Variant report

Variant	rs491465
Chromosome Location	chr11:64830949-64830950
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64830948-64831060	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64808333..64809839-chr11:64829270..64831192,2	K562	blood:
2	chr11:64825982..64827977-chr11:64830481..64832130,2	K562	blood:
3	chr11:64820729..64822239-chr11:64829384..64831296,2	K562	blood:
4	chr11:64830352..64833350-chr17:78270832..78273035,2	K562	blood:
5	chr11:64829724..64831919-chr5:175016167..175018564,2	MCF-7	breast:
6	chr11:64781815..64785733-chr11:64830700..64833952,3	MCF-7	breast:
7	chr11:64808273..64810184-chr11:64828627..64831300,2	MCF-7	breast:
8	chr11:64807339..64812721-chr11:64826585..64832527,8	K562	blood:
9	chr11:64815384..64817881-chr11:64829540..64831191,2	MCF-7	breast:
10	chr11:64822490..64825444-chr11:64828190..64831057,4	K562	blood:
11	chr11:64830399..64834355-chr11:64844286..64848376,4	K562	blood:
12	chr11:64830568..64832981-chr11:64850047..64853029,4	K562	blood:
13	chr11:64828596..64831631-chr11:64831856..64834174,3	K562	blood:

No data

Variant related genes	Relation type
NAALADL1	TF binding region
ENSG00000168061	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000266123	Chromatin interaction
ENSG00000162300	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088	0.87[ASN][1000 genomes]
rs1149569	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1149570	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195975	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195976	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195977	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195978	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196047	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196049	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196051	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209621	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211975	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1300836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546532	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370165	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3819049	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3850948	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3896078	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930699	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs508375	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531178	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939766	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64813800-64833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
3	chr11:64825400-64831000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:64828200-64833200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:64828400-64833400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:64828600-64831400	Weak transcription	Fetal Intestine Large	intestine
7	chr11:64828600-64833800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:64828600-64834400	Weak transcription	Fetal Thymus	thymus
9	chr11:64828800-64832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:64828800-64833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64829000-64833200	Weak transcription	K562	blood
12	chr11:64830000-64834000	Weak transcription	GM12878-XiMat	blood
13	chr11:64830000-64836800	Weak transcription	Spleen	Spleen
14	chr11:64830200-64833800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:64830200-64835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:64830600-64831000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:64830600-64833200	Enhancers	HepG2	liver
18	chr11:64830800-64832200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:64830800-64835600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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