Variant report

Variant	rs2740780
Chromosome Location	chr8:91973099-91973100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91968241..91970029-chr8:91971497..91973539,2	K562	blood:
2	chr8:91971665..91973537-chr8:91974194..91975735,2	K562	blood:
3	chr8:91972273..91973917-chr8:91996696..91998329,2	K562	blood:
4	chr8:91961850..91965214-chr8:91972320..91975888,3	K562	blood:

Variant related genes	Relation type
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10106570	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1038545	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1038546	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1055146	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808632	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs10808633	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1159962	0.82[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap]
rs1160329	0.81[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11780153	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1386113	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1471847	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1486468	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs1552397	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1825691	0.82[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1973282	0.83[ASN][1000 genomes]
rs1973283	0.95[ASN][1000 genomes]
rs2019889	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2035595	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054806	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2101378	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631007	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631008	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631011	0.82[ASN][1000 genomes]
rs2631015	0.92[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2631018	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631023	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631025	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631026	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631029	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631031	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2631032	0.89[ASN][1000 genomes]
rs2677572	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677574	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677581	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740772	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2740773	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2740774	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2740775	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740778	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740779	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740781	0.82[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2740784	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2740785	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740788	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740789	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2740791	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740796	0.95[ASN][1000 genomes]
rs2740798	0.88[ASN][1000 genomes]
rs2740801	0.80[ASN][1000 genomes]
rs2740802	0.83[ASN][1000 genomes]
rs28404401	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28618232	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28675099	0.84[ASN][1000 genomes]
rs35972814	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4529427	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7017683	0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs72664410	0.84[ASN][1000 genomes]
rs7818187	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7831333	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7832881	0.84[ASN][1000 genomes]
rs7837376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs931336	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931337	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs997898	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs997899	0.92[CHB][hapmap];0.94[JPT][hapmap]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1028201	chr8:91968527-92009964	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91951800-91986400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91953400-91981400	Weak transcription	HSMM	muscle
3	chr8:91953400-91984600	Weak transcription	NH-A	brain
4	chr8:91953600-91974800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:91953600-91976000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:91953600-91977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:91954000-91974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:91955000-91974800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:91955600-91975000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:91956600-91974400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:91957200-91976200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:91957400-91974400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:91958000-91976200	Weak transcription	K562	blood
14	chr8:91958200-91996000	Weak transcription	Fetal Stomach	stomach
15	chr8:91959200-91974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:91960600-91974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:91960600-91975200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:91960600-91976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:91961200-91975400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:91961200-91976000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:91961600-91975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:91963000-91975000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:91963600-91975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:91963600-91979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:91964600-91989800	Weak transcription	Left Ventricle	heart
26	chr8:91964800-91996600	Weak transcription	Ovary	ovary
27	chr8:91965600-91979200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:91966200-91974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:91966200-91976200	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:91970400-91976200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:91971800-91976400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:91971800-91996600	Weak transcription	Thymus	Thymus
33	chr8:91972600-91974000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:91972600-91975000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:91972600-91975200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:91972600-91976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:91972600-91976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:91972600-91976200	Weak transcription	Fetal Lung	lung
39	chr8:91973000-91977200	Weak transcription	NHDF-Ad	bronchial

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