Variant report

Variant	rs11054849
Chromosome Location	chr12:12515996-12515997
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	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
2	chr12:12509503..12512182-chr12:12513037..12516438,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205791	Chromatin interaction
ENSG00000165714	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11054833	0.86[EUR][1000 genomes]
rs11054846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054847	1.00[ASN][1000 genomes]
rs1544683	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34584825	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34635703	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35165703	0.81[EUR][1000 genomes]
rs35737962	0.83[EUR][1000 genomes]
rs36058772	0.87[EUR][1000 genomes]
rs71457145	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73279320	0.88[EUR][1000 genomes]
rs7969816	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7977450	0.88[EUR][1000 genomes]

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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv1052243	chr12:12512726-12541869	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1051597	chr12:12513364-12541869	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv557584	chr12:12514203-12541869	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv818893	chr12:12515184-12541869	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12518000	Weak transcription	Gastric	stomach
2	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
6	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:12511400-12518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:12511400-12518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:12511400-12518800	Weak transcription	Placenta	Placenta
11	chr12:12511400-12519000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:12511400-12519000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:12511400-12519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:12511400-12519000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
16	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
18	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
19	chr12:12511400-12540600	Weak transcription	HSMM	muscle
20	chr12:12511600-12516400	Weak transcription	Right Ventricle	heart
21	chr12:12511600-12517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:12511600-12518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:12511600-12518000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:12511600-12518000	Weak transcription	Aorta	Aorta
25	chr12:12511600-12518600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:12511600-12518800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12511600-12518800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:12511600-12518800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:12511600-12519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
31	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:12511600-12532800	Weak transcription	Osteobl	bone
33	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:12511800-12516800	Weak transcription	A549	lung
36	chr12:12511800-12518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:12511800-12518600	Weak transcription	Brain Germinal Matrix	brain
38	chr12:12511800-12519000	Weak transcription	Fetal Brain Male	brain
39	chr12:12511800-12519200	Weak transcription	Primary B cells from cord blood	blood
40	chr12:12511800-12520000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:12511800-12520800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:12511800-12526200	Weak transcription	Liver	Liver
43	chr12:12511800-12526800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:12512000-12517400	Weak transcription	Fetal Brain Female	brain
46	chr12:12512000-12517800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:12512000-12517800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:12512000-12517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:12512000-12518800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:12512000-12518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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