Variant report

Variant	rs9987227
Chromosome Location	chr8:125859739-125859740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr8:125859629-125860651	K562	blood:	n/a	n/a
2	CTCF	chr8:125859640-125859790	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr8:125859729-125860582	K562	blood:	n/a	n/a
4	MAX	chr8:125859713-125860171	K562	blood:	n/a	n/a
5	EP300	chr8:125859666-125860855	K562	blood:	n/a	chr8:125860342-125860356
6	NR2F2	chr8:125859528-125861003	K562	blood:	n/a	n/a
7	JUN	chr8:125859730-125861242	K562	blood:	n/a	chr8:125860947-125860959
8	FOS	chr8:125859674-125860784	HUVEC	blood vessel:	n/a	n/a
9	TEAD4	chr8:125859677-125860752	K562	blood:	n/a	n/a
10	CBX3	chr8:125859613-125860641	K562	blood:	n/a	n/a
11	BACH1	chr8:125859696-125859882	K562	blood:	n/a	n/a
12	POLR2A	chr8:125859704-125861162	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125826280..125829250-chr8:125858154..125859848,3	K562	blood:
2	chr8:125858857..125860537-chr8:125866722..125869065,2	K562	blood:
3	chr16:68268392..68270651-chr8:125859667..125862463,2	MCF-7	breast:
4	chr8:125826310..125829048-chr8:125858256..125860186,2	K562	blood:
5	chr8:125740480..125742026-chr8:125858931..125861971,3	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00964	TF binding region
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000103067	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10956221	0.86[ASN][1000 genomes]
rs11987831	0.86[ASN][1000 genomes]
rs12681718	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[ASN][1000 genomes]
rs13252227	0.86[ASN][1000 genomes]
rs13269995	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1365690	0.86[MEX][hapmap]
rs28812857	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4870929	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4870930	0.90[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4871557	0.90[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4871559	0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4871561	0.90[ASW][hapmap];0.90[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs4871566	1.00[GIH][hapmap];0.93[MEX][hapmap]
rs6470291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6470293	0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6470295	0.88[ASN][1000 genomes]
rs6470297	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6470299	0.86[ASN][1000 genomes]
rs6470301	0.86[ASN][1000 genomes]
rs6470304	0.86[ASN][1000 genomes]
rs6470311	0.87[MEX][hapmap]
rs6470317	1.00[GIH][hapmap];0.93[MEX][hapmap]
rs6990879	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7004579	0.86[MEX][hapmap]
rs7016723	0.86[ASN][1000 genomes]
rs7387254	1.00[GIH][hapmap];0.93[MEX][hapmap]
rs7459652	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7461228	0.86[ASN][1000 genomes]
rs7463183	0.86[ASN][1000 genomes]
rs7463657	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7464187	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7464601	0.86[ASN][1000 genomes]
rs7820918	0.86[ASN][1000 genomes]
rs7845589	0.88[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	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:125855400-125860000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:125855400-125860400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125855600-125860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:125855600-125860800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:125855600-125860800	Weak transcription	Brain Angular Gyrus	brain
7	chr8:125855600-125861000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125855600-125861000	Weak transcription	Stomach Mucosa	stomach
9	chr8:125855800-125859800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:125855800-125860000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:125855800-125860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:125855800-125860200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:125855800-125860400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:125855800-125860400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:125855800-125860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125855800-125860400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:125855800-125861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:125855800-125861200	Weak transcription	Psoas Muscle	Psoas
19	chr8:125858000-125859800	Enhancers	NHEK	skin
20	chr8:125858000-125860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:125858000-125860600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125858000-125861400	Enhancers	NHDF-Ad	bronchial
23	chr8:125858000-125861600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:125858000-125861600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125858000-125862200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:125858000-125862200	Enhancers	HMEC	breast
27	chr8:125858200-125860800	Enhancers	Left Ventricle	heart
28	chr8:125858200-125861400	Enhancers	Ovary	ovary
29	chr8:125858200-125861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:125858400-125861600	Enhancers	Placenta	Placenta
31	chr8:125858600-125861000	Enhancers	Right Ventricle	heart
32	chr8:125858800-125859800	Enhancers	HSMM	muscle
33	chr8:125858800-125860000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:125858800-125860000	Enhancers	HSMMtube	muscle
35	chr8:125858800-125861000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:125858800-125861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:125858800-125861200	Enhancers	Fetal Muscle Leg	muscle
38	chr8:125858800-125861200	Enhancers	NHLF	lung
39	chr8:125859000-125859800	Enhancers	HUVEC	blood vessel
40	chr8:125859000-125859800	Enhancers	Osteobl	bone
41	chr8:125859000-125860400	Enhancers	Spleen	Spleen
42	chr8:125859000-125861200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:125859000-125861400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:125859000-125861600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:125859200-125859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:125859200-125860000	Enhancers	Lung	lung
47	chr8:125859200-125860000	Enhancers	Pancreas	Pancrea
48	chr8:125859200-125860200	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:125859200-125860200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:125859200-125860400	Enhancers	Esophagus	oesophagus

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