Variant report

Variant	rs34373044
Chromosome Location	chr15:57200123-57200124
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	chr15:57197545..57200478-chr15:57209928..57211970,2	K562	blood:
2	chr15:57161808..57163920-chr15:57199692..57202077,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11630965	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12437976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440219	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12902058	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12906025	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1657926	0.91[EUR][1000 genomes]
rs169893	0.82[EUR][1000 genomes]
rs190039	0.81[AMR][1000 genomes]
rs1963831	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1968399	0.89[EUR][1000 genomes]
rs1975092	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2111890	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2116067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116068	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213152	0.86[EUR][1000 genomes]
rs213155	0.86[EUR][1000 genomes]
rs213160	0.82[EUR][1000 genomes]
rs213163	0.86[EUR][1000 genomes]
rs213166	0.81[EUR][1000 genomes]
rs2163370	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2439921	0.80[EUR][1000 genomes]
rs2543675	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2566840	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4581646	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4774246	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4774900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7162730	0.88[EUR][1000 genomes]
rs7164742	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8031788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57180200-57208000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:57181600-57204000	Weak transcription	Thymus	Thymus
3	chr15:57182000-57209200	Weak transcription	Fetal Stomach	stomach
4	chr15:57182600-57204200	Weak transcription	Fetal Thymus	thymus
5	chr15:57191800-57208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57194400-57208600	Weak transcription	Left Ventricle	heart
7	chr15:57196000-57205800	Weak transcription	HSMMtube	muscle
8	chr15:57196200-57207800	Weak transcription	Fetal Brain Female	brain
9	chr15:57197600-57207200	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:57199000-57200200	Enhancers	Primary B cells from cord blood	blood
11	chr15:57199000-57200400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:57199000-57209000	Weak transcription	Brain Germinal Matrix	brain
13	chr15:57199200-57200200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr15:57199200-57209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:57199400-57200200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:57199400-57200200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:57199400-57200200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:57199400-57200200	Enhancers	Liver	Liver
19	chr15:57199400-57200200	Enhancers	Dnd41	blood
20	chr15:57199400-57209200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:57199600-57200200	Active TSS	Duodenum Mucosa	Duodenum
22	chr15:57199600-57200200	Active TSS	GM12878-XiMat	blood
23	chr15:57199600-57200400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:57199600-57203000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:57199600-57203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:57199600-57209000	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:57199600-57209200	Weak transcription	Psoas Muscle	Psoas
28	chr15:57199800-57200200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:57199800-57200200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:57199800-57200200	Active TSS	NHDF-Ad	bronchial
31	chr15:57199800-57200200	Active TSS	NHLF	lung
32	chr15:57200000-57200200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:57200000-57200200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr15:57200000-57200200	Enhancers	NHEK	skin
35	chr15:57200000-57200400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:57200000-57200600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:57200000-57208000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:57200000-57209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:57200000-57209000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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