Variant report

Variant	rs73366951
Chromosome Location	chr6:13421494-13421495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13419746..13422416-chr6:13574078..13576571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12527593	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12528480	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16874132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16874145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874152	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16874153	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16874155	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56676493	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61017983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6914294	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926083	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73366922	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73366931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366960	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73366970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73725822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740220	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9370100	0.83[EUR][1000 genomes];0.94[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:13408600-13422600	Weak transcription	HSMM	muscle
3	chr6:13408800-13423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:13411400-13421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:13411600-13424200	Enhancers	Right Ventricle	heart
6	chr6:13414000-13421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:13414000-13421800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:13414000-13422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:13414600-13422000	Weak transcription	NHLF	lung
10	chr6:13415400-13422600	Weak transcription	Gastric	stomach
11	chr6:13417200-13424200	Enhancers	Brain Angular Gyrus	brain
12	chr6:13417600-13422000	Enhancers	Brain Hippocampus Middle	brain
13	chr6:13417600-13424000	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:13417800-13424000	Enhancers	Adipose Nuclei	Adipose
15	chr6:13417800-13424200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:13417800-13424200	Enhancers	Left Ventricle	heart
17	chr6:13417800-13424600	Enhancers	Right Atrium	heart
18	chr6:13417800-13424800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:13417800-13427000	Enhancers	Psoas Muscle	Psoas
20	chr6:13418200-13421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:13418200-13421800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:13418400-13421800	Weak transcription	Fetal Kidney	kidney
23	chr6:13418800-13421800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:13418800-13422600	Weak transcription	HepG2	liver
25	chr6:13418800-13422600	Enhancers	HUVEC	blood vessel
26	chr6:13418800-13422800	Enhancers	Fetal Heart	heart
27	chr6:13419200-13424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:13419200-13428200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:13419400-13424000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr6:13419400-13429800	Enhancers	Fetal Lung	lung
31	chr6:13419600-13422200	Enhancers	Fetal Thymus	thymus
32	chr6:13419600-13422600	Enhancers	Lung	lung
33	chr6:13419600-13424200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:13419800-13421800	Weak transcription	Aorta	Aorta
35	chr6:13419800-13422800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:13419800-13422800	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:13420000-13421800	Enhancers	Brain Anterior Caudate	brain
38	chr6:13420000-13422400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:13420000-13423000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:13420000-13424000	Enhancers	Brain Substantia Nigra	brain
41	chr6:13420200-13422600	Enhancers	HSMMtube	muscle
42	chr6:13420200-13427600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:13420200-13430000	Enhancers	Fetal Stomach	stomach
44	chr6:13420400-13421800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:13420400-13422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:13420400-13422200	Enhancers	GM12878-XiMat	blood
47	chr6:13420400-13422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:13420400-13422800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:13420400-13423000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:13420400-13423200	Enhancers	Colon Smooth Muscle	Colon

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