Variant report

Variant	rs7017478
Chromosome Location	chr8:126244428-126244429
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	chr1:182572134..182574067-chr8:126243110..126244730,2	MCF-7	breast:
2	chr8:126242140..126245114-chr8:126252061..126254189,2	MCF-7	breast:
3	chr8:126243152..126245198-chr8:126282741..126285333,2	MCF-7	breast:
4	chr8:126240954..126245383-chr8:126440692..126445687,11	MCF-7	breast:
5	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
6	chr8:126243523..126245735-chr8:126346026..126348956,2	MCF-7	breast:
7	chr8:126242492..126244562-chr8:126657053..126658910,2	MCF-7	breast:
8	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
9	chr8:126242892..126244647-chr8:126443268..126445265,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143333	Chromatin interaction
ENSG00000242170	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10106942	0.85[ASN][1000 genomes]
rs11995484	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542820	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384914	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300023	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4330708	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871572	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871574	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7831515	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7836506	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7836761	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297712	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
3	chr8:126233800-126249600	Weak transcription	Gastric	stomach
4	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
5	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:126238800-126244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:126238800-126244800	Weak transcription	Adipose Nuclei	Adipose
8	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:126239000-126244800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:126239000-126244800	Weak transcription	Osteobl	bone
11	chr8:126239200-126245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126239400-126244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:126239600-126245200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:126239800-126246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:126240400-126267000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:126240800-126245400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:126241000-126246000	Weak transcription	Ovary	ovary
19	chr8:126241000-126247000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:126241000-126250200	Weak transcription	Psoas Muscle	Psoas
21	chr8:126241200-126251200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:126241400-126258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:126241600-126244800	Weak transcription	NHLF	lung
24	chr8:126241600-126245600	Enhancers	A549	lung
25	chr8:126241600-126246800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:126242400-126246000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:126242400-126246000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:126242400-126246200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:126242600-126245200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:126242600-126245600	Enhancers	HMEC	breast
31	chr8:126242800-126246000	Enhancers	Hela-S3	cervix
32	chr8:126243000-126260000	Weak transcription	GM12878-XiMat	blood
33	chr8:126243200-126267000	Weak transcription	Brain Angular Gyrus	brain
34	chr8:126243400-126245600	Enhancers	HepG2	liver
35	chr8:126243600-126244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:126243600-126244800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:126243600-126244800	Weak transcription	NHDF-Ad	bronchial
38	chr8:126243600-126245000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr8:126243600-126245200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:126243600-126245400	Enhancers	Placenta	Placenta
41	chr8:126243600-126253400	Weak transcription	Primary B cells from cord blood	blood
42	chr8:126243800-126244800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:126243800-126244800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:126243800-126244800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:126243800-126245200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:126243800-126245200	Weak transcription	NHEK	skin
47	chr8:126243800-126246600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:126243800-126246800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:126243800-126246800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:126243800-126246800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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