Variant report

Variant	rs73228757
Chromosome Location	chr3:142320081-142320082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142318139..142320851-chr3:142442948..142445184,2	K562	blood:
2	chr3:142317992..142321770-chr3:142321788..142324487,4	K562	blood:
3	chr3:142317493..142320182-chr3:142367082..142368859,2	MCF-7	breast:
4	chr3:142319541..142323718-chr3:142324179..142327610,6	MCF-7	breast:
5	chr3:142313049..142317204-chr3:142317936..142324155,9	MCF-7	breast:
6	chr3:142314594..142316783-chr3:142317618..142320716,5	K562	blood:

Variant related genes	Relation type
ENSG00000120756	Chromatin interaction
ENSG00000144935	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10935464	0.83[EUR][1000 genomes]
rs11711434	0.88[ASN][1000 genomes]
rs13316756	0.82[ASN][1000 genomes]
rs17623058	0.86[ASN][1000 genomes]
rs2140433	0.82[ASN][1000 genomes]
rs2140434	0.82[ASN][1000 genomes]
rs2177397	0.82[ASN][1000 genomes]
rs2229032	0.80[EUR][1000 genomes]
rs28365824	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28378300	0.80[ASN][1000 genomes]
rs28647471	0.84[ASN][1000 genomes]
rs28709617	0.84[ASN][1000 genomes]
rs3922731	0.82[EUR][1000 genomes]
rs4398471	0.84[ASN][1000 genomes]
rs4582093	0.82[ASN][1000 genomes]
rs55994893	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56161530	0.88[ASN][1000 genomes]
rs56383228	0.84[ASN][1000 genomes]
rs56397702	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58910647	0.82[ASN][1000 genomes]
rs60001529	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440095	0.85[ASN][1000 genomes]
rs6440096	0.84[ASN][1000 genomes]
rs6440097	0.84[ASN][1000 genomes]
rs66597875	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73228758	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228762	0.89[ASN][1000 genomes]
rs73228782	0.86[ASN][1000 genomes]
rs73238200	0.83[EUR][1000 genomes]
rs73238202	0.83[EUR][1000 genomes]
rs73240305	0.82[EUR][1000 genomes]
rs73240309	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73240310	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73240314	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73240316	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73240323	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73240328	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7633021	0.84[ASN][1000 genomes]
rs7638338	0.84[ASN][1000 genomes]
rs7647212	0.85[ASN][1000 genomes]
rs7647497	0.85[ASN][1000 genomes]
rs9813377	0.83[ASN][1000 genomes]
rs9816128	0.84[ASN][1000 genomes]
rs9816275	0.84[ASN][1000 genomes]
rs9826463	0.84[ASN][1000 genomes]
rs9847445	0.82[ASN][1000 genomes]
rs9857567	0.82[ASN][1000 genomes]
rs9858204	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9862686	0.82[ASN][1000 genomes]
rs9868309	0.84[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142315800-142320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:142315800-142324400	Weak transcription	Lung	lung
3	chr3:142316000-142321000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:142316000-142321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:142316200-142331000	Weak transcription	Small Intestine	intestine
6	chr3:142317000-142321000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:142317000-142327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:142317200-142321800	Weak transcription	Thymus	Thymus
9	chr3:142317200-142337600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:142317400-142321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:142317400-142321000	Weak transcription	Liver	Liver
12	chr3:142317400-142322200	Weak transcription	Dnd41	blood
13	chr3:142317400-142322800	Weak transcription	Hela-S3	cervix
14	chr3:142317400-142323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:142317400-142327400	Weak transcription	K562	blood
16	chr3:142317400-142337800	Weak transcription	HepG2	liver
17	chr3:142317600-142320600	Weak transcription	Stomach Mucosa	stomach
18	chr3:142317800-142320400	Weak transcription	Fetal Intestine Large	intestine
19	chr3:142319400-142321000	Weak transcription	Gastric	stomach
20	chr3:142319400-142330000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:142319600-142320400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:142319600-142320400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:142319600-142320400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:142319600-142320600	Weak transcription	Colonic Mucosa	Colon
25	chr3:142319600-142320600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:142319600-142324200	Weak transcription	Pancreas	Pancrea

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