Variant report

Variant	rs13168120
Chromosome Location	chr5:50125417-50125418
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	chr5:50122348..50124028-chr5:50124117..50125692,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12656200	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12658769	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13158037	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13170746	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16884728	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34776244	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35940648	0.86[AMR][1000 genomes]
rs56187641	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365520	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62366935	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62366936	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62368280	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62368283	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71615982	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7700817	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7719213	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7723602	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50056800-50126400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:50064000-50126800	Weak transcription	Osteobl	bone
3	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
4	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:50085400-50136200	Weak transcription	Thymus	Thymus
6	chr5:50091200-50130400	Weak transcription	Pancreas	Pancrea
7	chr5:50091200-50133600	Weak transcription	Lung	lung
8	chr5:50091200-50136000	Weak transcription	Gastric	stomach
9	chr5:50091200-50140600	Weak transcription	Small Intestine	intestine
10	chr5:50096000-50132200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:50100200-50139400	Weak transcription	Ovary	ovary
12	chr5:50104600-50129400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:50104600-50136200	Weak transcription	NHEK	skin
14	chr5:50108000-50135000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:50108200-50142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:50109400-50141800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:50109600-50129000	Strong transcription	Dnd41	blood
18	chr5:50109800-50134400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:50109800-50136400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:50110000-50141800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:50110400-50128000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:50110400-50133400	Strong transcription	Primary B cells from cord blood	blood
23	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:50110600-50134600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:50110800-50132000	Weak transcription	Brain Substantia Nigra	brain
27	chr5:50110800-50133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:50110800-50140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:50111000-50140800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:50111200-50141600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:50111400-50127000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:50113000-50139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:50114800-50134000	Weak transcription	Fetal Intestine Small	intestine
34	chr5:50115000-50138000	Weak transcription	Fetal Stomach	stomach
35	chr5:50115400-50133200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:50115800-50133400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:50117400-50129600	Weak transcription	Fetal Brain Male	brain
38	chr5:50118200-50130600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:50118600-50139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:50119000-50128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:50119200-50131000	Weak transcription	Aorta	Aorta
42	chr5:50119200-50139800	Weak transcription	Spleen	Spleen
43	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:50119800-50132800	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:50120200-50133600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:50122000-50126400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:50122200-50135000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:50122400-50125600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:50122400-50127200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:50122600-50128200	Weak transcription	Fetal Kidney	kidney

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