Variant report

Variant	rs2284205
Chromosome Location	chr7:139620388-139620389
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139619411..139622520-chr7:139671470..139673842,3	K562	blood:
2	chr7:139601541..139604051-chr7:139619127..139620710,2	K562	blood:
3	chr7:139619931..139621837-chr7:139655135..139658057,2	K562	blood:
4	chr7:139443511..139447494-chr7:139617776..139621244,3	K562	blood:
5	chr7:139574219..139575833-chr7:139617525..139620392,2	K562	blood:
6	chr7:139612773..139615272-chr7:139618584..139621625,3	K562	blood:
7	chr7:139616579..139619472-chr7:139620171..139622168,3	K562	blood:
8	chr7:139618302..139620555-chr7:139646388..139648923,2	K562	blood:
9	chr7:139614506..139616528-chr7:139619722..139621611,2	MCF-7	breast:
10	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2267697	0.85[JPT][hapmap]
rs2284204	1.00[ASN][1000 genomes]
rs2299893	0.85[JPT][hapmap]
rs6464450	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6952982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6965165	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2284205	MRPS33	cis	parietal	SCAN
rs2284205	OR6V1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:139613800-139629800	Weak transcription	Spleen	Spleen
3	chr7:139615400-139645000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:139616800-139621400	Weak transcription	Colonic Mucosa	Colon
5	chr7:139617000-139620600	Enhancers	Fetal Heart	heart
6	chr7:139617000-139622800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:139617200-139622800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:139617600-139621800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:139617600-139621800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:139618000-139620800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:139618600-139621800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:139618600-139644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:139619200-139621200	Genic enhancers	K562	blood
14	chr7:139619600-139620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:139619600-139620800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:139620000-139620400	Enhancers	Fetal Thymus	thymus
17	chr7:139620000-139629800	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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