Variant report

Variant	rs7358961
Chromosome Location	chr13:50022873-50022874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50022438..50024030-chr13:50027384..50029296,2	MCF-7	breast:
2	chr13:50022863..50025187-chr13:50116857..50119478,2	K562	blood:

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

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

rs_ID	r²[population]
rs17072932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17072933	1.00[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7324805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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]
rs9591262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591264	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9596108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596110	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9596111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596112	0.93[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50019400-50036200	Weak transcription	Esophagus	oesophagus
2	chr13:50019600-50024200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:50019600-50028200	Weak transcription	Fetal Stomach	stomach
4	chr13:50019600-50028600	Weak transcription	Fetal Lung	lung
5	chr13:50019600-50034400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:50019600-50035400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:50019600-50035400	Weak transcription	Brain Substantia Nigra	brain
8	chr13:50019600-50035800	Weak transcription	Left Ventricle	heart
9	chr13:50019600-50035800	Weak transcription	HSMM	muscle
10	chr13:50019600-50036000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:50019800-50023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr13:50019800-50023200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:50019800-50023400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:50019800-50028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:50019800-50028600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:50019800-50035200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:50019800-50035200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:50019800-50035200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr13:50019800-50035800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:50019800-50035800	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:50019800-50037400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:50019800-50037400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:50020000-50026400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:50020000-50026400	Weak transcription	Fetal Intestine Large	intestine
25	chr13:50020000-50035600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:50020000-50035600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:50020000-50037200	Weak transcription	Right Ventricle	heart
28	chr13:50020200-50023000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr13:50020200-50023400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr13:50020200-50024800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr13:50020200-50026400	Weak transcription	Fetal Thymus	thymus
32	chr13:50020200-50028200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr13:50020200-50028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:50020200-50034600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:50020200-50035400	Weak transcription	Placenta	Placenta
36	chr13:50020200-50035800	Weak transcription	Pancreas	Pancrea
37	chr13:50020200-50068400	Weak transcription	HMEC	breast
38	chr13:50020600-50035800	Weak transcription	Thymus	Thymus
39	chr13:50020800-50023000	Enhancers	Rectal Smooth Muscle	rectum
40	chr13:50021000-50023200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr13:50021000-50035000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:50021000-50035800	Weak transcription	Fetal Intestine Small	intestine
43	chr13:50021200-50026200	Weak transcription	Liver	Liver
44	chr13:50021200-50028800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:50021600-50023000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr13:50021600-50023000	Active TSS	GM12878-XiMat	blood
47	chr13:50021600-50025000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr13:50021600-50035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:50021800-50023200	Enhancers	HepG2	liver
50	chr13:50021800-50024600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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