Variant report

Variant	rs148713688
Chromosome Location	chr12:42981413-42981414
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:
2	chr12:42978457..42981553-chr12:42981984..42984862,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42979200-42981600	Flanking Active TSS	HUVEC	blood vessel
2	chr12:42979800-42982400	Weak transcription	Psoas Muscle	Psoas
3	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:42980600-42981800	Weak transcription	Spleen	Spleen
5	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
6	chr12:42980800-42982000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:42980800-42982200	Flanking Active TSS	HMEC	breast
8	chr12:42980800-42982200	Flanking Active TSS	Osteobl	bone
9	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:42981000-42981600	Flanking Active TSS	NH-A	brain
12	chr12:42981000-42981800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:42981000-42981800	Enhancers	Fetal Brain Female	brain
14	chr12:42981000-42981800	Bivalent Enhancer	HepG2	liver
15	chr12:42981000-42982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:42981000-42982200	Bivalent Enhancer	A549	lung
17	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
18	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
19	chr12:42981200-42981600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:42981200-42981600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:42981200-42981600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:42981200-42981600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:42981200-42981600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:42981200-42981600	Flanking Active TSS	Fetal Heart	heart
25	chr12:42981200-42981600	Flanking Active TSS	Fetal Kidney	kidney
26	chr12:42981200-42981600	Flanking Active TSS	Fetal Stomach	stomach
27	chr12:42981200-42981600	Flanking Active TSS	HSMM	muscle
28	chr12:42981200-42981800	Active TSS	Adipose Nuclei	Adipose
29	chr12:42981200-42981800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:42981200-42981800	Bivalent Enhancer	NHDF-Ad	bronchial
31	chr12:42981200-42981800	Active TSS	NHLF	lung
32	chr12:42981200-42982000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:42981200-42982000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr12:42981200-42982000	Enhancers	Colon Smooth Muscle	Colon
35	chr12:42981200-42982200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr12:42981200-42982400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:42981200-42985000	Active TSS	Right Atrium	heart
42	chr12:42981400-42981600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr12:42981400-42981600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:42981400-42981600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr12:42981400-42981600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:42981400-42981600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:42981400-42981600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:42981400-42981600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:42981400-42981600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:42981400-42981600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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