Variant report

Variant	rs2178750
Chromosome Location	chr12:42981646-42981647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42975394..42979509-chr12:42980340..42982880,4	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1622435	1.00[YRI][hapmap]
rs1922763	1.00[AFR][1000 genomes]
rs2708033	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2708035	0.86[AFR][1000 genomes]
rs4768423	0.82[AFR][1000 genomes]
rs4768431	0.83[YRI][hapmap]
rs7970092	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7972689	0.82[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42979800-42982400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42980600-42981800	Weak transcription	Spleen	Spleen
4	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
5	chr12:42980800-42982000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:42980800-42982200	Flanking Active TSS	HMEC	breast
7	chr12:42980800-42982200	Flanking Active TSS	Osteobl	bone
8	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:42981000-42981800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:42981000-42981800	Enhancers	Fetal Brain Female	brain
12	chr12:42981000-42981800	Bivalent Enhancer	HepG2	liver
13	chr12:42981000-42982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:42981000-42982200	Bivalent Enhancer	A549	lung
15	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
16	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
17	chr12:42981200-42981800	Active TSS	Adipose Nuclei	Adipose
18	chr12:42981200-42981800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:42981200-42981800	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr12:42981200-42981800	Active TSS	NHLF	lung
21	chr12:42981200-42982000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:42981200-42982000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr12:42981200-42982000	Enhancers	Colon Smooth Muscle	Colon
24	chr12:42981200-42982200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr12:42981200-42982400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:42981200-42985000	Active TSS	Right Atrium	heart
31	chr12:42981400-42981800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr12:42981400-42981800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:42981400-42981800	Enhancers	Aorta	Aorta
34	chr12:42981400-42982200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr12:42981400-42982200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:42981400-42982200	Flanking Active TSS	Fetal Lung	lung
37	chr12:42981400-42982400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr12:42981400-42982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:42981400-42982400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:42981400-42982400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr12:42981400-42982400	Enhancers	Stomach Mucosa	stomach
42	chr12:42981400-42982600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:42981400-42982600	Flanking Active TSS	NHEK	skin
44	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
47	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
48	chr12:42981600-42981800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:42981600-42981800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:42981600-42981800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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