Variant report

Variant	rs12582981
Chromosome Location	chr12:120569998-120569999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120568196..120572672-chr12:120576593..120580624,4	K562	blood:
2	chr12:120568619..120571551-chr12:120574551..120576415,2	K562	blood:
3	chr12:120569732..120572593-chr12:120637429..120638936,2	MCF-7	breast:
4	chr12:120568428..120573002-chr12:120580087..120584233,4	MCF-7	breast:
5	chr12:120569171..120570951-chr12:120586181..120588091,2	MCF-7	breast:
6	chr12:120567390..120569077-chr12:120569460..120570984,2	MCF-7	breast:
7	chr12:120554685..120559906-chr12:120569138..120571499,5	MCF-7	breast:
8	chr12:120565149..120566819-chr12:120568188..120570329,2	K562	blood:
9	chr12:120569277..120571459-chr12:120572398..120574057,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1151826	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1151828	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1151835	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1151836	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs1179386	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs12580868	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1634820	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2239207	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2283363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2701641	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs3847968	1.00[CHB][hapmap]
rs4503602	1.00[YRI][hapmap]
rs56049778	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56130412	1.00[ASN][1000 genomes]
rs57781745	1.00[AMR][1000 genomes]
rs60287150	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120556800-120571800	Weak transcription	Fetal Brain Male	brain
2	chr12:120556800-120578200	Weak transcription	Fetal Heart	heart
3	chr12:120563000-120580200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120563000-120580200	Strong transcription	A549	lung
5	chr12:120563000-120588000	Strong transcription	HSMM	muscle
6	chr12:120563000-120596800	Strong transcription	Stomach Smooth Muscle	stomach
7	chr12:120563000-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:120563000-120629800	Strong transcription	Fetal Stomach	stomach
9	chr12:120563000-120630200	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:120563200-120602800	Strong transcription	Brain Germinal Matrix	brain
11	chr12:120563200-120630400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:120563400-120570400	Strong transcription	Fetal Intestine Large	intestine
13	chr12:120563400-120616200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:120563400-120629200	Strong transcription	Fetal Intestine Small	intestine
15	chr12:120563400-120630200	Strong transcription	Fetal Thymus	thymus
16	chr12:120563600-120574600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:120563600-120580400	Strong transcription	Pancreas	Pancrea
18	chr12:120563600-120583600	Strong transcription	Fetal Brain Female	brain
19	chr12:120563600-120596400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120563600-120602400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:120563600-120603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:120563600-120603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:120563600-120605600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:120563600-120626000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr12:120563600-120626200	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr12:120563600-120629000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:120563600-120630200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:120563600-120630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:120563600-120630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:120563600-120630200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:120563600-120630200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:120563800-120581000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:120563800-120582600	Strong transcription	Liver	Liver
34	chr12:120563800-120602600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:120563800-120602600	Strong transcription	Primary T cells from cord blood	blood
36	chr12:120563800-120602600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:120563800-120602800	Strong transcription	Dnd41	blood
38	chr12:120563800-120603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:120563800-120629800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr12:120563800-120630000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:120563800-120630200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:120564000-120580800	Strong transcription	HMEC	breast
43	chr12:120564000-120581200	Strong transcription	NHEK	skin
44	chr12:120564000-120583400	Strong transcription	Hela-S3	cervix
45	chr12:120564000-120603600	Strong transcription	Brain Angular Gyrus	brain
46	chr12:120564000-120603800	Strong transcription	Thymus	Thymus
47	chr12:120564200-120594200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:120564200-120624400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:120564200-120629600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:120564400-120571000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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