Variant report

Variant	rs360091
Chromosome Location	chr1:226063371-226063372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226016918..226019631-chr1:226062636..226064658,2	K562	blood:
2	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
3	chr1:226060392..226063729-chr1:226110650..226113605,4	MCF-7	breast:
4	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
5	chr1:226058705..226061570-chr1:226062112..226065041,3	K562	blood:
6	chr1:226033230..226036408-chr1:226061975..226066194,3	MCF-7	breast:
7	chr1:226060345..226063874-chr1:226111222..226114417,3	MCF-7	breast:
8	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
9	chr1:226044051..226045596-chr1:226062360..226064718,2	MCF-7	breast:
10	chr1:225997823..225999430-chr1:226061686..226063547,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000242861	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000243709	Chromatin interaction
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs111990	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12041277	0.90[ASN][1000 genomes]
rs1237433	0.82[AMR][1000 genomes]
rs168618	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168619	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2854452	0.85[ASN][1000 genomes]
rs360061	0.88[ASN][1000 genomes]
rs360063	0.81[ASN][1000 genomes]
rs360075	0.82[AMR][1000 genomes]
rs360077	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs360083	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360088	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360092	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360093	0.87[AFR][1000 genomes]
rs360094	0.87[AFR][1000 genomes]
rs360095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs360097	0.87[AFR][1000 genomes]
rs360100	0.87[AFR][1000 genomes]
rs360101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360103	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
3	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
4	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
5	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr1:226052600-226064200	Strong transcription	Right Ventricle	heart
12	chr1:226053200-226063600	Strong transcription	Ovary	ovary
13	chr1:226054000-226065000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr1:226054200-226063800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:226054200-226064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:226054400-226065000	Strong transcription	Lung	lung
17	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach
18	chr1:226054400-226065800	Weak transcription	HUVEC	blood vessel
19	chr1:226054600-226063400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:226054600-226065200	Strong transcription	Spleen	Spleen
21	chr1:226054600-226065800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:226054800-226063400	Strong transcription	GM12878-XiMat	blood
23	chr1:226054800-226065800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:226055000-226064200	Strong transcription	Primary B cells from cord blood	blood
25	chr1:226055000-226065000	Weak transcription	Psoas Muscle	Psoas
26	chr1:226055000-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:226055000-226065600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:226055000-226066600	Weak transcription	Dnd41	blood
29	chr1:226055200-226065000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:226055200-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:226056200-226065200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:226057200-226064600	Strong transcription	Adipose Nuclei	Adipose
33	chr1:226057200-226065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:226058400-226064600	Weak transcription	Hela-S3	cervix
35	chr1:226058400-226067200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:226058600-226065600	Strong transcription	K562	blood
37	chr1:226059000-226063400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:226059600-226068800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:226059800-226063400	Strong transcription	HepG2	liver
40	chr1:226059800-226065000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:226059800-226066600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:226059800-226066800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:226060000-226065000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:226060000-226065200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:226060200-226064600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:226060200-226068600	Weak transcription	NH-A	brain
47	chr1:226060400-226064800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:226060400-226065000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:226060600-226063400	Strong transcription	Colon Smooth Muscle	Colon
50	chr1:226060600-226063600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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