Variant report

Variant	rs12318001
Chromosome Location	chr12:104974951-104974952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104970339..104972432-chr12:104974427..104977071,2	K562	blood:
2	chr12:104897397..104899517-chr12:104972120..104975034,2	K562	blood:
3	chr12:104974220..104976063-chr12:104977911..104980754,2	MCF-7	breast:
4	chr12:104973001..104975710-chr12:104978478..104980869,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10450734	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11112122	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs12316446	0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs17035879	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7315708	0.88[ASW][hapmap];0.90[CEU][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
3	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
4	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
5	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:104969000-104977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:104969000-104978000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104970000-104977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:104970200-104975400	Weak transcription	Thymus	Thymus
11	chr12:104970400-104975000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:104970400-104978400	Enhancers	Fetal Thymus	thymus
13	chr12:104971000-104990600	Weak transcription	Lung	lung
14	chr12:104971200-104976200	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:104971400-104977000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:104971400-104979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:104971600-104976000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:104971600-104982200	Weak transcription	Right Atrium	heart
19	chr12:104971800-104977600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
21	chr12:104972600-104977400	Enhancers	K562	blood
22	chr12:104972600-104979200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:104972800-104975800	Weak transcription	Fetal Kidney	kidney
24	chr12:104972800-104976200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:104973000-104975400	Weak transcription	Colonic Mucosa	Colon
26	chr12:104973200-104977400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:104973400-104975000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:104973400-104976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:104973400-104976800	Enhancers	Primary B cells from cord blood	blood
30	chr12:104973400-104979800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:104973600-104975200	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:104973600-104977200	Enhancers	Fetal Stomach	stomach
33	chr12:104973600-104979400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:104973800-104975600	Enhancers	A549	lung
35	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:104974000-104975600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:104974000-104976600	Weak transcription	Dnd41	blood
38	chr12:104974000-104982000	Weak transcription	NH-A	brain
39	chr12:104974200-104975000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:104974200-104976600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:104974200-104981800	Weak transcription	NHDF-Ad	bronchial
42	chr12:104974200-104981800	Weak transcription	Osteobl	bone
43	chr12:104974400-104975200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:104974400-104975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:104974400-104979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:104974400-104984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:104974600-104975600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:104974600-104976000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:104974600-104977800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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