Variant report

Variant	rs1795617
Chromosome Location	chr12:65006977-65006978
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:65006604-65007354	GM12878	blood:	n/a	chr12:65006851-65006860 chr12:65006851-65006860
2	CTCF	chr12:65006960-65007110	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64913800..64915930-chr12:65005783..65007721,2	K562	blood:
2	chr12:65006929..65009756-chr12:65024584..65028826,3	MCF-7	breast:
3	chr12:65001130..65003993-chr12:65004405..65007719,4	K562	blood:
4	chr12:65001959..65007139-chr12:65021874..65025265,5	K562	blood:
5	chr12:65004967..65007120-chr12:65061292..65063041,2	K562	blood:
6	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:
7	chr12:65002651..65005528-chr12:65005572..65007081,2	MCF-7	breast:
8	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256670	TF binding region
ENSG00000225195	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000207546	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10748011	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11175496	0.93[EUR][1000 genomes]
rs1147097	0.93[EUR][1000 genomes]
rs1147104	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147106	0.93[EUR][1000 genomes]
rs1244871	0.82[EUR][1000 genomes]
rs1244872	0.82[EUR][1000 genomes]
rs1244881	0.82[EUR][1000 genomes]
rs1245170	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1261879	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1264239	0.82[EUR][1000 genomes]
rs1270430	0.84[EUR][1000 genomes]
rs1520766	0.91[EUR][1000 genomes]
rs1716497	0.93[EUR][1000 genomes]
rs1716518	0.88[EUR][1000 genomes]
rs1795614	0.86[EUR][1000 genomes]
rs1795615	0.82[EUR][1000 genomes]
rs1797690	0.90[EUR][1000 genomes]
rs1797699	0.93[EUR][1000 genomes]
rs2682713	0.93[EUR][1000 genomes]
rs2682717	0.88[EUR][1000 genomes]
rs2682721	0.93[EUR][1000 genomes]
rs4264239	0.91[EUR][1000 genomes]
rs572046	0.87[EUR][1000 genomes]
rs577303	0.80[EUR][1000 genomes]
rs7307999	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7308397	0.91[EUR][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65002600-65007000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:65002600-65007800	Active TSS	GM12878-XiMat	blood
3	chr12:65002800-65007400	Active TSS	Aorta	Aorta
4	chr12:65003000-65007200	Active TSS	Primary T cells fromperipheralblood	blood
5	chr12:65003000-65007600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:65003200-65007600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:65003400-65007600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:65004800-65007000	Active TSS	Stomach Smooth Muscle	stomach
9	chr12:65004800-65007200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:65005400-65007000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:65005400-65007200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:65005400-65007800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:65005600-65010200	Weak transcription	Spleen	Spleen
14	chr12:65005800-65008000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:65005800-65010200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:65005800-65015200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:65005800-65017800	Weak transcription	Gastric	stomach
18	chr12:65006000-65007200	Enhancers	HepG2	liver
19	chr12:65006000-65009800	Weak transcription	Brain Angular Gyrus	brain
20	chr12:65006000-65010000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:65006000-65012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:65006200-65007000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:65006200-65007000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:65006200-65007000	Enhancers	Fetal Lung	lung
25	chr12:65006200-65007000	Enhancers	NH-A	brain
26	chr12:65006200-65007400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:65006200-65007400	Enhancers	Fetal Heart	heart
28	chr12:65006200-65007600	Enhancers	Adipose Nuclei	Adipose
29	chr12:65006200-65007600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:65006200-65007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:65006200-65008600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:65006200-65008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:65006200-65009600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:65006200-65009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:65006200-65009600	Weak transcription	HSMMtube	muscle
36	chr12:65006200-65009600	Weak transcription	Osteobl	bone
37	chr12:65006200-65009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:65006200-65009800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:65006200-65009800	Weak transcription	HSMM	muscle
40	chr12:65006200-65009800	Weak transcription	NHDF-Ad	bronchial
41	chr12:65006200-65010000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:65006200-65010000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:65006200-65010200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:65006200-65010200	Weak transcription	Brain Anterior Caudate	brain
45	chr12:65006200-65010200	Weak transcription	Brain Substantia Nigra	brain
46	chr12:65006200-65013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:65006200-65017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:65006200-65017600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:65006200-65018800	Weak transcription	Fetal Thymus	thymus
50	chr12:65006200-65019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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