Variant report

Variant	rs3779982
Chromosome Location	chr8:124409480-124409481
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:124408217-124409532	MCF-7	breast:	n/a	n/a
2	E2F6	chr8:124408440-124409612	H1-hESC	embryonic stem cell:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408970-124408978 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124409071-124409082 chr8:124408972-124408987 chr8:124408970-124408980
3	POLR2A	chr8:124406891-124409691	GM12891	blood:	n/a	n/a
4	TCF12	chr8:124408259-124409547	ECC-1	luminal epithelium:	n/a	n/a
5	E2F4	chr8:124407644-124410228	MCF10A-Er-Src	breast:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408970-124408978 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124408972-124408987 chr8:124408970-124408980
6	GATA1	chr8:124408480-124409519	PBDE	blood:	n/a	n/a
7	E2F6	chr8:124408323-124409560	A549	lung:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408970-124408978 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124409071-124409082 chr8:124408972-124408987 chr8:124408970-124408980
8	MAX	chr8:124408447-124409557	H1-hESC	embryonic stem cell:	n/a	chr8:124408752-124408761
9	SIN3AK20	chr8:124407087-124409544	MCF-7	breast:	n/a	n/a
10	MAX	chr8:124407439-124409545	HCT-116	colon:	n/a	chr8:124408752-124408761
11	ZNF384	chr8:124408501-124409764	K562	blood:	n/a	n/a
12	CBX3	chr8:124408293-124409481	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
2	chr8:124408566..124410301-chr8:124410632..124412919,2	MCF-7	breast:
3	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
4	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
5	chr8:124406999..124409661-chr8:124439973..124442313,3	MCF-7	breast:
6	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
7	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
8	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
9	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
10	chr8:124359033..124362786-chr8:124406148..124409759,5	MCF-7	breast:
11	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
12	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
13	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
14	chr8:124409346..124411086-chr8:124417132..124419397,2	K562	blood:

Variant related genes	Relation type
IMPDH1P6	TF binding region
ATAD2	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000254294	Chromatin interaction
ENSG00000207704	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28690688	0.85[EUR][1000 genomes]
rs34573020	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779983	0.87[EUR][1000 genomes]
rs4871359	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56029347	0.81[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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124407000-124409800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:124407200-124409600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:124407600-124409600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:124407600-124409600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:124407600-124409600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr8:124407600-124409600	Active TSS	Osteobl	bone
7	chr8:124408000-124409600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:124408200-124409800	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:124409000-124409600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr8:124409000-124409600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr8:124409000-124409800	Flanking Active TSS	Dnd41	blood
12	chr8:124409000-124412800	Weak transcription	Gastric	stomach
13	chr8:124409000-124412800	Weak transcription	Pancreas	Pancrea
14	chr8:124409200-124409600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr8:124409200-124409600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:124409200-124409600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:124409200-124409600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:124409200-124409600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:124409200-124409600	Flanking Active TSS	Thymus	Thymus
20	chr8:124409200-124409600	Enhancers	HepG2	liver
21	chr8:124409200-124409600	Flanking Active TSS	HUVEC	blood vessel
22	chr8:124409200-124409800	Enhancers	Hela-S3	cervix
23	chr8:124409200-124413000	Weak transcription	Esophagus	oesophagus
24	chr8:124409200-124413000	Weak transcription	Lung	lung
25	chr8:124409200-124415600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:124409400-124409600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:124409400-124409600	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr8:124409400-124409600	Enhancers	Primary B cells from cord blood	blood
29	chr8:124409400-124409600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:124409400-124409600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:124409400-124409600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:124409400-124409600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:124409400-124409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:124409400-124409600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr8:124409400-124409600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:124409400-124409600	Enhancers	Fetal Heart	heart
37	chr8:124409400-124409600	Enhancers	Fetal Thymus	thymus
38	chr8:124409400-124409600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr8:124409400-124409800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:124409400-124409800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr8:124409400-124409800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr8:124409400-124409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:124409400-124409800	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:124409400-124409800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:124409400-124409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:124409400-124409800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:124409400-124409800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:124409400-124409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:124409400-124409800	Enhancers	Fetal Kidney	kidney
50	chr8:124409400-124409800	Enhancers	NHDF-Ad	bronchial

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