Variant report

Variant	rs561412252
Chromosome Location	chr12:30960281-30960282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29672644..29673178-chr12:30960221..30960740,2	MCF-7	breast:
2	chr12:30906077..30907065-chr12:30960106..30960961,3	K562	blood:
3	chr12:30907615..30908171-chr12:30960029..30960907,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246331	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000257456	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30956600-30964800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:30957600-30966400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:30958000-30960400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:30958400-30960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:30958600-30960400	Enhancers	HMEC	breast
6	chr12:30958600-30960600	Enhancers	NHEK	skin
7	chr12:30959200-30966600	Weak transcription	Fetal Kidney	kidney
8	chr12:30960000-30960400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:30960000-30960400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:30960000-30960400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:30960000-30960600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:30960000-30960600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:30960000-30960600	Enhancers	Fetal Heart	heart
14	chr12:30960000-30960600	Enhancers	HUVEC	blood vessel
15	chr12:30960000-30960600	Active TSS	K562	blood
16	chr12:30960000-30960800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:30960200-30960400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:30960200-30960400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:30960200-30960400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:30960200-30960400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:30960200-30960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:30960200-30960400	Bivalent Enhancer	Placenta	Placenta
23	chr12:30960200-30960400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:30960200-30960400	ZNF genes & repeats	A549	lung
25	chr12:30960200-30960400	Enhancers	NHLF	lung
26	chr12:30960200-30960600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:30960200-30960600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:30960200-30960600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:30960200-30960600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:30960200-30960600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:30960200-30960600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:30960200-30960600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:30960200-30960600	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:30960200-30960600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:30960200-30960600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:30960200-30960600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:30960200-30960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:30960200-30960600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:30960200-30960600	Enhancers	Adipose Nuclei	Adipose
40	chr12:30960200-30960600	Flanking Active TSS	Liver	Liver
41	chr12:30960200-30960600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:30960200-30960600	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:30960200-30960600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:30960200-30960600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:30960200-30960600	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr12:30960200-30960600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:30960200-30960600	Enhancers	Gastric	stomach
48	chr12:30960200-30960600	Enhancers	Left Ventricle	heart
49	chr12:30960200-30960600	Enhancers	Pancreas	Pancrea
50	chr12:30960200-30960600	Enhancers	Psoas Muscle	Psoas

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