Variant report

Variant	rs773655
Chromosome Location	chr12:56597583-56597584
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56595624..56598053-chr12:56655681..56657367,2	K562	blood:
2	chr12:56596235..56598183-chr12:56598582..56601452,2	MCF-7	breast:
3	chr12:56597351..56599804-chr12:56662869..56665470,2	K562	blood:
4	chr12:56596910..56598916-chr12:56648629..56651280,2	MCF-7	breast:
5	chr12:56585829..56588908-chr12:56597306..56601044,5	MCF-7	breast:
6	chr12:56596803..56602914-chr12:56614556..56619492,8	MCF-7	breast:
7	chr12:56594648..56596206-chr12:56596376..56598486,2	MCF-7	breast:
8	chr12:56597026..56600182-chr12:56614117..56619344,5	MCF-7	breast:
9	chr12:56592274..56593790-chr12:56596247..56598917,2	K562	blood:
10	chr12:56585299..56590294-chr12:56596188..56601714,8	K562	blood:
11	chr12:56590800..56593489-chr12:56596950..56599491,2	MCF-7	breast:
12	chr12:56592292..56598159-chr12:56599513..56602957,7	K562	blood:
13	chr12:56596901..56601818-chr12:56613329..56617125,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266023	Chromatin interaction
ENSG00000258260	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000135469	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10747763	0.85[ASN][1000 genomes]
rs10876878	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11171772	0.90[ASN][1000 genomes]
rs11171777	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12229022	0.85[ASN][1000 genomes]
rs12320265	0.90[ASN][1000 genomes]
rs1274502	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1274503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1405859	0.90[ASN][1000 genomes]
rs2463365	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2629451	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2629453	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2695783	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2695784	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2930787	0.89[AMR][1000 genomes]
rs2930788	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2950573	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4759218	0.85[ASN][1000 genomes]
rs58009483	0.90[ASN][1000 genomes]
rs59053322	0.90[ASN][1000 genomes]
rs59078852	0.90[ASN][1000 genomes]
rs59966703	0.90[ASN][1000 genomes]
rs61939011	0.90[ASN][1000 genomes]
rs6581091	0.85[ASN][1000 genomes]
rs703823	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7311008	0.85[ASN][1000 genomes]
rs7489249	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs773654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs773658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs773659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs773660	0.80[ASN][1000 genomes]
rs773661	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7956599	0.86[AFR][1000 genomes]
rs7956926	0.81[AMR][1000 genomes]
rs7962107	0.90[ASN][1000 genomes]
rs7967464	0.90[ASN][1000 genomes]
rs7975405	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv973989	chr12:56582243-56602996	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56584200-56598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:56584600-56598000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:56584600-56598000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:56584600-56598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:56584600-56598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:56584600-56600000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:56584800-56597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:56584800-56597800	Weak transcription	Fetal Thymus	thymus
9	chr12:56584800-56598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:56584800-56598000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:56584800-56598000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:56584800-56598000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:56584800-56598000	Weak transcription	Fetal Stomach	stomach
14	chr12:56584800-56598200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:56584800-56598400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:56584800-56598600	Weak transcription	Ovary	ovary
17	chr12:56584800-56598800	Weak transcription	HMEC	breast
18	chr12:56584800-56599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:56584800-56599400	Weak transcription	Pancreas	Pancrea
20	chr12:56584800-56599600	Weak transcription	Colonic Mucosa	Colon
21	chr12:56585000-56597800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:56585000-56597800	Weak transcription	Primary T cells from cord blood	blood
23	chr12:56585000-56597800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:56585000-56598000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:56585000-56598000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:56585000-56598000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:56585000-56598000	Weak transcription	Fetal Brain Female	brain
28	chr12:56585000-56598000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:56585000-56598200	Weak transcription	A549	lung
30	chr12:56585000-56598400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:56585000-56598400	Weak transcription	NHDF-Ad	bronchial
32	chr12:56585000-56614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:56585200-56598000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:56585800-56598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:56587200-56598000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:56587200-56598000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:56587200-56598200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:56587200-56598600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:56587200-56598600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:56587200-56599400	Weak transcription	Fetal Kidney	kidney
41	chr12:56587400-56597800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:56587400-56598000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:56587400-56598000	Weak transcription	Brain Angular Gyrus	brain
44	chr12:56587400-56598000	Weak transcription	GM12878-XiMat	blood
45	chr12:56587400-56598200	Weak transcription	Dnd41	blood
46	chr12:56587400-56599400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:56587400-56599400	Weak transcription	Hela-S3	cervix
48	chr12:56587400-56599600	Weak transcription	HepG2	liver
49	chr12:56587600-56598000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:56588200-56600600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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