272	1.00[AMR][1000 genomes]
rs12296637	0.89[AFR][1000 genomes]
rs12299649	1.00[AMR][1000 genomes]
rs12303819	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309203	1.00[AMR][1000 genomes]
rs12314476	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317520	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318097	1.00[AMR][1000 genomes]
rs13377981	0.89[ASW][hapmap]
rs7956493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980040	0.97[AFR][1000 genomes];1.00[AMR][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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
3	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv983478	chr12:123062133-123080307	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
8	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
13	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:123015600-123115000	Strong transcription	Dnd41	blood
18	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
20	chr12:123026000-123076400	Weak transcription	Gastric	stomach
21	chr12:123026000-123081000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:123036400-123074200	Weak transcription	Fetal Brain Male	brain
26	chr12:123037200-123113000	Weak transcription	Brain Anterior Caudate	brain
27	chr12:123037600-123095400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:123037800-123100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
30	chr12:123042600-123107200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:123042800-123080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123046400-123073400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:123046400-123084800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:123047200-123080600	Strong transcription	Fetal Thymus	thymus
36	chr12:123047800-123078800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:123050600-123073000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:123050800-123112600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:123051000-123072800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr12:123052400-123080200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:123052600-123079600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:123053600-123076000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:123053800-123072600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:123056000-123073200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:123056800-123073200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:123057400-123073400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:123057400-123076400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:123057400-123084400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:123057600-123076000	Strong transcription	GM12878-XiMat	blood

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