Variant report

Variant	rs629499
Chromosome Location	chr12:63261890-63261891
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63255458..63258217-chr12:63260848..63263139,2	MCF-7	breast:
2	chr12:63248497..63250769-chr12:63260059..63262158,2	MCF-7	breast:
3	chr12:63260158..63264907-chr12:63265796..63270388,6	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2594711	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs479356	0.88[AMR][1000 genomes]
rs481867	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs482794	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540694	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs572873	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs575657	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599969	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688624	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs699567	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699568	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs771973	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:63253000-63262000	Enhancers	Osteobl	bone
2	chr12:63254400-63262000	Enhancers	HSMM	muscle
3	chr12:63255000-63262400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:63256000-63262000	Weak transcription	Ovary	ovary
5	chr12:63256400-63262200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:63257800-63262600	Enhancers	Brain Substantia Nigra	brain
7	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:63258400-63262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:63258600-63262200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:63258800-63262000	Enhancers	NHLF	lung
11	chr12:63258800-63264400	Enhancers	HepG2	liver
12	chr12:63259000-63262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63259800-63262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:63259800-63263400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:63260000-63262000	Enhancers	Adipose Nuclei	Adipose
16	chr12:63260000-63262200	Enhancers	K562	blood
17	chr12:63260200-63262200	Enhancers	Fetal Heart	heart
18	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
19	chr12:63260400-63262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:63260400-63262000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:63260600-63262200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:63260600-63262600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:63260600-63270600	Weak transcription	Aorta	Aorta
24	chr12:63260800-63262000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:63260800-63262000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:63260800-63267000	Weak transcription	Placenta	Placenta
27	chr12:63260800-63270000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63261000-63262000	Weak transcription	Stomach Mucosa	stomach
30	chr12:63261000-63262000	Enhancers	Hela-S3	cervix
31	chr12:63261000-63264800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:63261200-63262000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:63261200-63262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:63261200-63262000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:63261200-63265800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:63261200-63275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:63261400-63262200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:63261400-63262200	Enhancers	Right Atrium	heart
40	chr12:63261400-63262600	Enhancers	A549	lung
41	chr12:63261400-63262800	Enhancers	Left Ventricle	heart
42	chr12:63261400-63266800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:63261600-63262000	Enhancers	Right Ventricle	heart
44	chr12:63261600-63262200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:63261600-63262800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:63261600-63262800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:63261800-63262000	Enhancers	Gastric	stomach
48	chr12:63261800-63262200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:63261800-63262200	Enhancers	Fetal Lung	lung
50	chr12:63261800-63263800	Weak transcription	Brain Anterior Caudate	brain

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