Variant report

Variant	rs7138887
Chromosome Location	chr12:50796423-50796424
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50795879..50797710-chr12:50805639..50808628,2	MCF-7	breast:
2	chr12:50792642..50794335-chr12:50796337..50798839,2	MCF-7	breast:
3	chr12:50795980..50797892-chr12:50802971..50805412,2	MCF-7	breast:
4	chr12:50787607..50792856-chr12:50793045..50797935,10	K562	blood:

Variant related genes	Relation type
ENSG00000185958	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10467057	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467107	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783361	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876033	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10876035	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs11169423	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17124559	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17124706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238105	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs4321029	0.80[EUR][1000 genomes]
rs4343103	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424740	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768936	1.00[JPT][hapmap]
rs4768976	1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57594106	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58723865	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59210472	0.82[EUR][1000 genomes]
rs7304630	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308184	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305103	0.82[EUR][1000 genomes]
rs73305105	0.82[EUR][1000 genomes]
rs73305121	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305168	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489251	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959284	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964643	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967393	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs7970694	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973910	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50793600-50796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:50793800-50796600	Active TSS	Hela-S3	cervix
3	chr12:50793800-50797000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:50793800-50797000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:50793800-50797000	Active TSS	Fetal Intestine Large	intestine
6	chr12:50793800-50797400	Active TSS	K562	blood
7	chr12:50793800-50798000	Active TSS	GM12878-XiMat	blood
8	chr12:50794000-50796600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:50794000-50796600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:50794000-50796600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:50794000-50796600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:50794000-50796600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50794000-50796600	Active TSS	Colonic Mucosa	Colon
14	chr12:50794000-50796600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:50794000-50796800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:50794000-50796800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:50794000-50796800	Active TSS	Aorta	Aorta
18	chr12:50794000-50796800	Active TSS	Fetal Intestine Small	intestine
19	chr12:50794000-50796800	Active TSS	A549	lung
20	chr12:50794000-50796800	Active TSS	HSMMtube	muscle
21	chr12:50794000-50797000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr12:50794000-50797200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:50794000-50797400	Active TSS	NHLF	lung
24	chr12:50794000-50797600	Active TSS	Right Ventricle	heart
25	chr12:50794000-50797800	Active TSS	Psoas Muscle	Psoas
26	chr12:50794000-50798200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:50794200-50796600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:50794200-50796600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:50794200-50796600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:50794200-50796600	Active TSS	Left Ventricle	heart
31	chr12:50794200-50796800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:50794200-50796800	Active TSS	Fetal Kidney	kidney
33	chr12:50794200-50796800	Active TSS	HSMM	muscle
34	chr12:50794200-50797000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:50794200-50797000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:50794200-50797000	Active TSS	Ovary	ovary
37	chr12:50794200-50797400	Active TSS	HMEC	breast
38	chr12:50794400-50796600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:50794400-50796600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:50794400-50796600	Active TSS	Osteobl	bone
41	chr12:50794600-50796600	Active TSS	Liver	Liver
42	chr12:50794800-50796600	Bivalent/Poised TSS	HepG2	liver
43	chr12:50795000-50796800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr12:50795000-50797200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:50795000-50797600	Active TSS	Right Atrium	heart
46	chr12:50795200-50797000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr12:50795200-50797200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:50795400-50796600	Flanking Active TSS	Fetal Brain Female	brain
49	chr12:50795400-50797000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:50795400-50797200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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