Variant report

Variant	rs75377998
Chromosome Location	chr12:42983135-42983136
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	chr12:42982698..42983359-chr12:43198437..43199068,2	MCF-7	breast:
2	chr12:42982822..42983322-chr12:43730434..43730991,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3361465	chr12:42982310-42984858	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3339962	chr12:42982685-42984683	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
3	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
5	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
6	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:42981200-42985000	Active TSS	Right Atrium	heart
9	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
12	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
13	chr12:42981600-42983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:42981600-42983200	Active TSS	Fetal Heart	heart
15	chr12:42981600-42983200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:42981600-42984200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:42981600-42984400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
19	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
20	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr12:42981800-42983200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:42981800-42984600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:42981800-42984800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr12:42982000-42983400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:42982000-42984000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:42982000-42984000	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr12:42982000-42984000	Active TSS	HSMM	muscle
28	chr12:42982000-42984000	Active TSS	HUVEC	blood vessel
29	chr12:42982000-42984000	Active TSS	NH-A	brain
30	chr12:42982000-42984800	Active TSS	Aorta	Aorta
31	chr12:42982000-42984800	Active TSS	Left Ventricle	heart
32	chr12:42982000-42984800	Active TSS	Ovary	ovary
33	chr12:42982000-42985000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:42982200-42983400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:42982200-42984000	Active TSS	Fetal Lung	lung
36	chr12:42982200-42984000	Active TSS	HMEC	breast
37	chr12:42982200-42984000	Active TSS	Osteobl	bone
38	chr12:42982200-42984200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:42982200-42984400	Active TSS	Rectal Smooth Muscle	rectum
40	chr12:42982400-42983200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
41	chr12:42982400-42983200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:42982400-42983200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr12:42982400-42983400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
44	chr12:42982400-42983800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr12:42982400-42984200	Active TSS	Colon Smooth Muscle	Colon
46	chr12:42982400-42984200	Active TSS	Lung	lung
47	chr12:42982400-42984200	Active TSS	Stomach Smooth Muscle	stomach
48	chr12:42982400-42984400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:42982400-42984400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr12:42982400-42984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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