Variant report

Variant	rs61961485
Chromosome Location	chr13:50359303-50359304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50356308..50362290-chr13:50362376..50368273,10	K562	blood:
2	chr13:50358890..50362545-chr13:50364885..50368463,3	MCF-7	breast:
3	chr13:50355140..50356719-chr13:50358517..50361245,2	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

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

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

rs_ID	r²[population]
rs1008939	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12019576	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35526541	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3742096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58303577	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61961487	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324563	0.82[EUR][1000 genomes]
rs7328465	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7983049	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7996689	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316478	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9526603	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526606	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9535318	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535320	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535323	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535325	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535327	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535331	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535346	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535360	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535361	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535362	0.81[EUR][1000 genomes]
rs9535366	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs957474	1.00[AMR][1000 genomes];1.00[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	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1038	chr13:50324773-50359990	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50321000-50363800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr13:50336200-50364800	Weak transcription	Fetal Intestine Small	intestine
3	chr13:50336800-50364600	Weak transcription	NHLF	lung
4	chr13:50341200-50359400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:50349600-50365400	Weak transcription	Lung	lung
7	chr13:50351200-50364200	Weak transcription	HSMM	muscle
8	chr13:50351200-50364600	Weak transcription	HSMMtube	muscle
9	chr13:50351400-50362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:50351400-50363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:50351600-50360800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:50351600-50363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:50351800-50359400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:50351800-50363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:50351800-50364000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
17	chr13:50352400-50364400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:50352600-50363800	Weak transcription	Pancreas	Pancrea
19	chr13:50352600-50363800	Weak transcription	Thymus	Thymus
20	chr13:50352600-50364800	Weak transcription	A549	lung
21	chr13:50353000-50359800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:50353000-50360400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr13:50353000-50363800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr13:50353000-50363800	Weak transcription	Small Intestine	intestine
25	chr13:50353200-50360800	Weak transcription	Primary T cells from cord blood	blood
26	chr13:50353800-50363800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:50354200-50363800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr13:50354200-50363800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:50354200-50364400	Weak transcription	Right Atrium	heart
30	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:50354400-50361200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:50354400-50362600	Weak transcription	Dnd41	blood
33	chr13:50354400-50363200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr13:50354400-50363600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:50354600-50360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:50354800-50362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr13:50355000-50361200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr13:50355200-50361200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr13:50355600-50360800	Weak transcription	Fetal Lung	lung
41	chr13:50356000-50359400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr13:50356000-50363200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:50356200-50363800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:50356200-50364800	Weak transcription	NHEK	skin
45	chr13:50356400-50364000	Weak transcription	Brain Anterior Caudate	brain
46	chr13:50356400-50365200	Weak transcription	Right Ventricle	heart
47	chr13:50356600-50360800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:50356600-50363000	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:50356600-50365000	Weak transcription	Fetal Kidney	kidney
50	chr13:50356800-50363200	Weak transcription	Brain Germinal Matrix	brain

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