Variant report

Variant	rs28494567
Chromosome Location	chr2:73480733-73480734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73458820..73465359-chr2:73476199..73482805,11	MCF-7	breast:
2	chr2:73479273..73487563-chr2:73490596..73499512,12	MCF-7	breast:
3	chr2:73476066..73477789-chr2:73479474..73481095,2	K562	blood:
4	chr2:73439692..73442945-chr2:73480540..73483945,4	K562	blood:

Variant related genes	Relation type
ENSG00000135617	Chromatin interaction
ENSG00000163013	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135624	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10048666	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10185970	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193579	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009208	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	0.89[ASN][1000 genomes]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[ASN][1000 genomes]
rs2043092	1.00[ASN][1000 genomes]
rs2288632	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321619	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73463000-73482400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:73463600-73483800	Strong transcription	Primary B cells from cord blood	blood
3	chr2:73464000-73480800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:73464000-73482000	Strong transcription	Primary hematopoietic stem cells	blood
5	chr2:73464000-73482200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:73464200-73483000	Strong transcription	Fetal Thymus	thymus
7	chr2:73464400-73484000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:73464600-73483400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:73464800-73481000	Strong transcription	Placenta	Placenta
10	chr2:73464800-73483400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:73464800-73483800	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:73464800-73495800	Weak transcription	Right Atrium	heart
13	chr2:73465000-73484600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:73465400-73482200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:73465400-73482600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:73465400-73482800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:73465600-73481000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:73465600-73481600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:73465600-73482200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:73465800-73481800	Strong transcription	HSMM	muscle
21	chr2:73465800-73482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:73465800-73482400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:73465800-73482600	Strong transcription	Fetal Intestine Large	intestine
24	chr2:73466000-73481400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:73466000-73482200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:73466000-73482400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:73466000-73482400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:73466200-73481600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr2:73466200-73481800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:73466200-73482000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:73466200-73482400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:73466200-73482600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:73466200-73482600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:73466200-73482600	Strong transcription	NHLF	lung
35	chr2:73466200-73483400	Strong transcription	Fetal Stomach	stomach
36	chr2:73466400-73481600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr2:73466400-73481800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:73466400-73482000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:73466400-73482600	Strong transcription	Liver	Liver
40	chr2:73466400-73482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:73466400-73483600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:73466600-73481800	Strong transcription	Fetal Lung	lung
43	chr2:73466600-73482400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:73466600-73482800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:73466600-73483000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:73466800-73482200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:73466800-73482600	Strong transcription	NHDF-Ad	bronchial
48	chr2:73467000-73482400	Strong transcription	A549	lung
49	chr2:73467000-73482600	Strong transcription	Adipose Nuclei	Adipose
50	chr2:73467000-73483400	Strong transcription	GM12878-XiMat	blood

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