Variant report

Variant	rs74018426
Chromosome Location	chr15:57205811-57205812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57200840..57203668-chr15:57205657..57207213,2	K562	blood:
2	chr15:57205797..57207412-chr15:57209356..57212268,3	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12593585	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12594574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16977152	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16977165	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16977226	1.00[EUR][1000 genomes]
rs213150	0.81[ASN][1000 genomes]
rs35615435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803456	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56193354	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57722526	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58121543	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58169256	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60056005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60219100	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60972002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61382868	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74018413	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74018424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74018429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74018439	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74018441	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74018460	1.00[EUR][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:52 , 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	chr15:57197600-57207200	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:57199000-57209000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:57199200-57209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:57199400-57209200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:57199600-57209000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:57199600-57209200	Weak transcription	Psoas Muscle	Psoas
12	chr15:57200000-57208000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:57200000-57209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:57200000-57209000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:57200200-57209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:57200200-57209000	Weak transcription	Liver	Liver
17	chr15:57200200-57209200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:57200200-57209200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:57200200-57209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:57200400-57207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:57200400-57209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:57200400-57209000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:57200400-57209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:57201800-57208000	Weak transcription	Fetal Lung	lung
25	chr15:57202600-57209600	Weak transcription	NH-A	brain
26	chr15:57203000-57209000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:57203200-57207800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:57203200-57208000	Weak transcription	Ovary	ovary
29	chr15:57203200-57208200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:57203400-57208800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:57203400-57209000	Weak transcription	Brain Substantia Nigra	brain
32	chr15:57203400-57209200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:57204600-57208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:57204800-57208800	Weak transcription	Thymus	Thymus
35	chr15:57205000-57208600	Weak transcription	Fetal Thymus	thymus
36	chr15:57205200-57206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:57205200-57206400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:57205400-57206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:57205400-57206200	Enhancers	Dnd41	blood
40	chr15:57205400-57206400	Enhancers	HUVEC	blood vessel
41	chr15:57205400-57207000	Enhancers	Aorta	Aorta
42	chr15:57205600-57206000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:57205600-57206000	Enhancers	HSMM	muscle
44	chr15:57205600-57206200	Enhancers	Fetal Heart	heart
45	chr15:57205600-57206400	Enhancers	NHLF	lung
46	chr15:57205600-57206400	Enhancers	Osteobl	bone
47	chr15:57205600-57209000	Weak transcription	Brain Anterior Caudate	brain
48	chr15:57205800-57206000	Enhancers	Adipose Nuclei	Adipose
49	chr15:57205800-57206200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:57205800-57206200	Enhancers	HSMMtube	muscle

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