Variant report

Variant	rs7990424
Chromosome Location	chr13:50076207-50076208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50072641..50077099-chr13:50079863..50082927,4	MCF-7	breast:
2	chr13:50033311..50035354-chr13:50074002..50076664,2	MCF-7	breast:
3	chr13:50069004..50071273-chr13:50075738..50077658,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136147	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17072932	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17072933	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60723161	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67216195	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7318481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73188685	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73188686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324615	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7324805	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7358961	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7994710	0.90[ASN][1000 genomes]
rs7998078	0.90[ASN][1000 genomes]
rs7998996	0.90[ASN][1000 genomes]
rs9591262	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591264	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596107	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596108	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596110	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596111	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596112	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596116	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596127	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	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
8	nsv561614	chr13:50042983-50086253	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv561615	chr13:50042983-50086266	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070800-50076400	Weak transcription	Fetal Lung	lung
3	chr13:50070800-50076800	Weak transcription	Left Ventricle	heart
4	chr13:50070800-50077000	Weak transcription	Gastric	stomach
5	chr13:50070800-50086600	Weak transcription	Psoas Muscle	Psoas
6	chr13:50070800-50086800	Weak transcription	Ovary	ovary
7	chr13:50070800-50087400	Weak transcription	Placenta	Placenta
8	chr13:50070800-50087600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:50070800-50087800	Weak transcription	Aorta	Aorta
10	chr13:50070800-50087800	Weak transcription	NHEK	skin
11	chr13:50070800-50088000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:50070800-50088000	Weak transcription	Brain Anterior Caudate	brain
13	chr13:50070800-50088000	Weak transcription	Esophagus	oesophagus
14	chr13:50070800-50088000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
17	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
18	chr13:50071000-50076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:50071000-50076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:50071000-50076800	Weak transcription	Adipose Nuclei	Adipose
21	chr13:50071000-50077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:50071000-50077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:50071000-50077800	Weak transcription	Fetal Intestine Small	intestine
24	chr13:50071000-50078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:50071000-50079800	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:50071000-50087800	Weak transcription	Colonic Mucosa	Colon
27	chr13:50071000-50087800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:50071000-50087800	Weak transcription	Right Ventricle	heart
29	chr13:50071000-50088000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:50071000-50093400	Weak transcription	HepG2	liver
31	chr13:50071200-50081600	Weak transcription	Thymus	Thymus
32	chr13:50071400-50076800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:50071400-50081600	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:50071400-50087000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:50071400-50087200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:50071600-50078400	Strong transcription	Fetal Thymus	thymus
37	chr13:50071800-50087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:50071800-50088000	Weak transcription	Pancreas	Pancrea
39	chr13:50072000-50078400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr13:50072200-50076800	Weak transcription	Spleen	Spleen
41	chr13:50072200-50077200	Weak transcription	Lung	lung
42	chr13:50072600-50078000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:50073200-50078400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr13:50073800-50081600	Weak transcription	Liver	Liver
45	chr13:50074000-50076800	Weak transcription	Fetal Intestine Large	intestine
46	chr13:50074000-50077200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr13:50074400-50077000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:50074400-50077600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:50074600-50076600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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