Variant report

Variant	rs12563052
Chromosome Location	chr1:78437554-78437555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78435772..78437977-chr1:78438825..78441558,2	MCF-7	breast:
2	chr1:78224281..78226178-chr1:78436079..78437908,2	K562	blood:
3	chr1:78436988..78440391-chr1:78442144..78445660,4	MCF-7	breast:
4	chr1:78432055..78439376-chr1:78440995..78447364,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137960	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000077254	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7528905	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv518855	chr1:78416669-78456355	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78405800-78442200	Strong transcription	Fetal Thymus	thymus
2	chr1:78406600-78440600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:78407400-78437600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:78407400-78437800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:78408000-78437600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:78408400-78439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:78411800-78438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:78415800-78437600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:78415800-78440200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:78416400-78438200	Strong transcription	HMEC	breast
11	chr1:78417200-78438000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:78418400-78438000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:78418400-78438200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr1:78418400-78440800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:78420800-78438200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:78421200-78437800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:78424600-78440600	Weak transcription	Stomach Mucosa	stomach
18	chr1:78426400-78439600	Weak transcription	Spleen	Spleen
19	chr1:78428600-78438200	Strong transcription	Fetal Intestine Large	intestine
20	chr1:78429600-78441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:78430200-78438600	Strong transcription	NHEK	skin
22	chr1:78430800-78440800	Weak transcription	Psoas Muscle	Psoas
23	chr1:78432200-78441400	Weak transcription	Thymus	Thymus
24	chr1:78432200-78442400	Weak transcription	Esophagus	oesophagus
25	chr1:78432400-78439000	Weak transcription	Fetal Stomach	stomach
26	chr1:78432400-78440600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:78432400-78440800	Weak transcription	Brain Germinal Matrix	brain
28	chr1:78432400-78441200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:78432400-78441200	Weak transcription	Aorta	Aorta
30	chr1:78432400-78442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:78432400-78442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:78432400-78442400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:78432600-78438000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:78432600-78440000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:78432600-78443400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:78432800-78441400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:78433000-78440600	Weak transcription	Fetal Heart	heart
38	chr1:78433000-78440600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:78433200-78440600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:78433600-78438200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:78433800-78440800	Weak transcription	Brain Substantia Nigra	brain
42	chr1:78433800-78441600	Weak transcription	Colonic Mucosa	Colon
43	chr1:78433800-78443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:78434800-78439400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:78434800-78440000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:78434800-78440200	Weak transcription	NHLF	lung
47	chr1:78434800-78440600	Weak transcription	Brain Angular Gyrus	brain
48	chr1:78434800-78440600	Weak transcription	Brain Anterior Caudate	brain
49	chr1:78434800-78440600	Weak transcription	Fetal Brain Female	brain
50	chr1:78434800-78440800	Weak transcription	Fetal Lung	lung

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