Variant report

Variant	rs11710280
Chromosome Location	chr3:138050798-138050799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138043371..138046599-chr3:138047282..138051436,3	K562	blood:
2	chr3:138049031..138051913-chr3:138117150..138118923,2	MCF-7	breast:
3	chr3:138050301..138052204-chr3:138116487..138117341,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181322	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1002766	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11713141	0.88[EUR][1000 genomes]
rs1199331	0.83[EUR][1000 genomes]
rs12107581	0.94[EUR][1000 genomes]
rs12490350	0.91[EUR][1000 genomes]
rs1564407	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1564408	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1679147	0.87[EUR][1000 genomes]
rs2054468	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2061936	0.87[EUR][1000 genomes]
rs2169973	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35219044	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3755751	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3773752	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3773758	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3773759	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3816730	0.96[EUR][1000 genomes]
rs4678260	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4678261	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4678407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4678408	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4678409	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4678410	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4678411	0.90[EUR][1000 genomes]
rs4678412	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4678415	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4678417	0.91[EUR][1000 genomes]
rs6439804	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6439805	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6439806	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6439807	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67559768	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6766859	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6769236	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6769261	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6782181	0.86[EUR][1000 genomes]
rs6782449	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6784989	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6789235	0.86[EUR][1000 genomes]
rs6790398	0.98[EUR][1000 genomes]
rs6802211	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs730158	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs731632	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs751357	0.97[EUR][1000 genomes]
rs7615658	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7626388	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7626424	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7637666	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7639809	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7639850	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7642400	0.87[EUR][1000 genomes]
rs9289559	0.94[EUR][1000 genomes]
rs940233	0.91[EUR][1000 genomes]
rs9825697	0.91[EUR][1000 genomes]
rs9834911	0.88[EUR][1000 genomes]
rs9845672	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846198	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846223	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9854465	0.95[EUR][1000 genomes]
rs9855722	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1821595	chr3:138043128-138055402	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr3:138048600-138051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:138048600-138057800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:138049000-138051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:138049000-138051600	Weak transcription	HMEC	breast
5	chr3:138049000-138053400	Weak transcription	Pancreas	Pancrea
6	chr3:138049000-138053600	Weak transcription	Ovary	ovary
7	chr3:138049000-138055000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:138049000-138056600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:138049200-138050800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:138049200-138051400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:138049200-138051400	Weak transcription	Fetal Heart	heart
12	chr3:138049200-138051400	Weak transcription	K562	blood
13	chr3:138049200-138051600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:138049200-138051600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:138049200-138053600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:138049200-138054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:138049200-138054400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:138049200-138054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:138049200-138055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:138049200-138055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:138049200-138055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:138049200-138055400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:138050200-138052000	Weak transcription	Gastric	stomach
24	chr3:138050400-138050800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:138050600-138056200	Weak transcription	HSMM	muscle

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