Variant report

Variant	rs213158
Chromosome Location	chr15:57207331-57207332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:57206875-57207471	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57207306..57209100-chr15:57209137..57210700,2	K562	blood:
2	chr15:57205797..57207412-chr15:57209356..57212268,3	K562	blood:

Variant related genes	Relation type
TCF12	TF binding region
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs13329610	1.00[JPT][hapmap]
rs1430821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1642932	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1642938	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652734	0.94[ASN][1000 genomes]
rs1652735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1652736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657925	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213145	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213146	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213157	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs213159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213161	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs213169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2566843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2576928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2585084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2585117	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2585118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703587	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2703589	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2733194	1.00[JPT][hapmap]
rs2733195	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2733339	1.00[JPT][hapmap]
rs4494480	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs56235870	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56683633	1.00[AMR][1000 genomes]
rs56804967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57344548	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57452003	1.00[ASN][1000 genomes]
rs57813422	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57849686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968080	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59313491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268394	1.00[ASN][1000 genomes]
rs604191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162421	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73411246	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73413333	1.00[AMR][1000 genomes]
rs73413352	1.00[AMR][1000 genomes]
rs73413365	1.00[AMR][1000 genomes]
rs74018446	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018485	1.00[AMR][1000 genomes]
rs8025829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8037469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8040423	1.00[ASN][1000 genomes]
rs8043301	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57180200-57208000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:57182000-57209200	Weak transcription	Fetal Stomach	stomach
3	chr15:57191800-57208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57194400-57208600	Weak transcription	Left Ventricle	heart
5	chr15:57196200-57207800	Weak transcription	Fetal Brain Female	brain
6	chr15:57199000-57209000	Weak transcription	Brain Germinal Matrix	brain
7	chr15:57199200-57209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:57199400-57209200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:57199600-57209000	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:57199600-57209200	Weak transcription	Psoas Muscle	Psoas
11	chr15:57200000-57208000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:57200000-57209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:57200000-57209000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:57200200-57209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:57200200-57209000	Weak transcription	Liver	Liver
16	chr15:57200200-57209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:57200200-57209200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:57200200-57209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:57200400-57207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:57200400-57209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:57200400-57209000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:57200400-57209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:57201800-57208000	Weak transcription	Fetal Lung	lung
24	chr15:57202600-57209600	Weak transcription	NH-A	brain
25	chr15:57203000-57209000	Weak transcription	Brain Angular Gyrus	brain
26	chr15:57203200-57207800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:57203200-57208000	Weak transcription	Ovary	ovary
28	chr15:57203200-57208200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:57203400-57208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:57203400-57209000	Weak transcription	Brain Substantia Nigra	brain
31	chr15:57203400-57209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:57204600-57208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:57204800-57208800	Weak transcription	Thymus	Thymus
34	chr15:57205000-57208600	Weak transcription	Fetal Thymus	thymus
35	chr15:57205600-57209000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:57206000-57208800	Weak transcription	Adipose Nuclei	Adipose
37	chr15:57206000-57209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:57206000-57209800	Weak transcription	HSMM	muscle
39	chr15:57206200-57207800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:57206200-57209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:57206200-57209000	Weak transcription	Fetal Heart	heart
42	chr15:57206200-57209000	Weak transcription	NHDF-Ad	bronchial
43	chr15:57206200-57209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:57206200-57209200	Weak transcription	HSMMtube	muscle
45	chr15:57206200-57209400	Weak transcription	Dnd41	blood
46	chr15:57206200-57209600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:57206400-57208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:57206400-57209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:57206400-57209000	Weak transcription	HUVEC	blood vessel
50	chr15:57206400-57209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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