Variant report

Variant	rs12178120
Chromosome Location	chr6:13352625-13352626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13347276..13349504-chr6:13352111..13353799,2	MCF-7	breast:
2	chr6:13351433..13354250-chr6:13354364..13357182,2	MCF-7	breast:
3	chr6:13330474..13332779-chr6:13351031..13352731,2	K562	blood:
4	chr6:13350961..13353865-chr6:13356804..13359373,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9463682	0.94[AFR][1000 genomes]
rs9474004	0.94[AFR][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	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13346800-13355400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13347200-13354200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:13349200-13353800	Weak transcription	K562	blood
4	chr6:13349200-13354200	Weak transcription	Esophagus	oesophagus
5	chr6:13350200-13354200	Weak transcription	Fetal Stomach	stomach
6	chr6:13350600-13353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:13350800-13353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:13350800-13364600	Weak transcription	Aorta	Aorta
9	chr6:13351200-13354000	Weak transcription	Right Atrium	heart
10	chr6:13351200-13355200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:13351400-13354200	Weak transcription	Left Ventricle	heart
12	chr6:13351600-13354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:13351600-13355200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:13351600-13357000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:13351600-13357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:13351800-13353800	Weak transcription	Placenta	Placenta
17	chr6:13351800-13354000	Weak transcription	Fetal Heart	heart
18	chr6:13351800-13354000	Weak transcription	Right Ventricle	heart
19	chr6:13351800-13354600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:13351800-13354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:13351800-13355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:13351800-13355200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:13351800-13355400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:13351800-13355600	Weak transcription	Brain Angular Gyrus	brain
25	chr6:13351800-13355800	Weak transcription	Fetal Brain Female	brain
26	chr6:13352000-13353400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:13352000-13353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:13352000-13354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:13352000-13354000	Weak transcription	NHEK	skin
30	chr6:13352000-13354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:13352000-13354200	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:13352000-13354600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:13352000-13354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:13352000-13354600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:13352000-13354600	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:13352000-13355000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:13352000-13355000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:13352000-13355200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:13352000-13355400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:13352000-13355400	Weak transcription	Brain Substantia Nigra	brain
41	chr6:13352000-13356800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:13352000-13357200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:13352200-13353000	Weak transcription	Fetal Thymus	thymus

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