Variant report

Variant	rs9591262
Chromosome Location	chr13:50025331-50025332
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50016895..50018613-chr13:50024420..50026981,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136169	Chromatin interaction
ENSG00000102547	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17072932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17072933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60723161	0.81[ASN][1000 genomes]
rs67216195	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7318481	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73188685	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73188686	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7358961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990424	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7994710	0.81[ASN][1000 genomes]
rs7998078	0.81[ASN][1000 genomes]
rs7998996	0.81[ASN][1000 genomes]
rs9591264	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596110	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596111	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596112	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596116	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596127	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807924	chr13:49991885-50036730	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1796315	chr13:49992988-50031868	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50019400-50036200	Weak transcription	Esophagus	oesophagus
2	chr13:50019600-50028200	Weak transcription	Fetal Stomach	stomach
3	chr13:50019600-50028600	Weak transcription	Fetal Lung	lung
4	chr13:50019600-50034400	Weak transcription	Adipose Nuclei	Adipose
5	chr13:50019600-50035400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:50019600-50035400	Weak transcription	Brain Substantia Nigra	brain
7	chr13:50019600-50035800	Weak transcription	Left Ventricle	heart
8	chr13:50019600-50035800	Weak transcription	HSMM	muscle
9	chr13:50019600-50036000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:50019800-50028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:50019800-50028600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:50019800-50035200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:50019800-50035200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:50019800-50035200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr13:50019800-50035800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr13:50019800-50035800	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:50019800-50037400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:50019800-50037400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:50020000-50026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:50020000-50026400	Weak transcription	Fetal Intestine Large	intestine
21	chr13:50020000-50035600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:50020000-50035600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:50020000-50037200	Weak transcription	Right Ventricle	heart
24	chr13:50020200-50026400	Weak transcription	Fetal Thymus	thymus
25	chr13:50020200-50028200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:50020200-50028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:50020200-50034600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:50020200-50035400	Weak transcription	Placenta	Placenta
29	chr13:50020200-50035800	Weak transcription	Pancreas	Pancrea
30	chr13:50020200-50068400	Weak transcription	HMEC	breast
31	chr13:50020600-50035800	Weak transcription	Thymus	Thymus
32	chr13:50021000-50035000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:50021000-50035800	Weak transcription	Fetal Intestine Small	intestine
34	chr13:50021200-50026200	Weak transcription	Liver	Liver
35	chr13:50021200-50028800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:50021600-50035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:50021800-50026600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr13:50021800-50035800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:50022000-50025800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:50022000-50026400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr13:50022000-50026800	Weak transcription	NHLF	lung
42	chr13:50022000-50028200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:50022000-50028600	Weak transcription	Primary T cells from cord blood	blood
44	chr13:50022000-50032400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr13:50022000-50035200	Weak transcription	Colon Smooth Muscle	Colon
46	chr13:50022000-50035600	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:50022000-50035800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:50022000-50069000	Weak transcription	Fetal Brain Male	brain
49	chr13:50022400-50027600	Weak transcription	Dnd41	blood
50	chr13:50022400-50031600	Weak transcription	Ovary	ovary

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