Variant report

Variant	rs10253148
Chromosome Location	chr7:111996126-111996127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111995574..111997351-chr7:111999443..112001258,2	K562	blood:
2	chr7:111989108..111993301-chr7:111995018..111998714,4	K562	blood:
3	chr7:111981020..111983369-chr7:111995911..111998371,2	MCF-7	breast:
4	chr7:111994336..111997079-chr7:112010203..112013165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230999	Chromatin interaction
ENSG00000226851	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10046468	0.86[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	0.86[ASN][1000 genomes]
rs10232109	0.86[ASN][1000 genomes]
rs10232110	0.86[ASN][1000 genomes]
rs10237213	0.86[ASN][1000 genomes]
rs10239663	0.86[ASN][1000 genomes]
rs10243005	0.86[ASN][1000 genomes]
rs10246422	0.86[ASN][1000 genomes]
rs10248314	0.86[ASN][1000 genomes]
rs10251698	0.86[ASN][1000 genomes]
rs10261860	0.86[ASN][1000 genomes]
rs10266976	0.86[ASN][1000 genomes]
rs10269057	0.86[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	0.86[ASN][1000 genomes]
rs10276140	0.86[ASN][1000 genomes]
rs10276369	0.86[ASN][1000 genomes]
rs10276727	0.93[ASN][1000 genomes]
rs10276853	0.86[ASN][1000 genomes]
rs10278420	0.86[ASN][1000 genomes]
rs10281805	0.86[ASN][1000 genomes]
rs10282279	0.86[ASN][1000 genomes]
rs1047550	0.86[ASN][1000 genomes]
rs1047551	0.86[ASN][1000 genomes]
rs12530699	0.86[ASN][1000 genomes]
rs12532522	0.86[ASN][1000 genomes]
rs12534930	0.86[ASN][1000 genomes]
rs12537934	0.86[ASN][1000 genomes]
rs17159353	0.86[ASN][1000 genomes]
rs17159566	1.00[ASN][1000 genomes]
rs17159604	0.86[ASN][1000 genomes]
rs17402962	0.86[ASN][1000 genomes]
rs17491423	0.86[ASN][1000 genomes]
rs2189289	0.86[ASN][1000 genomes]
rs2285732	0.86[ASN][1000 genomes]
rs28532417	0.86[ASN][1000 genomes]
rs2894646	0.86[ASN][1000 genomes]
rs3109106	0.86[ASN][1000 genomes]
rs3109108	0.86[ASN][1000 genomes]
rs3109116	0.86[ASN][1000 genomes]
rs3109117	0.86[ASN][1000 genomes]
rs3128395	0.86[ASN][1000 genomes]
rs35134215	0.86[ASN][1000 genomes]
rs41281060	0.80[ASN][1000 genomes]
rs56132236	0.86[ASN][1000 genomes]
rs56341778	0.86[ASN][1000 genomes]
rs57214357	0.86[ASN][1000 genomes]
rs60127009	0.86[ASN][1000 genomes]
rs60691495	0.86[ASN][1000 genomes]
rs61669542	0.86[ASN][1000 genomes]
rs67064485	0.86[ASN][1000 genomes]
rs67604537	0.86[ASN][1000 genomes]
rs6943448	0.86[ASN][1000 genomes]
rs6944498	0.86[ASN][1000 genomes]
rs6947063	0.86[ASN][1000 genomes]
rs6949234	0.86[ASN][1000 genomes]
rs6950282	0.86[ASN][1000 genomes]
rs6964483	0.86[ASN][1000 genomes]
rs6965896	0.86[ASN][1000 genomes]
rs6969176	0.86[ASN][1000 genomes]
rs6971023	0.86[ASN][1000 genomes]
rs73192992	0.86[ASN][1000 genomes]
rs73192993	0.86[ASN][1000 genomes]
rs73193000	0.86[ASN][1000 genomes]
rs73195204	0.86[ASN][1000 genomes]
rs73195211	0.86[ASN][1000 genomes]
rs73195218	0.86[ASN][1000 genomes]
rs73195220	0.86[ASN][1000 genomes]
rs73195223	0.86[ASN][1000 genomes]
rs73195224	0.86[ASN][1000 genomes]
rs73195225	0.86[ASN][1000 genomes]
rs73197338	0.86[ASN][1000 genomes]
rs73197343	0.86[ASN][1000 genomes]
rs73197349	0.86[ASN][1000 genomes]
rs73197363	0.86[ASN][1000 genomes]
rs73197366	0.86[ASN][1000 genomes]
rs73197367	0.86[ASN][1000 genomes]
rs73197376	0.86[ASN][1000 genomes]
rs7786555	0.86[ASN][1000 genomes]
rs7790065	0.86[ASN][1000 genomes]
rs7806811	0.86[ASN][1000 genomes]
rs7810149	0.86[ASN][1000 genomes]
rs7810734	0.86[ASN][1000 genomes]
rs7812188	0.86[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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111982800-111997000	Weak transcription	HepG2	liver
3	chr7:111983800-112004600	Weak transcription	Pancreas	Pancrea
4	chr7:111986400-111997000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:111987800-112000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:111993400-111999400	Weak transcription	Right Atrium	heart
7	chr7:111995800-112000800	Weak transcription	Aorta	Aorta

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