Variant report

Variant	rs3829038
Chromosome Location	chr8:125561755-125561756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125561390-125562008	K562	blood:	n/a	n/a
2	POLR2A	chr8:125560790-125561821	HepG2	liver:	n/a	n/a
3	CTCF	chr8:125561720-125561870	AG09319	gingival:	n/a	n/a
4	POLR2A	chr8:125560838-125567410	HepG2	liver:	n/a	n/a
5	FOSL2	chr8:125560673-125561769	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125557600..125560665-chr8:125561474..125566163,6	MCF-7	breast:
2	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
3	chr19:39969776..39971710-chr8:125561754..125564240,2	MCF-7	breast:
4	chr8:125550551..125551259-chr8:125561525..125562151,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11542673	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986208	1.00[CEU][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs16899649	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16899653	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4128469	0.82[JPT][hapmap];0.91[YRI][hapmap]
rs4132855	0.82[JPT][hapmap]
rs4301437	1.00[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4870899	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870902	1.00[EUR][1000 genomes]
rs4871493	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871496	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871497	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55759812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55872747	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55946925	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56158167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56291877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67764028	0.96[EUR][1000 genomes]
rs72713064	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713066	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713068	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713072	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713074	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713078	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72713081	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713082	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713088	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72713090	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713094	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714703	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714706	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714707	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7812363	0.82[JPT][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
2	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
8	chr8:125553600-125566400	Strong transcription	A549	lung
9	chr8:125553600-125566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
12	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
13	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:125554200-125566800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
17	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125554400-125567400	Strong transcription	Colon Smooth Muscle	Colon
19	chr8:125554400-125568200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:125554400-125568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:125554400-125569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
24	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
25	chr8:125554600-125562200	Strong transcription	Brain Germinal Matrix	brain
26	chr8:125554600-125562400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr8:125554600-125562600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:125554600-125565400	Strong transcription	NH-A	brain
29	chr8:125554600-125566400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:125554600-125566400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:125554600-125566600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:125554600-125566600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:125554600-125568000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr8:125554800-125562400	Strong transcription	Brain Hippocampus Middle	brain
38	chr8:125554800-125562600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr8:125554800-125564400	Strong transcription	HSMMtube	muscle
40	chr8:125554800-125564800	Strong transcription	Hela-S3	cervix
41	chr8:125554800-125566800	Strong transcription	HSMM	muscle
42	chr8:125554800-125569200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:125555000-125566600	Strong transcription	NHLF	lung
44	chr8:125555000-125568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:125555200-125566400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:125555200-125566400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:125555200-125566600	Strong transcription	Fetal Kidney	kidney
48	chr8:125555200-125569000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
50	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum

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