Variant report

Variant	rs28649712
Chromosome Location	chr8:103405249-103405250
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	chr8:103404854-103405263	K562	blood:	n/a	n/a
2	EP300	chr8:103404780-103405394	K562	blood:	n/a	n/a
3	GATA1	chr8:103404865-103405431	PBDE	blood:	n/a	chr8:103405120-103405136 chr8:103405037-103405046 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405123-103405132 chr8:103405123-103405133
4	BACH1	chr8:103405143-103405409	K562	blood:	n/a	n/a
5	TBL1XR1	chr8:103404893-103405288	K562	blood:	n/a	n/a
6	IRF1	chr8:103404307-103405460	K562	blood:	n/a	n/a
7	CBX3	chr8:103404851-103405331	K562	blood:	n/a	n/a
8	E2F4	chr8:103405185-103405385	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFF	chr8:103404934-103405319	K562	blood:	n/a	n/a
10	STAT5A	chr8:103404775-103405395	K562	blood:	n/a	n/a
11	CEBPD	chr8:103404818-103405392	K562	blood:	n/a	n/a
12	GABPA	chr8:103404931-103405264	K562	blood:	n/a	n/a
13	ZNF143	chr8:103404998-103405289	K562	blood:	n/a	n/a
14	GATA2	chr8:103404890-103405261	K562	blood:	n/a	chr8:103405120-103405136 chr8:103405037-103405046 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405123-103405132 chr8:103405123-103405133
15	CUX1	chr8:103404877-103405356	K562	blood:	n/a	n/a
16	CEBPD	chr8:103404770-103405492	K562	blood:	n/a	n/a
17	CEBPB	chr8:103404853-103405402	K562	blood:	n/a	n/a
18	JUN	chr8:103404960-103405325	K562	blood:	n/a	n/a
19	RCOR1	chr8:103404989-103405333	K562	blood:	n/a	n/a
20	PML	chr8:103404813-103405421	K562	blood:	n/a	n/a
21	IRF1	chr8:103404745-103405334	K562	blood:	n/a	n/a
22	TEAD4	chr8:103404794-103405442	K562	blood:	n/a	n/a
23	MYC	chr8:103404927-103405258	K562	blood:	n/a	n/a
24	CHD2	chr8:103404927-103405356	K562	blood:	n/a	n/a
25	JUND	chr8:103404876-103405321	K562	blood:	n/a	n/a
26	ZMIZ1	chr8:103404885-103405266	K562	blood:	n/a	n/a
27	GATA2	chr8:103404939-103405277	K562	blood:	n/a	chr8:103405120-103405136 chr8:103405037-103405046 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405123-103405132 chr8:103405123-103405133
28	TAL1	chr8:103404766-103405370	K562	blood:	n/a	chr8:103405037-103405055
29	PML	chr8:103404827-103405390	K562	blood:	n/a	n/a
30	CEBPB	chr8:103404976-103405256	K562	blood:	n/a	n/a
31	NR2F2	chr8:103404658-103405827	K562	blood:	n/a	n/a
32	POLR2A	chr8:103405003-103405303	K562	blood:	n/a	n/a
33	MAZ	chr8:103404924-103405266	K562	blood:	n/a	n/a
34	POLR2A	chr8:103404794-103405343	K562	blood:	n/a	n/a
35	TEAD4	chr8:103404805-103405503	K562	blood:	n/a	n/a
36	RCOR1	chr8:103404879-103405383	K562	blood:	n/a	n/a
37	GATA1	chr8:103403504-103405499	K562	blood:	n/a	chr8:103405120-103405136 chr8:103405037-103405046 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103404769-103404779 chr8:103405125-103405132 chr8:103405123-103405132 chr8:103404813-103404822 chr8:103405123-103405133
38	FAM48A	chr8:103405119-103405259	GM12878	blood:	n/a	n/a
39	EP300	chr8:103404505-103405282	K562	blood:	n/a	n/a
40	TRIM28	chr8:103404784-103405362	K562	blood:	n/a	n/a
41	GATA2	chr8:103404791-103405401	K562	blood:	n/a	chr8:103405120-103405136 chr8:103405037-103405046 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405125-103405132 chr8:103405123-103405132 chr8:103404813-103404822 chr8:103405123-103405133
42	NR2F2	chr8:103404855-103405314	K562	blood:	n/a	n/a
43	STAT5A	chr8:103404840-103405339	K562	blood:	n/a	n/a
44	ARID3A	chr8:103403959-103405542	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103404137..103406751-chr8:103406797..103410088,3	K562	blood:
2	chr8:103404586..103407387-chr8:103414307..103417214,2	MCF-7	breast:
3	chr8:103405057..103410665-chr8:103422251..103425173,5	MCF-7	breast:
4	chr8:103386914..103388455-chr8:103404342..103405852,2	K562	blood:

Variant related genes	Relation type
ENSG00000238533	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10090363	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098587	0.94[ASN][1000 genomes]
rs10099641	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104291	0.88[ASN][1000 genomes]
rs10104672	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112713	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481100	0.94[ASN][1000 genomes]
rs10481101	0.94[ASN][1000 genomes]
rs13267556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421590	0.81[ASN][1000 genomes]
rs2925779	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2978433	0.94[ASN][1000 genomes]
rs3018535	0.81[ASN][1000 genomes]
rs3018543	0.94[ASN][1000 genomes]
rs34265044	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56346553	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58208138	0.81[ASN][1000 genomes]
rs9297323	0.82[AMR][1000 genomes];0.87[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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
4	chr8:103384200-103411600	Weak transcription	Lung	lung
5	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
7	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:103394600-103407200	Weak transcription	Pancreas	Pancrea
10	chr8:103395000-103406800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:103395200-103406800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:103395200-103406800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:103395600-103406800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:103395600-103407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:103395800-103406800	Weak transcription	Aorta	Aorta
16	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
18	chr8:103396000-103405800	Weak transcription	Right Atrium	heart
19	chr8:103396000-103410200	Weak transcription	Brain Germinal Matrix	brain
20	chr8:103396200-103407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:103396200-103407400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:103396200-103408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:103396200-103409600	Weak transcription	Fetal Stomach	stomach
24	chr8:103396800-103407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:103397000-103413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103397200-103406800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:103397200-103406800	Weak transcription	HMEC	breast
28	chr8:103397200-103408000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:103397400-103407000	Weak transcription	Brain Anterior Caudate	brain
30	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:103397800-103406800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:103397800-103408400	Weak transcription	Fetal Brain Female	brain
33	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
34	chr8:103398800-103405600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:103399800-103408200	Weak transcription	Psoas Muscle	Psoas
36	chr8:103400000-103408000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:103400400-103407800	Weak transcription	A549	lung
38	chr8:103400800-103406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:103400800-103414800	Weak transcription	HUVEC	blood vessel
40	chr8:103402000-103406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:103402800-103405800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:103403000-103405400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:103403000-103405600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:103403200-103406800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:103403400-103405800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:103403400-103406800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:103403400-103406800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:103403400-103407200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:103403400-103407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:103403400-103407400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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