Variant report

Variant	rs12673830
Chromosome Location	chr7:111877230-111877231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111860442..111862172-chr7:111876161..111878818,2	K562	blood:
2	chr7:111871803..111873889-chr7:111876323..111878022,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10226284	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10238141	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247876	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259741	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272126	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10272188	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10953708	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953709	0.93[EUR][1000 genomes]
rs10953710	0.93[EUR][1000 genomes]
rs11760599	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11761567	0.86[EUR][1000 genomes]
rs11761807	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11762497	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11763356	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11763588	0.80[EUR][1000 genomes]
rs11763768	0.86[ASN][1000 genomes]
rs11767115	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11768608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769219	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11770767	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11773393	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12666261	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666328	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12668065	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16873374	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17159341	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17159389	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17159446	0.88[EUR][1000 genomes]
rs1985929	0.80[ASN][1000 genomes]
rs2523037	0.80[ASN][1000 genomes]
rs2523038	0.80[ASN][1000 genomes]
rs2523039	0.80[ASN][1000 genomes]
rs2523041	0.80[ASN][1000 genomes]
rs2708603	0.80[ASN][1000 genomes]
rs2708604	0.80[ASN][1000 genomes]
rs2708605	0.80[ASN][1000 genomes]
rs3807884	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3823515	0.87[ASN][1000 genomes]
rs41281063	0.83[ASN][1000 genomes]
rs4730516	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730517	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730520	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55662318	0.82[ASN][1000 genomes]
rs55915049	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56299150	0.86[EUR][1000 genomes]
rs56675883	0.93[EUR][1000 genomes]
rs56969420	0.86[ASN][1000 genomes]
rs6949164	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6955231	0.86[ASN][1000 genomes]
rs6955623	0.86[EUR][1000 genomes]
rs7781245	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792130	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7795336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641480	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641481	0.90[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	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:111863800-111879000	Weak transcription	Fetal Intestine Small	intestine
5	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
6	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
7	chr7:111870400-111878200	Weak transcription	Psoas Muscle	Psoas
8	chr7:111872800-111878400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:111873200-111878400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:111873400-111878600	Weak transcription	Right Ventricle	heart
11	chr7:111873600-111878600	Weak transcription	Pancreas	Pancrea
12	chr7:111874000-111879200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:111874800-111878200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:111875800-111877400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:111875800-111878400	Enhancers	HepG2	liver
16	chr7:111876000-111877600	Enhancers	Liver	Liver
17	chr7:111876800-111880200	Enhancers	A549	lung
18	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
19	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:111877200-111879000	Weak transcription	NHLF	lung

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