Variant report

Variant	rs4420362
Chromosome Location	chr12:33045776-33045777
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	chr12:32907053..32910667-chr12:33044491..33046664,3	MCF-7	breast:
2	chr12:33044433..33046332-chr12:33070929..33073660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139131	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2045171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2045173	0.83[AMR][1000 genomes]
rs4479073	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931049	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7308045	0.82[JPT][hapmap]
rs7977818	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7979825	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32997800-33046000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:33035000-33047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:33039000-33047600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:33042400-33046000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:33042600-33046000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:33042800-33048400	Weak transcription	Pancreas	Pancrea
7	chr12:33043600-33046000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:33044000-33045800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:33044000-33046200	Enhancers	HUVEC	blood vessel
10	chr12:33044000-33047600	Enhancers	Fetal Intestine Small	intestine
11	chr12:33044000-33048200	Enhancers	Fetal Intestine Large	intestine
12	chr12:33044200-33047600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:33044400-33046000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:33044400-33046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:33044400-33047600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:33044600-33046000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:33044600-33047000	Flanking Active TSS	NHEK	skin
18	chr12:33044600-33048200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:33044600-33048400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:33044600-33048400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:33044600-33048600	Active TSS	Left Ventricle	heart
22	chr12:33044600-33049200	Active TSS	Right Ventricle	heart
23	chr12:33044600-33050600	Active TSS	Right Atrium	heart
24	chr12:33044800-33045800	Weak transcription	Primary T cells from cord blood	blood
25	chr12:33044800-33046000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:33044800-33046000	Enhancers	Placenta	Placenta
27	chr12:33044800-33047400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:33045000-33045800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:33045000-33046000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:33045000-33046000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:33045000-33047600	Enhancers	Liver	Liver
32	chr12:33045000-33048400	Weak transcription	Brain Anterior Caudate	brain
33	chr12:33045200-33046000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:33045200-33046000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr12:33045200-33046200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:33045200-33046200	Enhancers	NH-A	brain
37	chr12:33045200-33046600	Weak transcription	K562	blood
38	chr12:33045400-33045800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:33045400-33045800	Weak transcription	Stomach Mucosa	stomach
40	chr12:33045400-33046000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:33045400-33046000	Weak transcription	Fetal Heart	heart
42	chr12:33045400-33046000	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:33045400-33046200	Weak transcription	Colonic Mucosa	Colon
44	chr12:33045400-33046400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:33045400-33047000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:33045600-33045800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:33045600-33046000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:33045600-33046000	Enhancers	Hela-S3	cervix
50	chr12:33045600-33046000	Enhancers	HepG2	liver

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