Variant report

Variant	rs9555635
Chromosome Location	chr13:110441759-110441760
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr13:110440507-110442308	SK-N-SH	brain:	n/a	n/a
2	MYC	chr13:110441059-110441925	NB4	blood:	n/a	n/a
3	MAX	chr13:110441687-110441968	NB4	blood:	n/a	n/a
4	NFIC	chr13:110441642-110442076	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr13:110441487-110442250	SK-N-SH	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120

No data

Variant related genes	Relation type
IRS2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12853546	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12864020	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974134	0.81[ASN][1000 genomes]
rs34911155	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372569	0.81[ASN][1000 genomes]
rs4773093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4773094	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559654	0.90[ASN][1000 genomes]
rs9559656	0.90[ASN][1000 genomes]
rs9559657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9559659	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9559660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv826796	chr13:110430886-110442431	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
11	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110439600-110442000	Enhancers	Fetal Brain Male	brain
2	chr13:110440000-110443200	Enhancers	Dnd41	blood
3	chr13:110440200-110441800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr13:110440200-110443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:110440200-110443400	Weak transcription	Pancreas	Pancrea
6	chr13:110440200-110443600	Enhancers	Liver	Liver
7	chr13:110440200-110443600	Weak transcription	Esophagus	oesophagus
8	chr13:110440400-110441800	Enhancers	Adipose Nuclei	Adipose
9	chr13:110440400-110442400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:110440400-110442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:110440400-110442600	Weak transcription	NHDF-Ad	bronchial
12	chr13:110440400-110443200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:110440400-110443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:110440400-110443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:110440400-110443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:110440400-110443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:110440400-110443400	Weak transcription	Primary T cells from cord blood	blood
18	chr13:110440400-110443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:110440400-110443400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr13:110440400-110443400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:110440400-110443400	Weak transcription	Left Ventricle	heart
22	chr13:110440400-110443400	Weak transcription	Psoas Muscle	Psoas
23	chr13:110440400-110443400	Weak transcription	Right Atrium	heart
24	chr13:110440400-110443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:110440400-110443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:110440400-110443800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:110440400-110445000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:110440400-110446200	Weak transcription	NHEK	skin
29	chr13:110440400-110446600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:110440400-110447200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:110440600-110441800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:110440600-110442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr13:110440800-110441800	Enhancers	Fetal Heart	heart
34	chr13:110440800-110443400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr13:110441000-110441800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:110441000-110441800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:110441000-110441800	Enhancers	Brain Angular Gyrus	brain
38	chr13:110441000-110442000	Enhancers	Fetal Brain Female	brain
39	chr13:110441200-110441800	Enhancers	Brain Cingulate Gyrus	brain
40	chr13:110441200-110442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:110441200-110442600	Enhancers	HMEC	breast
42	chr13:110441200-110443200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr13:110441200-110443400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr13:110441200-110443400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:110441200-110444000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr13:110441400-110441800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:110441400-110441800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr13:110441400-110441800	Active TSS	Aorta	Aorta
49	chr13:110441400-110442400	Weak transcription	Hela-S3	cervix
50	chr13:110441400-110443200	Enhancers	Monocytes-CD14+_RO01746	blood

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