Variant report

Variant	rs2740784
Chromosome Location	chr8:91999947-91999948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:91999932-92000686	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:91999942-92000353	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr8:91999885-92000305	H1-hESC	embryonic stem cell:	n/a	chr8:91999892-91999901
4	POLR2A	chr8:91999575-92005419	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91997724..92001247-chr8:92056707..92058927,3	K562	blood:
2	chr8:91999377..92002294-chr8:92003813..92006400,3	K562	blood:
3	chr8:91769820..91771750-chr8:91998621..92000554,2	MCF-7	breast:
4	chr8:91997600..92000218-chr8:92017780..92019513,2	K562	blood:
5	chr8:91999536..92001473-chr8:92080470..92083354,2	K562	blood:
6	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
7	chr8:91997697..92000488-chr8:92087544..92090273,2	K562	blood:
8	chr8:91997520..92000629-chr8:92050976..92054061,7	K562	blood:
9	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:
10	chr4:184423992..184426401-chr8:91998330..92000917,2	K562	blood:

No data

Variant related genes	Relation type
C8orf88	TF binding region
ENSG00000155100	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000232648	Chromatin interaction
ENSG00000168556	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1002583	0.92[EUR][1000 genomes]
rs10106570	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1038545	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1038546	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1055146	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808632	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808633	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10808634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1159962	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1160329	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11780153	0.80[ASN][1000 genomes]
rs1386113	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1471847	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1486464	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1486468	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1552397	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1825691	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1973282	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1973283	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2019889	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035595	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054806	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2101378	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631007	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631008	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2631011	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2631013	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2631015	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2631018	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631023	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631025	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631026	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631029	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631031	0.88[EUR][1000 genomes]
rs2631032	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677572	0.94[ASN][1000 genomes]
rs2677574	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2677581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740772	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740773	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740774	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2740775	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740776	0.84[AMR][1000 genomes]
rs2740778	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740779	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740780	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2740781	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2740785	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2740788	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2740791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2740796	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2740798	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2740801	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2740802	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28404401	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28618232	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28675099	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35972814	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4529427	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72664410	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818155	0.81[AMR][1000 genomes]
rs7818187	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828122	0.81[AMR][1000 genomes]
rs7831333	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832881	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837376	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs931336	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs931337	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997898	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs997899	0.86[EUR][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	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
5	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91997800-92026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91998000-92019800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91998200-92007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:91998200-92007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:91998200-92007800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:91998200-92007800	Weak transcription	Placenta	Placenta
7	chr8:91998200-92014000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91998200-92018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:91998200-92019800	Weak transcription	Left Ventricle	heart
10	chr8:91998200-92026400	Weak transcription	HMEC	breast
11	chr8:91998200-92026800	Weak transcription	Ovary	ovary
12	chr8:91998200-92027000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
14	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
15	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:91998400-92001000	Weak transcription	Fetal Heart	heart
17	chr8:91998400-92003600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:91998400-92006000	Weak transcription	HSMM	muscle
19	chr8:91998400-92006600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:91998400-92007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:91998400-92008200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:91998400-92008400	Weak transcription	Fetal Thymus	thymus
23	chr8:91998400-92008600	Weak transcription	Brain Anterior Caudate	brain
24	chr8:91998400-92011600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:91998400-92011600	Weak transcription	Right Ventricle	heart
26	chr8:91998400-92013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:91998400-92014800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:91998400-92020800	Weak transcription	HUVEC	blood vessel
29	chr8:91998400-92025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:91998400-92025800	Weak transcription	NHLF	lung
31	chr8:91998400-92026400	Weak transcription	NH-A	brain
32	chr8:91998400-92026600	Weak transcription	Psoas Muscle	Psoas
33	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
34	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:91998600-92001400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:91998600-92003000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:91998600-92005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:91998600-92005200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:91998600-92007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:91998600-92007000	Weak transcription	NHDF-Ad	bronchial
41	chr8:91998600-92007800	Weak transcription	Primary T cells from cord blood	blood
42	chr8:91998600-92007800	Weak transcription	Adipose Nuclei	Adipose
43	chr8:91998600-92007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:91998600-92008000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:91998600-92011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:91998600-92011600	Weak transcription	GM12878-XiMat	blood
47	chr8:91998600-92014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:91998600-92015800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:91998600-92016200	Weak transcription	K562	blood
50	chr8:91998600-92016400	Weak transcription	Fetal Muscle Leg	muscle

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