Variant report

Variant	rs2808025
Chromosome Location	chr1:220331657-220331658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220326376..220329361-chr1:220330815..220332940,2	MCF-7	breast:
2	chr1:220322576..220325762-chr1:220328423..220332016,4	K562	blood:
3	chr1:220327833..220330003-chr1:220331080..220333776,2	MCF-7	breast:
4	chr1:220324262..220326114-chr1:220329198..220331900,2	K562	blood:
5	chr1:220331390..220335000-chr1:220342919..220345374,3	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1039207	0.81[AFR][1000 genomes]
rs11807323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1251331	0.81[AFR][1000 genomes]
rs1251332	0.81[AFR][1000 genomes]
rs2053251	0.81[AFR][1000 genomes]
rs2053252	0.81[AFR][1000 genomes]
rs2789790	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789791	0.95[AFR][1000 genomes]
rs2808024	0.88[AFR][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
2	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
3	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:220305400-220347000	Strong transcription	Dnd41	blood
5	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
12	chr1:220311200-220343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:220311600-220335000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:220318600-220335400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:220319000-220341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:220320400-220341800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:220320600-220336600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:220322800-220334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:220323000-220335000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:220323000-220341000	Strong transcription	HSMM	muscle
22	chr1:220323200-220334800	Strong transcription	NH-A	brain
23	chr1:220323200-220335000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:220323400-220331800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:220323400-220333800	Strong transcription	Fetal Stomach	stomach
26	chr1:220323800-220332400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:220323800-220333200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:220323800-220336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:220323800-220348000	Strong transcription	Primary B cells from cord blood	blood
30	chr1:220324000-220331800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:220324000-220334800	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:220324000-220335800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:220324000-220347000	Strong transcription	HMEC	breast
34	chr1:220324400-220332800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:220324600-220332400	Strong transcription	Fetal Brain Female	brain
36	chr1:220324600-220332600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:220324600-220335200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:220324800-220331800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr1:220325000-220398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:220325200-220335600	Strong transcription	Osteobl	bone
41	chr1:220325400-220334800	Strong transcription	Liver	Liver
42	chr1:220325400-220335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:220325400-220343800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:220325400-220347000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:220325400-220356000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:220325800-220332200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:220326000-220331800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:220326000-220333000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:220326400-220332800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:220327200-220333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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