Variant report

Variant	rs590352
Chromosome Location	chr12:74932159-74932160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:
2	chr1:45187088..45187986-chr12:74931515..74932372,2	NB4	blood:

Variant related genes	Relation type
ENSG00000251138	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10506693	0.90[ASN][1000 genomes]
rs12809241	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12825946	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1461050	0.80[CEU][hapmap]
rs1493796	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1493801	0.90[ASN][1000 genomes]
rs1493810	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17113674	0.94[ASN][1000 genomes]
rs17113675	0.94[ASN][1000 genomes]
rs17113679	0.94[ASN][1000 genomes]
rs17113748	0.90[ASN][1000 genomes]
rs17113750	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17180010	1.00[JPT][hapmap]
rs1824539	0.90[ASN][1000 genomes]
rs2061579	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2126136	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2365919	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2605375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2605381	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2641470	0.82[ASN][1000 genomes]
rs2641471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34706013	0.90[ASN][1000 genomes]
rs35454023	0.94[ASN][1000 genomes]
rs35957931	0.90[ASN][1000 genomes]
rs36030036	0.87[ASN][1000 genomes]
rs4547177	0.94[ASN][1000 genomes]
rs4882643	0.86[ASN][1000 genomes]
rs58783285	0.94[ASN][1000 genomes]
rs60905363	0.94[ASN][1000 genomes]
rs67506065	0.86[ASN][1000 genomes]
rs7132047	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs725181	0.90[ASN][1000 genomes]
rs7295970	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7300059	0.90[ASN][1000 genomes]
rs7304361	0.90[ASN][1000 genomes]
rs7957387	1.00[JPT][hapmap]
rs7962722	0.94[ASN][1000 genomes]
rs7964349	1.00[JPT][hapmap]
rs9668146	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899292	chr12:74835107-74934162	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
6	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74930200-74932400	Active TSS	A549	lung
2	chr12:74930600-74932400	Active TSS	Placenta	Placenta
3	chr12:74930600-74932400	Active TSS	Psoas Muscle	Psoas
4	chr12:74930600-74932400	Active TSS	HSMM	muscle
5	chr12:74930600-74932800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:74930800-74932200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:74930800-74932200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:74930800-74932200	Active TSS	Fetal Muscle Leg	muscle
9	chr12:74930800-74932200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:74930800-74932200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:74930800-74932200	Active TSS	NH-A	brain
12	chr12:74930800-74932200	Active TSS	Osteobl	bone
13	chr12:74930800-74932400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:74930800-74932400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:74930800-74932400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:74930800-74932400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:74930800-74932400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:74930800-74932400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:74930800-74932400	Active TSS	Colon Smooth Muscle	Colon
20	chr12:74930800-74932400	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:74930800-74932400	Active TSS	Fetal Brain Female	brain
22	chr12:74930800-74932400	Active TSS	Fetal Thymus	thymus
23	chr12:74930800-74932400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:74930800-74932400	Active TSS	Thymus	Thymus
25	chr12:74930800-74932400	Active TSS	Hela-S3	cervix
26	chr12:74930800-74932400	Active TSS	HMEC	breast
27	chr12:74930800-74932400	Active TSS	HSMMtube	muscle
28	chr12:74930800-74932400	Active TSS	NHDF-Ad	bronchial
29	chr12:74930800-74932400	Active TSS	NHEK	skin
30	chr12:74930800-74932400	Active TSS	NHLF	lung
31	chr12:74930800-74932600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:74930800-74932600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:74930800-74932600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:74930800-74932600	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr12:74930800-74932600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:74930800-74932600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:74930800-74932600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr12:74930800-74932600	Active TSS	GM12878-XiMat	blood
39	chr12:74930800-74932800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:74930800-74932800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:74931000-74932200	Active TSS	Primary B cells from peripheral blood	blood
42	chr12:74931000-74932200	Active TSS	Primary T cells fromperipheralblood	blood
43	chr12:74931000-74932400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:74931000-74932400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:74931000-74932400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr12:74931000-74932400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:74931000-74932400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:74931000-74932400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:74931000-74932400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:74931000-74932400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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