Variant report

Variant	rs61962700
Chromosome Location	chr13:110442987-110442988
allele	G/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	GATA1	chr13:110442935-110444423	PBDE	blood:	n/a	chr13:110444321-110444338 chr13:110444054-110444061 chr13:110442941-110442957 chr13:110442938-110442959 chr13:110443824-110443835 chr13:110442941-110442957 chr13:110443663-110443673

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110437931..110439923-chr13:110442337..110443965,2	MCF-7	breast:

Variant related genes	Relation type
IRS2	TF binding region
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12858484	0.99[ASN][1000 genomes]
rs1414318	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832094	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986346	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986524	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301411	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9521519	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	esv1795443	chr13:110435953-110453607	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110440000-110443200	Enhancers	Dnd41	blood
2	chr13:110440200-110443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:110440200-110443400	Weak transcription	Pancreas	Pancrea
4	chr13:110440200-110443600	Enhancers	Liver	Liver
5	chr13:110440200-110443600	Weak transcription	Esophagus	oesophagus
6	chr13:110440400-110443200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:110440400-110443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:110440400-110443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:110440400-110443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:110440400-110443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:110440400-110443400	Weak transcription	Primary T cells from cord blood	blood
12	chr13:110440400-110443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:110440400-110443400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:110440400-110443400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:110440400-110443400	Weak transcription	Left Ventricle	heart
16	chr13:110440400-110443400	Weak transcription	Psoas Muscle	Psoas
17	chr13:110440400-110443400	Weak transcription	Right Atrium	heart
18	chr13:110440400-110443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:110440400-110443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:110440400-110443800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:110440400-110445000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:110440400-110446200	Weak transcription	NHEK	skin
23	chr13:110440400-110446600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:110440400-110447200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:110440800-110443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:110441200-110443200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr13:110441200-110443400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:110441200-110443400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:110441200-110444000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:110441400-110443200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:110441400-110443400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:110441400-110443400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:110441400-110443400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr13:110441400-110443400	Weak transcription	Brain Germinal Matrix	brain
35	chr13:110441400-110443600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:110441600-110443200	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:110441600-110443400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr13:110441600-110443400	Weak transcription	Brain Anterior Caudate	brain
39	chr13:110441600-110443400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:110441600-110443600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:110441600-110443800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr13:110441600-110444000	Enhancers	HSMM	muscle
43	chr13:110441800-110443200	Weak transcription	Brain Angular Gyrus	brain
44	chr13:110441800-110443200	Enhancers	A549	lung
45	chr13:110441800-110443200	Weak transcription	K562	blood
46	chr13:110441800-110443400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr13:110441800-110443400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:110441800-110443400	Weak transcription	Adipose Nuclei	Adipose
49	chr13:110441800-110443600	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr13:110441800-110443800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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