Variant report

Variant	rs13266321
Chromosome Location	chr8:105600732-105600733
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	MAZ	chr8:105599933-105602287	K562	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
2	POLR2A	chr8:105600267-105602170	K562	blood:	n/a	n/a
3	RCOR1	chr8:105600069-105601948	IMR90	lung:	n/a	n/a
4	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
5	POLR2A	chr8:105600685-105601715	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr8:105600590-105601625	ECC-1	luminal epithelium:	n/a	chr8:105600747-105600755
7	POLR2A	chr8:105600524-105602191	GM19099	blood:	n/a	n/a
8	BACH1	chr8:105600417-105600945	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr8:105600357-105601707	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr8:105600409-105601158	ECC-1	luminal epithelium:	n/a	chr8:105600747-105600755
11	POLR2A	chr8:105600518-105602105	GM19193	blood:	n/a	n/a
12	MAZ	chr8:105600371-105601965	GM12878	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
13	ZNF143	chr8:105600359-105601753	GM12878	blood:	n/a	chr8:105601341-105601351 chr8:105601726-105601744 chr8:105601463-105601473
14	POLR2A	chr8:105600494-105600777	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:105600573-105600752	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:105600567-105601753	K562	blood:	n/a	n/a
17	POLR2A	chr8:105600680-105600788	HUVEC	blood vessel:	n/a	n/a
18	E2F6	chr8:105600463-105602154	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105600629-105600638 chr8:105601535-105601546
19	POLR2A	chr8:105600660-105600771	GM12878	blood:	n/a	n/a
20	EGR1	chr8:105600483-105600776	GM12878	blood:	n/a	chr8:105600629-105600639 chr8:105600624-105600637 chr8:105600624-105600637 chr8:105600658-105600672 chr8:105600660-105600669 chr8:105600625-105600639 chr8:105600624-105600637 chr8:105600623-105600638 chr8:105600660-105600670 chr8:105600657-105600670
21	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
22	E2F4	chr8:105600399-105602092	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105600629-105600638
23	HMGN3	chr8:105600276-105602042	K562	blood:	n/a	n/a
24	POLR2A	chr8:105600593-105602089	GM15510	blood:	n/a	n/a
25	POLR2A	chr8:105600562-105601728	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr8:105600730-105602279	K562	blood:	n/a	n/a
27	MAZ	chr8:105599837-105602298	IMR90	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
28	POLR2A	chr8:105600531-105601965	Hela-S3	cervix:	n/a	n/a
29	SIN3A	chr8:105600223-105602305	H1-hESC	embryonic stem cell:	n/a	chr8:105602050-105602063
30	POLR2A	chr8:105600414-105602124	GM18505	blood:	n/a	n/a
31	POLR2A	chr8:105600274-105602135	GM18951	blood:	n/a	n/a
32	POLR2A	chr8:105600315-105602882	K562	blood:	n/a	n/a
33	MTA3	chr8:105600699-105601219	GM12878	blood:	n/a	n/a
34	UBTF	chr8:105600006-105602351	K562	blood:	n/a	n/a
35	MAX	chr8:105600243-105602207	A549	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
36	CTBP2	chr8:105600348-105601777	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:105600432-105601803	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr8:105599778-105602289	K562	blood:	n/a	n/a
39	ELF1	chr8:105600375-105602116	GM12878	blood:	n/a	chr8:105600654-105600666 chr8:105600650-105600659 chr8:105601544-105601556
40	ZBTB7A	chr8:105600732-105601759	K562	blood:	n/a	chr8:105600747-105600755
41	CCNT2	chr8:105600412-105602093	K562	blood:	n/a	chr8:105601731-105601740 chr8:105600629-105600638
42	POLR2A	chr8:105597878-105602244	GM12878	blood:	n/a	n/a
43	MXI1	chr8:105599894-105602519	IMR90	lung:	n/a	n/a
44	EGR1	chr8:105600372-105601024	K562	blood:	n/a	chr8:105600629-105600639 chr8:105600902-105600916 chr8:105600624-105600637 chr8:105600781-105600794 chr8:105600624-105600637 chr8:105600658-105600672 chr8:105600660-105600669 chr8:105600625-105600639 chr8:105600904-105600919 chr8:105600624-105600637 chr8:105600905-105600918 chr8:105600623-105600638 chr8:105600660-105600670 chr8:105600657-105600670
45	EP300	chr8:105600411-105601879	SK-N-SH	brain:	n/a	chr8:105601463-105601472 chr8:105601724-105601740 chr8:105601721-105601737 chr8:105601465-105601474 chr8:105601246-105601262
46	POLR2A	chr8:105600184-105601749	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr8:105600712-105602232	K562	blood:	n/a	chr8:105601356-105601365
48	MXI1	chr8:105598816-105602682	SK-N-SH	brain:	n/a	n/a
49	EGR1	chr8:105600368-105601034	K562	blood:	n/a	chr8:105600629-105600639 chr8:105600902-105600916 chr8:105600624-105600637 chr8:105600781-105600794 chr8:105600624-105600637 chr8:105600658-105600672 chr8:105600660-105600669 chr8:105600625-105600639 chr8:105600904-105600919 chr8:105600624-105600637 chr8:105600905-105600918 chr8:105600623-105600638 chr8:105600660-105600670 chr8:105600657-105600670
50	SRF	chr8:105600727-105601968	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:105600724-105600774	Jurkat	blood:	n/a
2	chr8:105600724-105600774	RPTEC	kidney:	n/a
3	chr8:105600724-105600774	ECC-1	luminal epithelium:	n/a
4	chr8:105600724-105600774	LNCaP	prostate:	n/a
5	chr8:105600724-105600774	GM12891	blood:	n/a
6	chr8:105600724-105600774	SK-N-SH	brain:	n/a
7	chr8:105600724-105600774	HIPEpiC	eye:	n/a
8	chr8:105600724-105600774	U87	brain:	n/a
9	chr8:105600724-105600774	NB4	blood:	n/a
10	chr8:105600724-105600774	MCF10A-Er-Src	breast:	n/a
11	chr8:105600724-105600774	HEEpiC	esophagus:	n/a
12	chr8:105600724-105600774	ProgFib	skin:	n/a
13	chr8:105600724-105600774	Hepatocyte	liver:	n/a
14	chr8:105600724-105600774	HEK293	kidney:	embryo
15	chr8:105600724-105600774	AG04450	lung:	fetal
16	chr8:105600724-105600774	HCPEpiC	choroid plexus:	n/a
17	chr8:105600724-105600774	SKMC	muscle:	n/a
18	chr8:105600724-105600774	AG10803	skin:	n/a
19	chr8:105600724-105600774	GM12878	blood:	n/a
20	chr8:105600724-105600774	HCT-116	colon:	n/a
21	chr8:105600724-105600774	HMEC	breast:	n/a
22	chr8:105600724-105600774	HCF	heart:	n/a
23	chr8:105600724-105600774	CMK	blood:	n/a
24	chr8:105600724-105600774	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:105600724-105600774	SAEC	small airway:	n/a
26	chr8:105600724-105600774	SK-N-SH_RA	brain:	n/a
27	chr8:105600724-105600774	AG09319	gingival:	n/a
28	chr8:105600724-105600774	PFSK-1	brain:	n/a
29	chr8:105600724-105600774	PrEC	prostate:	n/a
30	chr8:105600724-105600774	HL-60	blood:	n/a
31	chr8:105600724-105600774	IMR90	lung:	fetal
32	chr8:105600724-105600774	HAEpiC	amniotic membrane:	n/a
33	chr8:105600724-105600774	HRE	kidney:	n/a
34	chr8:105600724-105600774	NH-A	brain:	n/a
35	chr8:105600724-105600774	BE2_C	brain:	n/a
36	chr8:105600724-105600774	GM19239	blood:	n/a
37	chr8:105600724-105600774	GM12892	blood:	n/a
38	chr8:105600724-105600774	GM06990	blood:	n/a
39	chr8:105600724-105600774	A549	lung:	n/a
40	chr8:105600724-105600774	NHDF-neo	bronchial:	n/a
41	chr8:105600724-105600774	NT2-D1	testis:	n/a
42	chr8:105600724-105600774	HRCEpiC	kidney:	n/a
43	chr8:105600724-105600774	ovcar-3	ovarian:	n/a
44	chr8:105600724-105600774	AoSMC	blood vessel:	n/a
45	chr8:105600724-105600774	T-47D	breast:	n/a
46	chr8:105600724-105600774	HNPCEpiC	eye:	n/a
47	chr8:105600724-105600774	H1-hESC	embryonic stem cell:	embryo
48	chr8:105600724-105600774	Hela-S3	cervix:	n/a
49	chr8:105600724-105600774	PANC-1	pancreas:	n/a
50	chr8:105600724-105600774	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000253350	CpG island
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10955352	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955357	0.80[AMR][1000 genomes]
rs11775166	0.80[AMR][1000 genomes]
rs11776230	0.80[AMR][1000 genomes]
rs11782865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11782889	0.83[AFR][1000 genomes]
rs11783104	0.80[AMR][1000 genomes]
rs11995774	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996303	0.82[AFR][1000 genomes]
rs12678962	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680250	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681898	0.82[AFR][1000 genomes]
rs13268597	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2028244	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28481880	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3018438	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34008887	0.80[AMR][1000 genomes]
rs35263244	0.80[AMR][1000 genomes]
rs35328383	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35379160	0.80[AMR][1000 genomes]
rs35465370	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35467682	0.80[AMR][1000 genomes]
rs35649342	0.83[AFR][1000 genomes]
rs4236775	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4263729	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338071	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59294667	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66494641	0.80[AMR][1000 genomes]
rs67089516	0.80[AMR][1000 genomes]
rs67712332	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010576	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7465442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7823671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834086	0.84[AFR][1000 genomes]
rs7841202	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9694676	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
2	chr8:105598800-105602000	Active TSS	Brain Anterior Caudate	brain
3	chr8:105598800-105602000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:105599000-105602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:105599200-105602000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:105599200-105602400	Active TSS	Right Atrium	heart
7	chr8:105599200-105602400	Active TSS	Right Ventricle	heart
8	chr8:105599400-105601000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:105599400-105602200	Active TSS	Left Ventricle	heart
10	chr8:105599600-105600800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:105599600-105601800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:105599600-105602400	Active TSS	Colonic Mucosa	Colon
13	chr8:105599800-105601800	Active TSS	Fetal Brain Female	brain
14	chr8:105599800-105602000	Active TSS	Brain Angular Gyrus	brain
15	chr8:105599800-105602000	Active TSS	Brain Cingulate Gyrus	brain
16	chr8:105599800-105602200	Active TSS	Fetal Kidney	kidney
17	chr8:105599800-105602400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:105599800-105602400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:105599800-105602400	Active TSS	HSMMtube	muscle
20	chr8:105600000-105601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:105600000-105601400	Active TSS	Fetal Brain Male	brain
22	chr8:105600000-105601800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:105600000-105601800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:105600000-105601800	Active TSS	Fetal Intestine Small	intestine
25	chr8:105600000-105601800	Active TSS	Fetal Muscle Trunk	muscle
26	chr8:105600000-105601800	Active TSS	K562	blood
27	chr8:105600000-105601800	Active TSS	NH-A	brain
28	chr8:105600000-105602000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:105600000-105602000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:105600000-105602000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:105600000-105602000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr8:105600000-105602000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr8:105600000-105602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:105600000-105602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:105600000-105602200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:105600000-105602400	Active TSS	Aorta	Aorta
39	chr8:105600000-105602400	Active TSS	Brain Substantia Nigra	brain
40	chr8:105600000-105602400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:105600000-105602400	Active TSS	HSMM	muscle
42	chr8:105600000-105602400	Active TSS	NHDF-Ad	bronchial
43	chr8:105600000-105602600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:105600000-105602600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:105600000-105602600	Active TSS	Fetal Lung	lung
46	chr8:105600000-105602800	Active TSS	Thymus	Thymus
47	chr8:105600200-105600800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr8:105600200-105600800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr8:105600200-105600800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr8:105600200-105601000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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