Variant report

Variant	rs9551845
Chromosome Location	chr13:30689441-30689442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30689194..30691299-chr13:30696452..30698373,2	K562	blood:
2	chr13:30421278..30427133-chr13:30682148..30691157,22	MCF-7	breast:
3	chr13:30407057..30408678-chr13:30687938..30689811,2	MCF-7	breast:
4	chr13:30681624..30684735-chr13:30687394..30690983,4	MCF-7	breast:
5	chr13:30422658..30425963-chr13:30681369..30690318,16	MCF-7	breast:
6	chr13:30687700..30689739-chr13:30690747..30693968,3	MCF-7	breast:
7	chr13:30403000..30404793-chr13:30686519..30690620,3	MCF-7	breast:
8	chr13:30687723..30690408-chr13:30699734..30701487,2	MCF-7	breast:
9	chr13:30081296..30083385-chr13:30689063..30690673,2	MCF-7	breast:
10	chr13:30344923..30346437-chr13:30688756..30689754,7	MCF-7	breast:
11	chr13:30651986..30653783-chr13:30687863..30690496,2	MCF-7	breast:
12	chr13:30687670..30690211-chr13:30694014..30695972,2	MCF-7	breast:
13	chr13:30687972..30690132-chr13:31190210..31193033,2	MCF-7	breast:
14	chr13:30687032..30689624-chr13:30701987..30704608,2	MCF-7	breast:
15	chr13:30618914..30621589-chr13:30687239..30690336,3	MCF-7	breast:
16	chr13:30419279..30420257-chr13:30688857..30689813,4	MCF-7	breast:
17	chr13:30415961..30419397-chr13:30686617..30690558,4	MCF-7	breast:
18	chr13:30538086..30538804-chr13:30688934..30689691,2	MCF-7	breast:
19	chr13:30347146..30349526-chr13:30687739..30689607,2	MCF-7	breast:
20	chr13:30416529..30418789-chr13:30687600..30690547,3	MCF-7	breast:
21	chr13:30688932..30689485-chr13:30732660..30733617,2	MCF-7	breast:
22	chr13:30495539..30501420-chr13:30683250..30690010,13	MCF-7	breast:
23	chr13:30689181..30689782-chr13:30706409..30706933,2	MCF-7	breast:
24	chr13:30686343..30690173-chr13:31036596..31040141,3	MCF-7	breast:
25	chr13:30418877..30421858-chr13:30687750..30689569,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224511	Chromatin interaction
ENSG00000224405	Chromatin interaction
ENSG00000122042	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1409506	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2151207	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61946863	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61946864	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001967	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8002607	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9550527	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9550528	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9551847	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551848	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9551849	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9551851	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9551852	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9551853	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9634323	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30687600-30689800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:30688200-30690400	Enhancers	Fetal Heart	heart
3	chr13:30688400-30689600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:30688400-30689600	Flanking Active TSS	Dnd41	blood
5	chr13:30688400-30689800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:30688400-30689800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:30688600-30689600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:30688600-30689600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr13:30688600-30689600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:30688600-30689600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30688600-30689600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr13:30688600-30689600	Active TSS	Ovary	ovary
13	chr13:30688600-30689600	Active TSS	A549	lung
14	chr13:30688600-30689800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:30688600-30689800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr13:30688600-30689800	Active TSS	Brain Anterior Caudate	brain
17	chr13:30688600-30689800	Active TSS	Fetal Brain Female	brain
18	chr13:30688600-30690000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr13:30688800-30689600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:30688800-30689600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:30688800-30689600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:30688800-30689600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:30688800-30689600	Active TSS	Aorta	Aorta
24	chr13:30688800-30689600	Active TSS	Brain Hippocampus Middle	brain
25	chr13:30688800-30689600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:30688800-30689600	Active TSS	Esophagus	oesophagus
27	chr13:30688800-30689600	Active TSS	Left Ventricle	heart
28	chr13:30688800-30689600	Active TSS	Psoas Muscle	Psoas
29	chr13:30688800-30689800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr13:30688800-30689800	Active TSS	Brain Cingulate Gyrus	brain
31	chr13:30688800-30689800	Active TSS	HepG2	liver
32	chr13:30688800-30690000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:30688800-30690000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30689000-30689600	Active TSS	H1 Cell Line	embryonic stem cell
35	chr13:30689000-30689600	Active TSS	Fetal Stomach	stomach
36	chr13:30689000-30689600	Enhancers	Fetal Thymus	thymus
37	chr13:30689000-30689800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr13:30689000-30689800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:30689200-30689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:30689200-30689600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr13:30689200-30689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr13:30689200-30689600	Enhancers	Fetal Brain Male	brain
43	chr13:30689200-30689800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr13:30689400-30689600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:30689400-30689600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr13:30689400-30689600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr13:30689400-30689600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:30689400-30689600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr13:30689400-30689600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:30689400-30689600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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