Variant report

Variant	rs9813377
Chromosome Location	chr3:142321717-142321718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142317992..142321770-chr3:142321788..142324487,4	K562	blood:
2	chr3:142319541..142323718-chr3:142324179..142327610,6	MCF-7	breast:
3	chr3:142313049..142317204-chr3:142317936..142324155,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120756	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13316756	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2140433	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2140434	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177397	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28365824	0.80[ASN][1000 genomes]
rs28378300	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28647471	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28709617	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4398471	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4582093	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56383228	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58910647	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6440095	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440096	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6440097	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6773213	0.97[EUR][1000 genomes]
rs6797237	0.97[EUR][1000 genomes]
rs6797745	0.97[EUR][1000 genomes]
rs6800573	0.96[EUR][1000 genomes]
rs73228757	0.83[ASN][1000 genomes]
rs73228758	0.83[ASN][1000 genomes]
rs73240328	0.87[ASN][1000 genomes]
rs7622648	0.96[EUR][1000 genomes]
rs7633021	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7638338	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7647212	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7647497	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9683274	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9816128	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9816275	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9826463	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9847445	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9857567	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9858204	0.87[ASN][1000 genomes]
rs9862686	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9868309	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142315800-142324400	Weak transcription	Lung	lung
2	chr3:142316200-142331000	Weak transcription	Small Intestine	intestine
3	chr3:142317000-142327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:142317200-142321800	Weak transcription	Thymus	Thymus
5	chr3:142317200-142337600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:142317400-142322200	Weak transcription	Dnd41	blood
7	chr3:142317400-142322800	Weak transcription	Hela-S3	cervix
8	chr3:142317400-142323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:142317400-142327400	Weak transcription	K562	blood
10	chr3:142317400-142337800	Weak transcription	HepG2	liver
11	chr3:142319400-142330000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:142319600-142324200	Weak transcription	Pancreas	Pancrea
13	chr3:142320400-142324600	Enhancers	Fetal Intestine Large	intestine
14	chr3:142320600-142321800	Enhancers	Colonic Mucosa	Colon
15	chr3:142321000-142321800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:142321000-142322000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr3:142321200-142325200	Enhancers	Fetal Intestine Small	intestine
18	chr3:142321400-142322000	Weak transcription	Stomach Mucosa	stomach
19	chr3:142321400-142322600	Active TSS	Duodenum Mucosa	Duodenum
20	chr3:142321400-142322800	Active TSS	Rectal Mucosa Donor 29	rectum

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