Variant report

Variant	rs60127009
Chromosome Location	chr7:111916329-111916330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111911985..111913618-chr7:111915541..111918421,2	K562	blood:
2	chr7:111915123..111916714-chr7:111926590..111929489,2	K562	blood:
3	chr7:111915942..111918690-chr7:112090293..112091909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202406	Chromatin interaction
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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224789	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227494	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239663	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243005	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246422	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248314	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269057	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276727	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281805	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282279	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047550	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047551	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530699	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532522	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534930	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537934	1.00[ASN][1000 genomes]
rs17159353	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402962	1.00[ASN][1000 genomes]
rs17491423	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532417	0.83[AMR][1000 genomes];0.87[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	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67064485	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949234	1.00[ASN][1000 genomes]
rs6950282	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];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	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195204	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195220	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197363	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197366	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197367	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812188	0.98[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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
3	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:111903800-111917000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:111903800-111926000	Weak transcription	Psoas Muscle	Psoas
6	chr7:111905400-111926000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:111907200-111922400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:111907400-111928400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:111908200-111916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:111913400-111926000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:111913400-111938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:111913600-111916800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:111913600-111917800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:111913600-111929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:111915200-111916400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:111915200-111917800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:111915400-111916800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:111915400-111919600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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