Variant report

Variant	rs17860311
Chromosome Location	chr12:51735319-51735320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51441660..51442276-chr12:51734784..51735621,2	K562	blood:
2	chr12:51219278..51219813-chr12:51735276..51735836,2	K562	blood:
3	chr12:51663429..51664037-chr12:51734909..51735814,4	K562	blood:
4	chr12:51663030..51663992-chr12:51734763..51735802,12	MCF-7	breast:
5	chr12:51474815..51477220-chr12:51735097..51737223,2	K562	blood:
6	chr12:51663027..51663961-chr12:51734595..51735757,6	MCF-7	breast:
7	chr12:51610324..51613201-chr12:51733720..51736973,4	K562	blood:
8	chr12:51656152..51657144-chr12:51734870..51735800,7	MCF-7	breast:
9	chr12:51631606..51634068-chr12:51733691..51737462,4	K562	blood:
10	chr12:51663410..51663975-chr12:51735069..51735743,2	MCF-7	breast:
11	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
12	chr12:51661063..51664468-chr12:51732483..51736872,6	MCF-7	breast:
13	chr12:51661930..51666177-chr12:51732145..51735624,5	MCF-7	breast:
14	chr12:51380424..51380934-chr12:51734819..51735418,2	MCF-7	breast:
15	chr12:51656622..51657136-chr12:51734891..51735412,2	MCF-7	breast:
16	chr12:51441397..51442221-chr12:51735006..51735798,3	MCF-7	breast:
17	chr12:51732471..51736842-chr12:51740584..51742945,3	MCF-7	breast:
18	chr12:51734275..51737716-chr12:51737747..51740483,3	K562	blood:
19	chr12:51474705..51477188-chr12:51731432..51735357,3	K562	blood:
20	chr12:51658184..51660274-chr12:51733778..51735476,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000139610	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12303396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318961	1.00[AMR][1000 genomes]
rs12322422	1.00[AMR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51724400-51739200	Weak transcription	Thymus	Thymus
2	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
3	chr12:51734800-51735400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:51734800-51735400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:51734800-51735400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51734800-51735400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:51734800-51735600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:51734800-51735600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:51734800-51735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:51734800-51735800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:51734800-51736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:51734800-51740400	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:51735000-51735400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:51735000-51735400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:51735000-51735400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:51735000-51735400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:51735000-51735400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:51735000-51735400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:51735000-51735400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:51735000-51735400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:51735000-51735400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:51735000-51735400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:51735000-51735400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:51735000-51735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:51735000-51735400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:51735000-51735400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:51735000-51735400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:51735000-51735400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr12:51735000-51735400	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:51735000-51735400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:51735000-51735400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:51735000-51735400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr12:51735000-51735400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:51735000-51735400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:51735000-51735400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51735000-51735400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51735000-51735400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51735000-51735400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:51735000-51735400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:51735000-51735400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:51735000-51735400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:51735000-51735400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:51735000-51735400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:51735000-51735400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:51735000-51735400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:51735000-51735400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:51735000-51735400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:51735000-51735400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:51735000-51735400	Flanking Active TSS	Liver	Liver
50	chr12:51735000-51735400	Active TSS	Brain Angular Gyrus	brain

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