Variant report

Variant	rs2275220
Chromosome Location	chr10:94372706-94372707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94354555..94356987-chr10:94371301..94373005,2	MCF-7	breast:
2	chr10:94367337..94368987-chr10:94371492..94374274,2	K562	blood:
3	chr10:94353654..94355559-chr10:94371122..94372777,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11187066	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253177	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266443	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875329	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875332	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275218	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737225	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57299222	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151654	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151656	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151657	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151659	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151667	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151672	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94353600-94403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:94354800-94373400	Weak transcription	Fetal Intestine Small	intestine
5	chr10:94356800-94385600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:94362000-94381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:94362000-94389400	Weak transcription	NHLF	lung
8	chr10:94362000-94399800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:94362600-94376400	Weak transcription	Fetal Lung	lung
10	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
11	chr10:94364000-94390600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:94364000-94416400	Strong transcription	Dnd41	blood
13	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:94364400-94403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
16	chr10:94364800-94383600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:94365000-94385400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:94365000-94395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:94365600-94379400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:94365600-94390600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
22	chr10:94365800-94382600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:94365800-94390400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:94366000-94386400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:94366000-94390600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:94366000-94409600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:94366200-94390600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:94366400-94388600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:94366800-94390600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:94367200-94411400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:94367400-94394000	Weak transcription	Fetal Intestine Large	intestine
32	chr10:94367400-94399600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:94367600-94373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:94368200-94375200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:94368600-94386200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:94369200-94377400	Strong transcription	GM12878-XiMat	blood
37	chr10:94369400-94373600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:94369400-94376400	Weak transcription	NHDF-Ad	bronchial
39	chr10:94371000-94408600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:94371000-94414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
42	chr10:94371200-94374800	Weak transcription	Small Intestine	intestine
43	chr10:94371200-94386000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:94371400-94374000	Strong transcription	Fetal Stomach	stomach
45	chr10:94371400-94374800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:94371400-94376400	Strong transcription	Fetal Muscle Leg	muscle
47	chr10:94371600-94374400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr10:94371600-94374600	Strong transcription	Hela-S3	cervix
49	chr10:94371600-94375400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr10:94371600-94390600	Strong transcription	Monocytes-CD14+_RO01746	blood

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