Variant report

Variant	rs3779983
Chromosome Location	chr8:124407846-124407847
allele	A/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	HDAC2	chr8:124407389-124409357	MCF-7	breast:	n/a	chr8:124409225-124409239 chr8:124408888-124408902
2	CHD2	chr8:124407714-124409264	Hela-S3	cervix:	n/a	chr8:124408000-124408010
3	CHD2	chr8:124407460-124409376	GM12878	blood:	n/a	chr8:124408000-124408010
4	POLR2A	chr8:124407480-124409035	HepG2	liver:	n/a	n/a
5	RCOR1	chr8:124407634-124408350	HepG2	liver:	n/a	n/a
6	FOS	chr8:124407730-124407955	MCF10A-Er-Src	breast:	n/a	n/a
7	YY1	chr8:124407841-124408137	HCT-116	colon:	n/a	n/a
8	ZNF263	chr8:124407463-124408194	HEK293-T-REx	kidney:	n/a	chr8:124407655-124407664
9	CREB1	chr8:124407539-124408223	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:124407248-124409174	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:124407798-124409309	HL-60	blood:	n/a	n/a
12	YY1	chr8:124407787-124409231	GM12892	blood:	n/a	chr8:124408705-124408719 chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408278-124408288 chr8:124408984-124408993
13	TAF1	chr8:124407485-124409233	Hela-S3	cervix:	n/a	n/a
14	TBL1XR1	chr8:124407193-124408135	K562	blood:	n/a	n/a
15	SIN3AK20	chr8:124407293-124409452	MCF-7	breast:	n/a	n/a
16	POLR2A	chr8:124407464-124407940	GM12892	blood:	n/a	n/a
17	GTF2F1	chr8:124407668-124407968	K562	blood:	n/a	n/a
18	POLR2A	chr8:124407476-124409264	K562	blood:	n/a	n/a
19	YY1	chr8:124407771-124408439	ECC-1	luminal epithelium:	n/a	chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408278-124408288
20	MAX	chr8:124407774-124409266	Hela-S3	cervix:	n/a	chr8:124408752-124408761
21	CEBPB	chr8:124407708-124408343	A549	lung:	n/a	chr8:124407897-124407908 chr8:124407896-124407909
22	JUND	chr8:124407624-124408066	K562	blood:	n/a	n/a
23	RELA	chr8:124407506-124409173	GM15510	blood:	n/a	n/a
24	SIN3AK20	chr8:124407773-124409203	K562	blood:	n/a	n/a
25	TBP	chr8:124407468-124409303	K562	blood:	n/a	n/a
26	RFX5	chr8:124407504-124409294	Hela-S3	cervix:	n/a	chr8:124409015-124409024
27	HA-E2F1	chr8:124407792-124409406	MCF-7	breast:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408684-124408695 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124408972-124408987 chr8:124408970-124408980
28	PML	chr8:124407342-124408056	GM12878	blood:	n/a	n/a
29	FOXM1	chr8:124407384-124407930	GM12878	blood:	n/a	n/a
30	MXI1	chr8:124407566-124409224	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:124407375-124409037	GM12878	blood:	n/a	n/a
32	WRNIP1	chr8:124407303-124407990	GM12878	blood:	n/a	n/a
33	JUND	chr8:124407438-124407880	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr8:124407435-124408877	GM12878	blood:	n/a	chr8:124408000-124408010
35	YY1	chr8:124407818-124409160	H1-hESC	embryonic stem cell:	n/a	chr8:124408705-124408719 chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408278-124408288 chr8:124408984-124408993
36	CTBP2	chr8:124407817-124409277	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr8:124407363-124409221	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:124407446-124409285	GM19099	blood:	n/a	n/a
39	POLR2A	chr8:124407279-124409150	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr8:124407395-124409244	K562	blood:	n/a	chr8:124408752-124408761
41	RAD21	chr8:124407473-124408306	HepG2	liver:	n/a	chr8:124408055-124408064
42	MAX	chr8:124407244-124409453	MCF-7	breast:	n/a	chr8:124408752-124408761
43	POLR2A	chr8:124407461-124409273	Raji	blood:	n/a	n/a
44	CREB1	chr8:124407412-124409306	GM12878	blood:	n/a	n/a
45	SMC3	chr8:124407549-124407914	K562	blood:	n/a	n/a
46	POLR2A	chr8:124407544-124409187	HepG2	liver:	n/a	n/a
47	MAX	chr8:124407565-124409282	GM12878	blood:	n/a	chr8:124408752-124408761
48	MYC	chr8:124407503-124409245	NB4	blood:	n/a	chr8:124408752-124408761
49	RFX5	chr8:124407758-124407958	K562	blood:	n/a	n/a
50	POLR2A	chr8:124407488-124409076	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124407825-124407875	RPTEC	kidney:	n/a
2	chr8:124407825-124407875	HepG2	liver:	n/a
3	chr8:124407825-124407875	GM19239	blood:	n/a
4	chr8:124407825-124407875	K562	blood:	n/a
5	chr8:124407825-124407875	AG09319	gingival:	n/a
6	chr8:124407825-124407875	SK-N-MC	brain:	n/a
7	chr8:124407825-124407875	SKMC	muscle:	n/a
8	chr8:124407825-124407875	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:124407825-124407875	SK-N-SH	brain:	n/a
10	chr8:124407825-124407875	HCT-116	colon:	n/a
11	chr8:124407825-124407875	Hepatocyte	liver:	n/a
12	chr8:124407825-124407875	NHBE	bronchial:	n/a
13	chr8:124407825-124407875	HIPEpiC	eye:	n/a
14	chr8:124407825-124407875	PFSK-1	brain:	n/a
15	chr8:124407825-124407875	NHDF-neo	bronchial:	n/a
16	chr8:124407825-124407875	HCF	heart:	n/a
17	chr8:124407825-124407875	LNCaP	prostate:	n/a
18	chr8:124407825-124407875	GM12878	blood:	n/a
19	chr8:124407825-124407875	IMR90	lung:	fetal
20	chr8:124407825-124407875	NT2-D1	testis:	n/a
21	chr8:124407825-124407875	SAEC	small airway:	n/a
22	chr8:124407825-124407875	BJ	skin:	n/a
23	chr8:124407825-124407875	HEEpiC	esophagus:	n/a
24	chr8:124407825-124407875	MCF-7	breast:	n/a
25	chr8:124407825-124407875	T-47D	breast:	n/a
26	chr8:124407825-124407875	Caco-2	colon:	n/a
27	chr8:124407825-124407875	PrEC	prostate:	n/a
28	chr8:124407825-124407875	GM12891	blood:	n/a
29	chr8:124407825-124407875	ovcar-3	ovarian:	n/a
30	chr8:124407825-124407875	Jurkat	blood:	n/a
31	chr8:124407825-124407875	SK-N-SH_RA	brain:	n/a
32	chr8:124407825-124407875	ProgFib	skin:	n/a
33	chr8:124407825-124407875	H1-hESC	embryonic stem cell:	embryo
34	chr8:124407825-124407875	AG04450	lung:	fetal
35	chr8:124407825-124407875	U87	brain:	n/a
36	chr8:124407825-124407875	Hela-S3	cervix:	n/a
37	chr8:124407825-124407875	HRPEpiC	eye:	n/a
38	chr8:124407825-124407875	NB4	blood:	n/a
39	chr8:124407825-124407875	AG04449	skin:	fetal
40	chr8:124407825-124407875	HL-60	blood:	n/a
41	chr8:124407825-124407875	HCM	heart:	n/a
42	chr8:124407825-124407875	HMEC	breast:	n/a
43	chr8:124407825-124407875	MCF10A-Er-Src	breast:	n/a
44	chr8:124407825-124407875	GM06990	blood:	n/a
45	chr8:124407825-124407875	PANC-1	pancreas:	n/a
46	chr8:124407825-124407875	BE2_C	brain:	n/a
47	chr8:124407825-124407875	NH-A	brain:	n/a
48	chr8:124407825-124407875	HRCEpiC	kidney:	n/a
49	chr8:124407825-124407875	AG10803	skin:	n/a
50	chr8:124407825-124407875	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
2	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
3	chr1:153585038..153585672-chr8:124407384..124408376,2	Hela-S3	cervix:
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	chr8:124252875..124255334-chr8:124406882..124408713,2	K562	blood:
8	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
9	chr8:124407395..124409039-chr8:125486191..125487874,2	MCF-7	breast:
10	chr10:43904273..43904865-chr8:124407647..124408293,2	Hela-S3	cervix:
11	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
12	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
13	chr8:124359033..124362786-chr8:124406148..124409759,5	MCF-7	breast:
14	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
15	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
16	chr8:124358909..124361096-chr8:124406996..124408510,2	K562	blood:
17	chr19:7933724..7934344-chr8:124407466..124408163,2	Hela-S3	cervix:

Variant related genes	Relation type
IMPDH1P6	TF binding region
IMPDH1P6	CpG island
ENSG00000189376	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000254294	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000207704	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000188643	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];0.81[ASN][1000 genomes]
rs34573020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779982	0.87[EUR][1000 genomes]
rs4871359	0.94[EUR][1000 genomes];0.92[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124402400-124408600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr8:124406600-124408000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:124406600-124409000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:124406600-124409000	Active TSS	GM12878-XiMat	blood
5	chr8:124406800-124408000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124406800-124409400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:124406800-124409400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:124406800-124409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:124407000-124409000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:124407000-124409000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:124407000-124409000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:124407000-124409000	Active TSS	K562	blood
13	chr8:124407000-124409200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:124407000-124409200	Active TSS	Fetal Heart	heart
15	chr8:124407000-124409200	Active TSS	Fetal Intestine Large	intestine
16	chr8:124407000-124409200	Active TSS	Fetal Kidney	kidney
17	chr8:124407000-124409200	Active TSS	NHDF-Ad	bronchial
18	chr8:124407000-124409400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:124407000-124409400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:124407000-124409400	Active TSS	Right Ventricle	heart
21	chr8:124407000-124409800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:124407200-124408000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:124407200-124408000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:124407200-124408000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr8:124407200-124408000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:124407200-124408000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr8:124407200-124408200	ZNF genes & repeats	Fetal Brain Male	brain
28	chr8:124407200-124409000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:124407200-124409000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr8:124407200-124409200	Active TSS	Fetal Muscle Trunk	muscle
31	chr8:124407200-124409200	Active TSS	A549	lung
32	chr8:124407200-124409200	Active TSS	Hela-S3	cervix
33	chr8:124407200-124409200	Active TSS	HMEC	breast
34	chr8:124407200-124409400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:124407200-124409400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:124407200-124409400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:124407200-124409400	Active TSS	Colonic Mucosa	Colon
38	chr8:124407200-124409400	Active TSS	Right Atrium	heart
39	chr8:124407200-124409400	Active TSS	NHLF	lung
40	chr8:124407200-124409600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:124407400-124408000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:124407400-124408000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr8:124407400-124408000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr8:124407400-124408000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:124407400-124408200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:124407400-124408200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr8:124407400-124408200	Bivalent/Poised TSS	HepG2	liver
48	chr8:124407400-124408800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:124407400-124409000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:124407400-124409000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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