Variant report

Variant	rs11718899
Chromosome Location	chr3:142318629-142318630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142318139..142320851-chr3:142442948..142445184,2	K562	blood:
2	chr3:142294568..142300006-chr3:142310942..142319455,13	MCF-7	breast:
3	chr3:142316986..142319598-chr3:142354070..142355822,2	MCF-7	breast:
4	chr3:142317992..142321770-chr3:142321788..142324487,4	K562	blood:
5	chr3:142317493..142320182-chr3:142367082..142368859,2	MCF-7	breast:
6	chr3:142294183..142301262-chr3:142311308..142318922,13	MCF-7	breast:
7	chr3:142314207..142316490-chr3:142317390..142319510,2	K562	blood:
8	chr3:142313049..142317204-chr3:142317936..142324155,9	MCF-7	breast:
9	chr3:142314594..142316783-chr3:142317618..142320716,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144935	Chromatin interaction
ENSG00000242390	Chromatin interaction
ENSG00000175054	Chromatin interaction
ENSG00000120756	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1129391	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11708470	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11916455	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11923612	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12629713	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12634255	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12638158	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12639363	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13063075	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13065800	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13066441	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13068397	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13070239	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13071750	0.84[EUR][1000 genomes]
rs13072346	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13072355	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13078890	0.84[EUR][1000 genomes]
rs13085247	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13085261	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13089219	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13092234	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13093304	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227929	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227931	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34392719	0.85[EUR][1000 genomes]
rs3923464	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4256152	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57299906	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440085	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6776402	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7432464	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7636909	0.82[ASN][1000 genomes]
rs7641914	0.86[EUR][1000 genomes];0.85[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	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142315600-142319200	Weak transcription	Gastric	stomach
2	chr3:142315800-142320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:142315800-142324400	Weak transcription	Lung	lung
4	chr3:142316000-142319800	Weak transcription	NH-A	brain
5	chr3:142316000-142321000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:142316000-142321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:142316200-142318800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:142316200-142331000	Weak transcription	Small Intestine	intestine
9	chr3:142317000-142321000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:142317000-142327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:142317200-142321800	Weak transcription	Thymus	Thymus
12	chr3:142317200-142337600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:142317400-142321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:142317400-142321000	Weak transcription	Liver	Liver
15	chr3:142317400-142322200	Weak transcription	Dnd41	blood
16	chr3:142317400-142322800	Weak transcription	Hela-S3	cervix
17	chr3:142317400-142323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:142317400-142327400	Weak transcription	K562	blood
19	chr3:142317400-142337800	Weak transcription	HepG2	liver
20	chr3:142317600-142320600	Weak transcription	Stomach Mucosa	stomach
21	chr3:142317800-142319000	Weak transcription	Pancreas	Pancrea
22	chr3:142317800-142320400	Weak transcription	Fetal Intestine Large	intestine
23	chr3:142318600-142319000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr3:142318600-142319000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr3:142318600-142319600	Enhancers	Colonic Mucosa	Colon
26	chr3:142318600-142319600	Enhancers	Duodenum Mucosa	Duodenum
27	chr3:142318600-142319600	Genic enhancers	Fetal Intestine Small	intestine

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