Variant report

Variant	rs7486723
Chromosome Location	chr12:123763573-123763574
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	chr12:123761391..123764164-chr12:123766188..123768345,2	K562	blood:

Variant related genes	Relation type
ENSG00000199845	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10744152	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10744153	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10744154	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10773012	0.81[AMR][1000 genomes]
rs10773018	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10846517	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10846519	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10846523	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11057283	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11057287	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11554169	0.85[EUR][1000 genomes]
rs11612234	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11613711	0.90[AMR][1000 genomes]
rs2280424	0.85[EUR][1000 genomes]
rs28414347	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28417583	0.80[ASN][1000 genomes]
rs28418709	0.82[ASN][1000 genomes]
rs28501453	0.80[ASN][1000 genomes]
rs28517382	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28537583	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28546238	0.80[ASN][1000 genomes]
rs28587386	0.80[ASN][1000 genomes]
rs28594416	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28595660	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28602967	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28611282	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28613486	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28627651	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28631903	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28681105	0.80[ASN][1000 genomes]
rs28703745	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28718696	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28759130	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28865692	0.90[AMR][1000 genomes]
rs28885203	0.90[AMR][1000 genomes]
rs3759114	0.85[EUR][1000 genomes]
rs3803001	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3825141	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4759372	0.85[EUR][1000 genomes]
rs4759374	0.84[ASN][1000 genomes]
rs4759376	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4759411	0.85[EUR][1000 genomes]
rs4759413	0.85[EUR][1000 genomes]
rs4759414	0.85[EUR][1000 genomes]
rs4759418	0.85[EUR][1000 genomes]
rs4759421	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57356592	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57416942	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58537268	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58948739	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59295450	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60754073	0.81[AMR][1000 genomes]
rs60755632	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61058270	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61231969	0.85[EUR][1000 genomes]
rs61751327	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6488869	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6488870	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6488871	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6488872	0.82[ASN][1000 genomes]
rs7137243	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7297649	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7301163	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7310756	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7311304	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7484644	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7485967	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7486223	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7488340	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7488490	0.84[ASN][1000 genomes]
rs7952835	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7955367	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7959415	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7970080	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7971557	0.85[AMR][1000 genomes]
rs7973131	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7973878	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7977563	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9284166	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9300256	0.82[ASN][1000 genomes]
rs9300257	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9300259	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9669169	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9739008	0.85[AMR][1000 genomes]
rs9739565	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9795593	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS 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	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:123757200-123774000	Weak transcription	K562	blood
3	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
4	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
6	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:123757800-123771400	Weak transcription	A549	lung
8	chr12:123758000-123771600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:123758800-123773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:123761800-123763800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:123762400-123763600	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:123762600-123763600	Enhancers	GM12878-XiMat	blood
14	chr12:123762800-123773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:123763000-123763600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:123763000-123773800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:123763200-123763600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:123763200-123772800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:123763200-123774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:123763200-123775800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:123763400-123773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:123763400-123773400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:123763400-123774000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:123763400-123774600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:123763400-123774600	Weak transcription	HUVEC	blood vessel

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