Variant report

Variant	rs58972679
Chromosome Location	chr8:90771415-90771416
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	POLR2A	chr8:90768781-90771950	MCF10A-Er-Src	breast:	n/a	n/a
2	ZC3H11A	chr8:90771291-90771614	K562	blood:	n/a	n/a
3	POLR2A	chr8:90771295-90771984	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr8:90771386-90772091	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr8:90771379-90771806	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:90771397-90771717	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:90771345-90771944	SK-N-SH	brain:	n/a	chr8:90771478-90771485
8	EP300	chr8:90771400-90771800	Hela-S3	cervix:	n/a	chr8:90771598-90771606
9	ZMIZ1	chr8:90771249-90771905	K562	blood:	n/a	n/a
10	JUND	chr8:90771219-90772433	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
11	ARID3A	chr8:90771089-90771807	K562	blood:	n/a	n/a
12	JUN	chr8:90771040-90772820	K562	blood:	n/a	chr8:90771657-90771666 chr8:90772350-90772361
13	CEBPB	chr8:90771360-90771943	IMR90	lung:	n/a	n/a
14	FOS	chr8:90771386-90771839	MCF10A-Er-Src	breast:	n/a	chr8:90771657-90771666
15	NFYA	chr8:90771371-90772097	K562	blood:	n/a	chr8:90771657-90771670 chr8:90771658-90771668 chr8:90771659-90771671
16	POLR2A	chr8:90771227-90771850	U87	brain:	n/a	n/a
17	RCOR1	chr8:90771171-90772444	K562	blood:	n/a	n/a
18	NFYB	chr8:90771357-90771842	GM12878	blood:	n/a	chr8:90771657-90771670 chr8:90771658-90771668 chr8:90771657-90771672 chr8:90771659-90771671
19	GTF2F1	chr8:90771340-90772117	Hela-S3	cervix:	n/a	n/a
20	TEAD4	chr8:90771161-90771960	K562	blood:	n/a	n/a
21	CEBPB	chr8:90771296-90771918	MCF-7	breast:	n/a	n/a
22	ARID3A	chr8:90771385-90771852	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:90771335-90771837	K562	blood:	n/a	n/a
24	BHLHE40	chr8:90771354-90772049	K562	blood:	n/a	n/a
25	TBP	chr8:90771391-90771761	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:90768858-90771770	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:90771342-90771905	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr8:90771390-90771879	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr8:90771412-90772019	K562	blood:	n/a	n/a
30	CEBPB	chr8:90771320-90772038	K562	blood:	n/a	chr8:90771995-90772008
31	JUN	chr8:90771326-90771872	K562	blood:	n/a	chr8:90771657-90771666
32	POLR2A	chr8:90771333-90771888	HepG2	liver:	n/a	n/a
33	TBP	chr8:90771371-90772091	K562	blood:	n/a	n/a
34	POLR2A	chr8:90771197-90772572	IMR90	lung:	n/a	n/a
35	SIN3AK20	chr8:90769006-90772678	MCF-7	breast:	n/a	n/a
36	JUN	chr8:90771353-90771897	K562	blood:	n/a	chr8:90771657-90771666
37	FOS	chr8:90771313-90771832	MCF10A-Er-Src	breast:	n/a	chr8:90771657-90771666
38	GATA3	chr8:90771351-90772822	SK-N-SH	brain:	n/a	chr8:90772298-90772307
39	MYC	chr8:90771200-90771687	MCF10A-Er-Src	breast:	n/a	chr8:90771478-90771485
40	STAT3	chr8:90771267-90771832	MCF10A-Er-Src	breast:	n/a	chr8:90771695-90771703 chr8:90771451-90771462
41	NFIC	chr8:90771369-90772734	SK-N-SH	brain:	n/a	n/a
42	ATF1	chr8:90771400-90771928	K562	blood:	n/a	n/a
43	CEBPB	chr8:90771278-90771951	A549	lung:	n/a	n/a
44	GATA3	chr8:90771405-90771921	T-47D	breast:	n/a	n/a
45	FOXA1	chr8:90771391-90771749	HepG2	liver:	n/a	n/a
46	POLR2A	chr8:90771343-90771829	Hela-S3	cervix:	n/a	n/a
47	CUX1	chr8:90771324-90772252	K562	blood:	n/a	n/a
48	CEBPB	chr8:90771345-90771888	MCF-7	breast:	n/a	n/a
49	PBX3	chr8:90771406-90772817	SK-N-SH	brain:	n/a	chr8:90771658-90771667
50	POLR2A	chr8:90771189-90771908	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr2:202645504..202647733-chr8:90769279..90771454,2	MCF-7	breast:
3	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
4	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
5	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
6	chr8:90770153..90772840-chr8:91007393..91009503,2	K562	blood:
7	chr6:27099899..27102052-chr8:90770515..90773024,2	MCF-7	breast:
8	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
9	chr8:90731255..90734229-chr8:90770926..90773381,2	MCF-7	breast:
10	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
11	chr8:90770081..90772255-chr8:90988919..90991592,2	MCF-7	breast:
12	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
13	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
14	chr8:90770923..90772478-chr8:91013915..91015881,2	K562	blood:
15	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000003393	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000207359	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10504882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900025	0.97[ASN][1000 genomes]
rs16900480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900484	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900581	0.90[ASN][1000 genomes]
rs16900589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900592	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900617	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16900677	0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55697113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55702923	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55881928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55914077	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55945927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56118532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56275901	0.97[ASN][1000 genomes]
rs56302550	1.00[ASN][1000 genomes]
rs56716125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56793332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57701764	1.00[ASN][1000 genomes]
rs58330617	1.00[ASN][1000 genomes]
rs59312383	1.00[ASN][1000 genomes]
rs59581432	1.00[ASN][1000 genomes]
rs59678171	1.00[ASN][1000 genomes]
rs59924471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59941801	1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60327583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60651842	1.00[ASN][1000 genomes]
rs60691618	1.00[ASN][1000 genomes]
rs60772522	1.00[ASN][1000 genomes]
rs60959735	1.00[ASN][1000 genomes]
rs61017576	0.90[ASN][1000 genomes]
rs61044501	0.97[ASN][1000 genomes]
rs61258433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61450435	1.00[ASN][1000 genomes]
rs61662505	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7010806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73694459	0.97[ASN][1000 genomes]
rs73694461	0.97[ASN][1000 genomes]
rs73694462	0.97[ASN][1000 genomes]
rs73694463	0.95[ASN][1000 genomes]
rs73694485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694487	0.90[ASN][1000 genomes]
rs73694488	0.90[ASN][1000 genomes]
rs73694490	0.90[ASN][1000 genomes]
rs73694492	0.90[ASN][1000 genomes]
rs73694493	0.90[ASN][1000 genomes]
rs73694496	0.85[ASN][1000 genomes]
rs7817339	0.97[ASN][1000 genomes]
rs7829418	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7830914	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7839470	0.97[ASN][1000 genomes]
rs7839478	0.97[ASN][1000 genomes]
rs9721216	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90765400-90771600	Active TSS	GM12878-XiMat	blood
2	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:90766800-90771800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:90768000-90771800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:90768000-90771800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:90768200-90771800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:90768400-90771600	Active TSS	Stomach Smooth Muscle	stomach
8	chr8:90768400-90771800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:90768400-90771800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:90768400-90772000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:90768800-90771600	Active TSS	Placenta	Placenta
12	chr8:90768800-90771600	Active TSS	NHDF-Ad	bronchial
13	chr8:90768800-90771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:90768800-90771800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:90768800-90772000	Active TSS	Aorta	Aorta
16	chr8:90768800-90772000	Active TSS	HSMMtube	muscle
17	chr8:90768800-90772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:90769000-90771600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr8:90769000-90771600	Active TSS	Ovary	ovary
20	chr8:90769000-90771600	Active TSS	Right Ventricle	heart
21	chr8:90769000-90771600	Active TSS	Stomach Mucosa	stomach
22	chr8:90769000-90771800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:90769000-90771800	Active TSS	Colonic Mucosa	Colon
24	chr8:90769000-90771800	Active TSS	HSMM	muscle
25	chr8:90769000-90772000	Active TSS	Fetal Muscle Trunk	muscle
26	chr8:90769000-90772000	Active TSS	Thymus	Thymus
27	chr8:90769000-90772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:90769200-90771600	Active TSS	Liver	Liver
29	chr8:90769200-90771600	Active TSS	Left Ventricle	heart
30	chr8:90769200-90771600	Active TSS	Psoas Muscle	Psoas
31	chr8:90769200-90771800	Active TSS	A549	lung
32	chr8:90769400-90771600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:90769400-90771800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:90769400-90772000	Active TSS	Lung	lung
35	chr8:90769600-90771600	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr8:90769600-90771600	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:90770400-90771600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr8:90770400-90771600	Active TSS	Right Atrium	heart
39	chr8:90770400-90772000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:90770400-90772400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:90770400-90772600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:90770600-90771800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:90770600-90771800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr8:90770600-90771800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:90770600-90772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:90770800-90771600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:90770800-90771600	Weak transcription	Spleen	Spleen
48	chr8:90770800-90771600	Active TSS	HepG2	liver
49	chr8:90770800-90771800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:90770800-90771800	Weak transcription	Small Intestine	intestine

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