Variant report

Variant	rs2359600
Chromosome Location	chr12:51735557-51735558
allele	C/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 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	chr12:51477518..51478122-chr12:51735376..51736120,2	K562	blood:
12	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
13	chr12:51661063..51664468-chr12:51732483..51736872,6	MCF-7	breast:
14	chr12:51661930..51666177-chr12:51732145..51735624,5	MCF-7	breast:
15	chr12:51441397..51442221-chr12:51735006..51735798,3	MCF-7	breast:
16	chr12:51417210..51419403-chr12:51735498..51737937,2	K562	blood:
17	chr12:51732471..51736842-chr12:51740584..51742945,3	MCF-7	breast:
18	chr12:51734275..51737716-chr12:51737747..51740483,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000139610	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs11169753	1.00[EUR][1000 genomes]
rs12297981	1.00[EUR][1000 genomes]
rs12304834	1.00[EUR][1000 genomes]
rs12310188	1.00[EUR][1000 genomes]
rs12310717	1.00[EUR][1000 genomes]
rs12321105	1.00[EUR][1000 genomes]
rs2359601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3951439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7138157	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	1.00[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	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:80 , 50 per page) page: 1 2

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	chr12:51734800-51735600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:51734800-51735600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:51734800-51735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:51734800-51735800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:51734800-51736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:51734800-51740400	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:51735000-51735600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:51735000-51735600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51735000-51735600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:51735000-51735600	Enhancers	Primary T cells from cord blood	blood
13	chr12:51735000-51735600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:51735000-51735600	Enhancers	Fetal Thymus	thymus
15	chr12:51735000-51736800	Enhancers	GM12878-XiMat	blood
16	chr12:51735000-51737400	Enhancers	NHEK	skin
17	chr12:51735200-51735600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:51735200-51735600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:51735200-51739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:51735200-51739200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:51735200-51740000	Weak transcription	Pancreas	Pancrea
22	chr12:51735400-51735600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51735400-51735600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:51735400-51735600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:51735400-51735600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:51735400-51735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:51735400-51735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:51735400-51735600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:51735400-51735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:51735400-51735600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:51735400-51735600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:51735400-51735600	Enhancers	Liver	Liver
33	chr12:51735400-51735600	Enhancers	Brain Anterior Caudate	brain
34	chr12:51735400-51735600	Enhancers	Brain Hippocampus Middle	brain
35	chr12:51735400-51735600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:51735400-51735600	Enhancers	Colon Smooth Muscle	Colon
37	chr12:51735400-51735600	Enhancers	Duodenum Mucosa	Duodenum
38	chr12:51735400-51735600	Enhancers	Fetal Muscle Leg	muscle
39	chr12:51735400-51735600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:51735400-51735600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:51735400-51735600	Enhancers	Hela-S3	cervix
42	chr12:51735400-51735600	Enhancers	HepG2	liver
43	chr12:51735400-51735600	Enhancers	K562	blood
44	chr12:51735400-51735800	Weak transcription	Esophagus	oesophagus
45	chr12:51735400-51735800	Enhancers	A549	lung
46	chr12:51735400-51735800	Enhancers	Dnd41	blood
47	chr12:51735400-51736200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:51735400-51736400	Enhancers	HMEC	breast
49	chr12:51735400-51737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51735400-51739000	Enhancers	Primary B cells from cord blood	blood

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