Variant report

Variant	rs2152051
Chromosome Location	chr1:155912486-155912487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155910241..155913815-chr1:155925549..155931886,5	K562	blood:
2	chr1:155912056..155914225-chr1:155973245..155974818,2	MCF-7	breast:
3	chr1:155910162..155912916-chr1:156023785..156027040,3	K562	blood:
4	chr1:155901793..155904687-chr1:155910352..155912592,3	MCF-7	breast:
5	chr1:155907837..155914260-chr1:155947632..155952579,11	MCF-7	breast:
6	chr1:155911985..155914446-chr1:156022799..156025183,3	K562	blood:
7	chr1:155912393..155915782-chr1:156029437..156032638,3	K562	blood:
8	chr1:155911063..155912721-chr1:155931066..155933374,2	MCF-7	breast:
9	chr1:155911716..155914399-chr1:155957964..155960945,2	MCF-7	breast:
10	chr1:155909425..155917901-chr1:155919093..155927049,14	K562	blood:
11	chr1:155902449..155905054-chr1:155910368..155915421,5	MCF-7	breast:
12	chr1:155911219..155915431-chr1:155946632..155949866,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132680	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000273002	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000132698	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2152050	0.94[AFR][1000 genomes]
rs550092	0.84[AFR][1000 genomes]
rs605472	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6427292	0.82[AFR][1000 genomes]
rs6687169	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6693485	0.89[AMR][1000 genomes]
rs822516	0.81[YRI][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155913000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:155905000-155914600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155905000-155914600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:155905000-155915200	Weak transcription	Fetal Brain Female	brain
5	chr1:155905000-155915800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:155905000-155915800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:155905000-155916000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:155905000-155916200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:155905200-155914600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:155905400-155915800	Weak transcription	Thymus	Thymus
12	chr1:155905400-155918400	Weak transcription	Psoas Muscle	Psoas
13	chr1:155908000-155915800	Enhancers	Primary B cells from cord blood	blood
14	chr1:155908000-155915800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:155908200-155913600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:155908200-155914800	Enhancers	Fetal Muscle Leg	muscle
17	chr1:155908600-155912600	Enhancers	Lung	lung
18	chr1:155908600-155913200	Enhancers	Left Ventricle	heart
19	chr1:155908800-155916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:155909400-155913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:155909400-155914600	Enhancers	GM12878-XiMat	blood
22	chr1:155909400-155916000	Enhancers	Adipose Nuclei	Adipose
23	chr1:155909600-155914200	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:155909600-155916200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:155909600-155916400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:155909800-155912600	Enhancers	Brain Hippocampus Middle	brain
27	chr1:155909800-155912800	Flanking Active TSS	HepG2	liver
28	chr1:155909800-155913000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:155909800-155913200	Enhancers	Placenta	Placenta
30	chr1:155909800-155913200	Enhancers	Fetal Thymus	thymus
31	chr1:155909800-155913200	Enhancers	Pancreas	Pancrea
32	chr1:155909800-155913200	Enhancers	Right Atrium	heart
33	chr1:155909800-155913200	Enhancers	Spleen	Spleen
34	chr1:155909800-155913400	Enhancers	Right Ventricle	heart
35	chr1:155909800-155913400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:155909800-155913600	Enhancers	HMEC	breast
37	chr1:155909800-155916000	Enhancers	Fetal Intestine Large	intestine
38	chr1:155909800-155916200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:155910000-155912600	Enhancers	Fetal Lung	lung
40	chr1:155910000-155912800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:155910000-155912800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:155910000-155913200	Enhancers	Brain Anterior Caudate	brain
43	chr1:155910000-155913200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:155910000-155913600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:155910000-155913600	Enhancers	Stomach Mucosa	stomach
46	chr1:155910000-155915400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:155910200-155912800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:155910200-155913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:155910400-155912600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:155910400-155912800	Enhancers	HSMM	muscle

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