Variant report

Variant	rs12057927
Chromosome Location	chr1:184451240-184451241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184450919..184451748-chrX:86853110..86853891,2	MCF-7	breast:
2	chr1:184386527..184389872-chr1:184450823..184453922,3	MCF-7	breast:
3	chr1:184442540..184447165-chr1:184447352..184452325,7	K562	blood:
4	chr1:184440449..184442376-chr1:184450326..184452605,2	MCF-7	breast:
5	chr1:184444403..184446209-chr1:184448861..184451561,2	MCF-7	breast:
6	chr1:184444198..184447165-chr1:184448690..184451724,3	K562	blood:
7	chr1:184450922..184452651-chr1:184453283..184455265,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10911595	1.00[MEX][hapmap]
rs12082456	0.98[AFR][1000 genomes]
rs13374072	0.84[ASW][hapmap];0.95[LWK][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1890654	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs34579903	0.94[AFR][1000 genomes]
rs7550048	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
2	chr1:184439200-184453600	Weak transcription	Fetal Brain Female	brain
3	chr1:184441000-184452000	Weak transcription	Colonic Mucosa	Colon
4	chr1:184444200-184453400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:184444400-184452000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:184444600-184452600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:184444600-184460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:184444800-184451600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:184444800-184452200	Weak transcription	Fetal Kidney	kidney
10	chr1:184446400-184452000	Weak transcription	Osteobl	bone
11	chr1:184446800-184451800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:184446800-184453000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:184447000-184454600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:184447200-184452200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:184447400-184453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:184447400-184457600	Enhancers	Fetal Intestine Small	intestine
17	chr1:184447800-184457000	Enhancers	Fetal Intestine Large	intestine
18	chr1:184448200-184452200	Weak transcription	HMEC	breast
19	chr1:184448400-184452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:184448800-184451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:184448800-184456400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:184449000-184451800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:184449000-184452200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:184449000-184453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:184449000-184456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:184449200-184451600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:184449200-184451800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:184449200-184453000	Enhancers	Placenta	Placenta
29	chr1:184449200-184460600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:184449400-184455200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:184449600-184451600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:184449600-184451800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:184449600-184452800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:184449600-184456600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:184449800-184454000	Enhancers	Left Ventricle	heart
36	chr1:184449800-184455200	Enhancers	Fetal Heart	heart
37	chr1:184449800-184457000	Enhancers	Colon Smooth Muscle	Colon
38	chr1:184449800-184457200	Enhancers	Adipose Nuclei	Adipose
39	chr1:184449800-184457200	Enhancers	Fetal Muscle Leg	muscle
40	chr1:184449800-184457400	Enhancers	Ovary	ovary
41	chr1:184449800-184457600	Enhancers	Right Atrium	heart
42	chr1:184449800-184459800	Enhancers	Psoas Muscle	Psoas
43	chr1:184450000-184451400	Strong transcription	NHEK	skin
44	chr1:184450000-184452000	Enhancers	NHLF	lung
45	chr1:184450000-184452600	Enhancers	Fetal Lung	lung
46	chr1:184450000-184455000	Weak transcription	Spleen	Spleen
47	chr1:184450000-184456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:184450000-184456000	Enhancers	Fetal Stomach	stomach
49	chr1:184450200-184452000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:184450200-184452200	Weak transcription	Small Intestine	intestine

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