Variant report

Variant	rs59041050
Chromosome Location	chr12:86229688-86229689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86229619..86230190-chr5:141302910..141303768,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000081791	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10506915	1.00[AMR][1000 genomes]
rs56752400	1.00[AMR][1000 genomes]
rs60845793	1.00[AMR][1000 genomes]
rs61370681	1.00[AMR][1000 genomes]
rs7315142	1.00[AMR][1000 genomes]
rs73375751	1.00[AMR][1000 genomes]
rs73378149	1.00[AMR][1000 genomes]
rs73383789	1.00[AMR][1000 genomes]
rs73385717	1.00[AMR][1000 genomes]
rs73385727	1.00[AMR][1000 genomes]
rs73392057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86224800-86230400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:86226800-86230400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:86227200-86230600	Active TSS	Right Atrium	heart
4	chr12:86227400-86230200	Active TSS	HMEC	breast
5	chr12:86227600-86230400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:86227600-86230600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:86227800-86230400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:86227800-86230400	Active TSS	Aorta	Aorta
9	chr12:86227800-86230400	Active TSS	Fetal Stomach	stomach
10	chr12:86227800-86231000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:86228000-86230200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:86228000-86230400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:86228000-86230400	Active TSS	Hela-S3	cervix
14	chr12:86228000-86230600	Active TSS	Fetal Kidney	kidney
15	chr12:86228200-86229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:86228200-86230400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr12:86228200-86230400	Active TSS	A549	lung
18	chr12:86228400-86230000	Active TSS	NH-A	brain
19	chr12:86228400-86230200	Active TSS	Adipose Nuclei	Adipose
20	chr12:86228400-86230200	Active TSS	NHEK	skin
21	chr12:86228400-86230400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:86228400-86230400	Active TSS	Osteobl	bone
23	chr12:86228600-86229800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:86228800-86230400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:86228800-86230400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:86229000-86230400	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:86229000-86230400	Active TSS	Fetal Muscle Leg	muscle
28	chr12:86229000-86230400	Active TSS	Psoas Muscle	Psoas
29	chr12:86229200-86229800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:86229200-86229800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:86229200-86229800	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:86229200-86229800	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr12:86229200-86230000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:86229200-86230000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:86229200-86230000	Enhancers	HepG2	liver
36	chr12:86229200-86230400	Active TSS	Fetal Heart	heart
37	chr12:86229200-86230400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr12:86229200-86230400	Active TSS	Fetal Lung	lung
39	chr12:86229200-86230400	Active TSS	Left Ventricle	heart
40	chr12:86229200-86230400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr12:86229200-86230400	Active TSS	Stomach Smooth Muscle	stomach
42	chr12:86229200-86230600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:86229200-86230600	Active TSS	Right Ventricle	heart
44	chr12:86229200-86230800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:86229200-86230800	Active TSS	Colon Smooth Muscle	Colon
46	chr12:86229400-86229800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr12:86229400-86229800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr12:86229400-86230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:86229400-86230000	Active TSS	Stomach Mucosa	stomach
50	chr12:86229400-86230200	Active TSS	Brain Hippocampus Middle	brain

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