Variant report

Variant	rs7820232
Chromosome Location	chr8:125547669-125547670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125547530-125547918	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:125546592-125548413	K562	blood:	n/a	n/a
3	CEBPB	chr8:125547411-125547674	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
2	chr8:125487117..125490518-chr8:125542261..125547751,5	K562	blood:
3	chr8:125547520..125551844-chr8:126101419..126105683,3	MCF-7	breast:
4	chr8:125515035..125519543-chr8:125547357..125551225,5	MCF-7	breast:
5	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1128757	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11989584	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989882	1.00[MEX][hapmap]
rs11996628	1.00[MEX][hapmap]
rs11997363	1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs16899658	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899698	1.00[MEX][hapmap]
rs16899909	1.00[MEX][hapmap]
rs16899923	1.00[MEX][hapmap]
rs3924459	1.00[EUR][1000 genomes]
rs56946240	1.00[EUR][1000 genomes]
rs6470246	1.00[EUR][1000 genomes]
rs6997810	0.93[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997843	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73340053	1.00[EUR][1000 genomes]
rs73340071	1.00[EUR][1000 genomes]
rs7833362	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
4	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
6	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
13	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
17	chr8:125535800-125550000	Weak transcription	Thymus	Thymus
18	chr8:125537200-125550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:125537800-125550400	Weak transcription	Esophagus	oesophagus
20	chr8:125538200-125549600	Weak transcription	HUVEC	blood vessel
21	chr8:125538400-125549800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:125539000-125549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:125539400-125549800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:125539600-125549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:125539800-125549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:125539800-125550200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:125540000-125550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:125540200-125549400	Weak transcription	HMEC	breast
29	chr8:125540200-125549600	Weak transcription	HSMMtube	muscle
30	chr8:125540200-125549600	Weak transcription	Osteobl	bone
31	chr8:125540200-125549800	Weak transcription	NHDF-Ad	bronchial
32	chr8:125540200-125550000	Weak transcription	NH-A	brain
33	chr8:125540200-125550200	Weak transcription	Fetal Kidney	kidney
34	chr8:125540200-125550600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:125541200-125548800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:125541400-125549000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:125541800-125548000	Weak transcription	HepG2	liver
38	chr8:125541800-125550400	Weak transcription	Lung	lung
39	chr8:125542000-125548600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:125542800-125548400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:125542800-125548800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:125543800-125549600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:125543800-125549600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:125543800-125550000	Weak transcription	Stomach Mucosa	stomach
45	chr8:125544000-125549200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:125544000-125549400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:125544000-125549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:125544000-125549800	Weak transcription	Fetal Heart	heart
49	chr8:125544000-125550000	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:125544200-125549400	Weak transcription	Muscle Satellite Cultured Cells	--

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