Variant report

Variant	rs66849216
Chromosome Location	chr12:29766006-29766007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29764406..29766975-chr12:29770947..29773354,2	MCF-7	breast:
2	chr12:29765447..29767500-chr12:29770091..29771858,2	MCF-7	breast:
3	chr12:29761123..29765125-chr12:29765200..29767546,3	K562	blood:
4	chr12:29761123..29763974-chr12:29765372..29767546,2	K562	blood:

Variant related genes	Relation type
ENSG00000133687	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11837554	0.81[EUR][1000 genomes]
rs12811228	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12816393	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12822100	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12826893	0.80[EUR][1000 genomes]
rs12828728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16934569	0.94[EUR][1000 genomes]
rs16934597	0.94[EUR][1000 genomes]
rs16934635	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966531	0.90[EUR][1000 genomes]
rs55807951	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55875020	0.85[EUR][1000 genomes]
rs56178040	0.97[EUR][1000 genomes]
rs57072643	0.86[EUR][1000 genomes]
rs66750226	0.89[EUR][1000 genomes]
rs67491988	0.94[EUR][1000 genomes]
rs73073417	0.90[EUR][1000 genomes]
rs73073419	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1051913	chr12:29741676-29770807	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
2	chr12:29743200-29769800	Weak transcription	NHLF	lung
3	chr12:29744400-29790800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:29744600-29791000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:29744800-29778200	Weak transcription	Ovary	ovary
6	chr12:29752600-29768400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:29752600-29778200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29757200-29766200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:29760400-29787400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:29760800-29767000	Weak transcription	Pancreas	Pancrea
11	chr12:29761800-29778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:29762400-29769600	Weak transcription	HMEC	breast
13	chr12:29762600-29770400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:29762800-29770000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:29763000-29777400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:29763000-29777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:29763200-29766400	Enhancers	Osteobl	bone
18	chr12:29763200-29777600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:29763400-29766200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:29763400-29766600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:29763800-29773000	Weak transcription	Left Ventricle	heart
22	chr12:29763800-29778000	Weak transcription	Fetal Stomach	stomach
23	chr12:29763800-29786800	Weak transcription	Spleen	Spleen
24	chr12:29763800-29793600	Weak transcription	Right Ventricle	heart
25	chr12:29764600-29766400	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr12:29764600-29766600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:29764800-29766600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:29764800-29766600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:29764800-29766800	Enhancers	NHDF-Ad	bronchial
30	chr12:29764800-29770200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:29765000-29780800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:29765000-29786800	Weak transcription	HSMMtube	muscle
33	chr12:29765200-29770800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:29765200-29773600	Weak transcription	Right Atrium	heart
35	chr12:29765200-29777600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:29765200-29778200	Weak transcription	Aorta	Aorta
37	chr12:29765200-29785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:29765400-29766200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:29765400-29769600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:29765400-29769800	Weak transcription	Fetal Heart	heart
41	chr12:29765400-29777400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:29765400-29777400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:29765400-29780800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:29765600-29766400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:29765600-29802600	Weak transcription	Psoas Muscle	Psoas
46	chr12:29765800-29766400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:29765800-29766600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:29766000-29766600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:29766000-29768200	Strong transcription	HSMM	muscle
50	chr12:29766000-29770400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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