Variant report

Variant	rs13259305
Chromosome Location	chr8:47829991-47829992
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	chr8:47829305-47830411	GM12878	blood:	n/a	n/a
2	RELA	chr8:47829215-47830361	GM12891	blood:	n/a	n/a
3	POLR2A	chr8:47829335-47830601	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:47829954-47830457	GM12878	blood:	n/a	n/a
5	CTCF	chr8:47829920-47830070	GM12872	blood:	n/a	n/a
6	POLR2A	chr8:47829384-47830188	GM19193	blood:	n/a	n/a
7	POLR2A	chr8:47829371-47830141	NB4	blood:	n/a	n/a
8	ELF1	chr8:47829279-47830133	GM12878	blood:	n/a	chr8:47829378-47829391
9	POLR2A	chr8:47829323-47830650	GM12892	blood:	n/a	n/a
10	CHD2	chr8:47829320-47830021	GM12878	blood:	n/a	chr8:47829470-47829480
11	POLR2A	chr8:47829353-47830062	GM12878	blood:	n/a	n/a
12	EBF1	chr8:47829216-47830313	GM12878	blood:	n/a	chr8:47829531-47829542
13	POLR2A	chr8:47829278-47830308	GM18951	blood:	n/a	n/a
14	POLR2A	chr8:47829386-47830783	Raji	blood:	n/a	n/a
15	RELA	chr8:47829227-47830300	GM12892	blood:	n/a	n/a
16	RUNX3	chr8:47829957-47830330	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:47829327-47830477	GM12892	blood:	n/a	n/a
18	POLR2A	chr8:47829287-47830302	GM19099	blood:	n/a	n/a
19	POLR2A	chr8:47829385-47830315	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47828029..47830858-chr8:47832591..47835013,2	MCF-7	breast:
2	chr8:47827930..47830534-chr8:47872091..47874048,2	K562	blood:
3	chr8:47827930..47831126-chr8:47870805..47874048,3	K562	blood:

Variant related genes	Relation type
ENSG00000253745	TF binding region
ENSG00000253745	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11777999	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13255415	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4872963	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4872964	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4872965	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985895	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs867895	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs867896	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916550	chr8:46942962-47863337	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1016829	chr8:47083849-47982647	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv465669	chr8:47105157-47947701	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv611241	chr8:47105157-47947701	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv948803	chr8:47190621-47939976	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv869142	chr8:47456485-47982673	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv1026167	chr8:47751577-47952612	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv1033221	chr8:47758737-47840781	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1018140	chr8:47771211-47835967	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1015610	chr8:47774951-47835967	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv971232	chr8:47805371-47832543	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	nsv971644	chr8:47826054-47842875	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47828000-47834200	Enhancers	Spleen	Spleen
2	chr8:47828800-47830400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:47829000-47830400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr8:47829200-47830000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:47829200-47830000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr8:47829200-47830000	Active TSS	Primary hematopoietic stem cells	blood
7	chr8:47829200-47830000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr8:47829200-47830000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr8:47829200-47830000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:47829200-47830000	Active TSS	Brain Anterior Caudate	brain
11	chr8:47829200-47830000	Active TSS	Brain Hippocampus Middle	brain
12	chr8:47829200-47830000	Enhancers	Dnd41	blood
13	chr8:47829200-47830200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:47829200-47830200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:47829200-47830200	Active TSS	Colon Smooth Muscle	Colon
16	chr8:47829200-47830200	Active TSS	Right Atrium	heart
17	chr8:47829200-47830400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr8:47829400-47830000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:47829400-47830000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:47829400-47830000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:47829400-47830000	Active TSS	Pancreas	Pancrea
22	chr8:47829400-47830000	Active TSS	K562	blood
23	chr8:47829400-47830000	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:47829400-47830000	Active TSS	Osteobl	bone
25	chr8:47829400-47830200	Active TSS	Left Ventricle	heart
26	chr8:47829400-47830400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:47829600-47830000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:47829600-47830000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:47829600-47830000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:47829600-47830000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:47829600-47830000	Flanking Active TSS	Colonic Mucosa	Colon
32	chr8:47829600-47830000	Flanking Active TSS	Esophagus	oesophagus
33	chr8:47829600-47830000	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr8:47829600-47830000	Enhancers	Gastric	stomach
35	chr8:47829600-47830000	Active TSS	Psoas Muscle	Psoas
36	chr8:47829600-47830000	Active TSS	A549	lung
37	chr8:47829600-47830200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:47829600-47830400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:47829600-47830600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:47829600-47830600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr8:47829800-47830000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr8:47829800-47830000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr8:47829800-47830000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr8:47829800-47830000	Flanking Active TSS	Right Ventricle	heart
45	chr8:47829800-47830000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr8:47829800-47830200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:47829800-47830200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:47829800-47830200	Flanking Active TSS	GM12878-XiMat	blood
49	chr8:47829800-47830400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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