Variant report

Variant	rs9645314
Chromosome Location	chr1:226295009-226295010
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226252236..226252777-chr1:226294948..226295894,2	MCF-7	breast:
2	chr1:226275598..226277765-chr1:226293845..226296301,2	MCF-7	breast:
3	chr1:226292376..226295257-chr1:226305072..226307730,3	MCF-7	breast:
4	chr1:226249831..226252326-chr1:226292698..226295663,4	K562	blood:
5	chr1:226292542..226298942-chr1:226306858..226311185,7	K562	blood:
6	chr1:226249198..226251804-chr1:226294108..226295631,2	K562	blood:
7	chr1:226271253..226273856-chr1:226293962..226295647,2	MCF-7	breast:
8	chr1:226294173..226296848-chr1:226297269..226298871,2	MCF-7	breast:
9	chr1:226290752..226294518-chr1:226294723..226300130,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000225518	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10915933	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10915938	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915939	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915940	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12121071	0.81[ASN][1000 genomes]
rs12123950	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12130296	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12131977	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12136759	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12145818	0.91[EUR][1000 genomes]
rs1355391	0.95[JPT][hapmap]
rs1877153	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1877155	1.00[CEU][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1877156	0.84[EUR][1000 genomes]
rs1877161	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35152719	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3887559	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4592232	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4653715	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67947191	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72757092	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
2	chr1:226288600-226296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226289000-226295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:226289000-226295200	Weak transcription	Stomach Mucosa	stomach
5	chr1:226289000-226295800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:226289000-226296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:226289000-226296400	Weak transcription	Right Atrium	heart
8	chr1:226289000-226296600	Weak transcription	Right Ventricle	heart
9	chr1:226289000-226296600	Weak transcription	NHLF	lung
10	chr1:226289000-226297000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:226289000-226297000	Weak transcription	HUVEC	blood vessel
12	chr1:226289200-226295200	Weak transcription	Esophagus	oesophagus
13	chr1:226289200-226297000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:226292600-226296800	Weak transcription	Lung	lung
15	chr1:226292800-226295200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:226292800-226295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:226292800-226295200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:226292800-226295200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:226292800-226295400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:226292800-226296200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:226292800-226296200	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:226292800-226296600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226292800-226296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:226292800-226296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:226292800-226296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:226292800-226296600	Weak transcription	HSMM	muscle
27	chr1:226293000-226295200	Weak transcription	Osteobl	bone
28	chr1:226293000-226296200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:226293000-226296400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:226293000-226296600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:226293000-226296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:226293000-226296600	Weak transcription	HMEC	breast
33	chr1:226293000-226296600	Weak transcription	HSMMtube	muscle
34	chr1:226293000-226296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:226293000-226297200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:226293000-226297400	Weak transcription	Spleen	Spleen
37	chr1:226293200-226296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:226293400-226296600	Weak transcription	Fetal Stomach	stomach
39	chr1:226293600-226296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:226293800-226295400	Weak transcription	GM12878-XiMat	blood
41	chr1:226294600-226296000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:226295000-226295400	Enhancers	NHEK	skin
43	chr1:226295000-226295800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:226295000-226295800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:226295000-226296000	Enhancers	Placenta	Placenta
46	chr1:226295000-226297000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:226295000-226297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:226295000-226297000	Enhancers	Primary B cells from cord blood	blood
49	chr1:226295000-226297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:226295000-226297200	Enhancers	K562	blood

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