Variant report

Variant	rs10246422
Chromosome Location	chr7:112030775-112030776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112030505..112033411-chr7:112090112..112091685,2	MCF-7	breast:
2	chr7:112029526..112032512-chr7:112089416..112091655,2	K562	blood:
3	chr7:112029372..112031621-chr7:112036798..112039526,2	MCF-7	breast:
4	chr7:112023462..112026199-chr7:112030712..112034136,5	MCF-7	breast:
5	chr7:111857821..111859574-chr7:112030551..112032739,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	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	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224789	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232109	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232110	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237213	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243005	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251698	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266976	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269057	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275406	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276140	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276727	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276853	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278420	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281805	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282279	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047550	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047551	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532522	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534930	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537934	1.00[ASN][1000 genomes]
rs17159353	1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402962	1.00[ASN][1000 genomes]
rs17491423	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532417	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894646	1.00[ASN][1000 genomes]
rs3109106	1.00[ASN][1000 genomes]
rs3109108	1.00[ASN][1000 genomes]
rs3109116	1.00[ASN][1000 genomes]
rs3109117	1.00[ASN][1000 genomes]
rs3128395	1.00[ASN][1000 genomes]
rs35134215	1.00[ASN][1000 genomes]
rs41281060	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56132236	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341778	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	1.00[ASN][1000 genomes]
rs61669542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67064485	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604537	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943448	1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949234	1.00[ASN][1000 genomes]
rs6950282	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	1.00[ASN][1000 genomes]
rs6969176	1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73193000	1.00[ASN][1000 genomes]
rs73195204	1.00[ASN][1000 genomes]
rs73195211	1.00[ASN][1000 genomes]
rs73195218	1.00[ASN][1000 genomes]
rs73195220	1.00[ASN][1000 genomes]
rs73195223	1.00[ASN][1000 genomes]
rs73195224	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	1.00[ASN][1000 genomes]
rs73197338	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197363	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197366	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197367	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197376	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786555	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	1.00[ASN][1000 genomes]
rs7806811	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	1.00[ASN][1000 genomes]
rs7810734	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812188	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	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	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112024200-112031400	Weak transcription	Pancreas	Pancrea
2	chr7:112025400-112031400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:112027000-112032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:112027200-112031000	Weak transcription	Fetal Kidney	kidney
5	chr7:112027400-112030800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:112027400-112030800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:112030600-112030800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:112030600-112030800	Enhancers	Dnd41	blood
9	chr7:112030600-112031000	Enhancers	Psoas Muscle	Psoas
10	chr7:112030600-112031000	Enhancers	Spleen	Spleen

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