Variant report

Variant	rs7162421
Chromosome Location	chr15:57250280-57250281
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57208582..57210610-chr15:57249153..57251996,2	K562	blood:
2	chr15:57243814..57246675-chr15:57249324..57251467,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1430821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1542508	1.00[AMR][1000 genomes]
rs1642932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1642938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1652734	0.81[ASN][1000 genomes]
rs1652735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1652736	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1657925	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2116064	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213147	0.91[EUR][1000 genomes]
rs213157	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213158	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213161	1.00[AMR][1000 genomes]
rs213169	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2566843	1.00[EUR][1000 genomes]
rs2576928	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2585084	1.00[AMR][1000 genomes]
rs2585117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2585118	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4494480	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56235870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56683633	1.00[AMR][1000 genomes]
rs56804967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57452003	0.86[ASN][1000 genomes]
rs57813422	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57849686	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57968080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58388376	1.00[AMR][1000 genomes]
rs59313491	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60268394	0.86[ASN][1000 genomes]
rs604191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7161894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7170742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7175983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7180911	1.00[AMR][1000 genomes]
rs73411246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73413325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73413333	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73413352	1.00[AMR][1000 genomes]
rs73413365	1.00[AMR][1000 genomes]
rs74018446	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018485	1.00[AMR][1000 genomes]
rs8025829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8037469	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8040423	0.86[ASN][1000 genomes]
rs8043301	1.00[AMR][1000 genomes];0.86[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	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
2	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
3	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
2	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:57222800-57255000	Weak transcription	HMEC	breast
4	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:57229400-57255800	Weak transcription	Fetal Stomach	stomach
7	chr15:57232000-57256000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:57238400-57256200	Weak transcription	K562	blood
9	chr15:57241000-57255600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:57241200-57251600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:57241200-57254400	Weak transcription	NHLF	lung
12	chr15:57242200-57251400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:57242200-57256000	Weak transcription	Ovary	ovary
14	chr15:57242600-57252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:57244000-57255800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:57244200-57257800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:57246800-57256000	Weak transcription	Gastric	stomach
18	chr15:57248200-57250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr15:57248600-57251800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr15:57248800-57251800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:57249000-57252000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr15:57249200-57251600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:57249200-57252400	Enhancers	Dnd41	blood
24	chr15:57249400-57250400	Weak transcription	Fetal Lung	lung
25	chr15:57249400-57251400	Weak transcription	HSMM	muscle
26	chr15:57249400-57251600	Weak transcription	Osteobl	bone
27	chr15:57249400-57254600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:57249400-57256000	Weak transcription	Aorta	Aorta
29	chr15:57249800-57250600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:57249800-57250800	Flanking Active TSS	A549	lung
31	chr15:57249800-57251000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:57249800-57251000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:57249800-57251400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:57249800-57251800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:57249800-57251800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr15:57249800-57252000	Enhancers	Liver	Liver
37	chr15:57249800-57252200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr15:57250000-57250400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr15:57250000-57250600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:57250000-57251000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:57250000-57251000	Enhancers	Brain Anterior Caudate	brain
42	chr15:57250000-57251600	Enhancers	Thymus	Thymus
43	chr15:57250000-57251800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:57250000-57252000	Enhancers	Fetal Thymus	thymus
45	chr15:57250000-57252200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr15:57250000-57252400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr15:57250000-57256200	Weak transcription	Primary B cells from cord blood	blood
48	chr15:57250200-57250400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:57250200-57250600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:57250200-57250600	Flanking Active TSS	Primary T cells from cord blood	blood

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