Variant report

Variant	rs7539210
Chromosome Location	chr1:93915033-93915034
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: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	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
2	chr1:93811133..93814005-chr1:93913050..93915053,2	MCF-7	breast:
3	chr1:93544684..93546350-chr1:93912663..93915157,2	MCF-7	breast:
4	chr1:93543927..93545832-chr1:93912304..93915209,2	K562	blood:
5	chr1:93913254..93915566-chr1:94049347..94051024,2	MCF-7	breast:
6	chr1:93914879..93917685-chr1:93917983..93919742,2	MCF-7	breast:
7	chr1:93913059..93915471-chr1:94146480..94149352,2	MCF-7	breast:
8	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:
9	chr1:93912275..93915051-chr1:94031554..94034394,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223745	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000143033	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1079750	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11164926	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164930	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164932	0.82[EUR][1000 genomes]
rs11164940	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs11811006	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060221	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062584	0.89[EUR][1000 genomes]
rs12069440	0.85[EUR][1000 genomes]
rs12086857	0.86[EUR][1000 genomes]
rs12096122	0.85[EUR][1000 genomes]
rs12096561	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409932	0.85[EUR][1000 genomes]
rs12410122	0.85[CEU][hapmap]
rs12410123	0.88[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1582773	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109997	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17131741	1.00[CEU][hapmap]
rs17387059	0.85[EUR][1000 genomes]
rs1895903	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2011212	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081568	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2624437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3088371	0.85[CEU][hapmap]
rs57710451	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59792151	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61580948	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67012296	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72721009	0.87[EUR][1000 genomes]
rs72721010	0.87[EUR][1000 genomes]
rs72721014	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72721019	0.87[EUR][1000 genomes]
rs72961351	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7339890	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7541984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543847	0.83[YRI][hapmap]
rs7553695	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900310	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93912400-93915400	Active TSS	Fetal Lung	lung
2	chr1:93912400-93915400	Active TSS	Rectal Smooth Muscle	rectum
3	chr1:93912400-93915600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:93912400-93915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:93912400-93916200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:93912600-93915200	Active TSS	Esophagus	oesophagus
7	chr1:93912600-93915200	Active TSS	Left Ventricle	heart
8	chr1:93912600-93915200	Active TSS	Lung	lung
9	chr1:93912600-93915200	Active TSS	Pancreas	Pancrea
10	chr1:93912600-93915400	Active TSS	Fetal Brain Male	brain
11	chr1:93912600-93915400	Active TSS	Right Ventricle	heart
12	chr1:93912600-93916600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:93912800-93915200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:93912800-93915200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:93912800-93915200	Active TSS	Gastric	stomach
16	chr1:93912800-93915200	Active TSS	Ovary	ovary
17	chr1:93912800-93915200	Active TSS	Stomach Mucosa	stomach
18	chr1:93912800-93915200	Active TSS	A549	lung
19	chr1:93912800-93915400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:93912800-93915400	Active TSS	Brain Anterior Caudate	brain
21	chr1:93912800-93915400	Active TSS	Duodenum Mucosa	Duodenum
22	chr1:93912800-93915400	Active TSS	Fetal Kidney	kidney
23	chr1:93912800-93915400	Active TSS	Psoas Muscle	Psoas
24	chr1:93912800-93915400	Active TSS	HSMM	muscle
25	chr1:93912800-93916000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:93913000-93915200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:93913000-93915200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:93913000-93915200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr1:93913000-93915200	Active TSS	Fetal Intestine Small	intestine
30	chr1:93913000-93915400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:93913000-93915400	Active TSS	Aorta	Aorta
32	chr1:93913000-93915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:93913000-93915800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:93913000-93916200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:93913000-93916400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:93913000-93916400	Active TSS	Fetal Intestine Large	intestine
37	chr1:93913000-93916600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:93913000-93916600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr1:93913200-93915200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:93913200-93915200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:93913200-93915200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:93913200-93915400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:93913200-93915400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:93913200-93915400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:93913200-93916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:93913200-93916000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:93913200-93916200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:93913200-93916400	Active TSS	HMEC	breast
49	chr1:93913400-93915200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:93913400-93915200	Active TSS	Small Intestine	intestine

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