Variant report

Variant	rs13312853
Chromosome Location	chr8:90995391-90995392
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	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
2	TBP	chr8:90994830-90997193	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:90993336-90997456	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr8:90995383-90997338	MCF-7	breast:	n/a	chr8:90997227-90997237 chr8:90997222-90997238 chr8:90995983-90995996 chr8:90997225-90997235 chr8:90995994-90996006 chr8:90997227-90997234
5	CHD1	chr8:90995329-90997044	GM12878	blood:	n/a	chr8:90996506-90996516
6	MXI1	chr8:90993378-90997577	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr8:90993266-90997261	GM18505	blood:	n/a	n/a
8	POLR2A	chr8:90995371-90997125	GM12878	blood:	n/a	n/a
9	CTCF	chr8:90995075-90997592	A549	lung:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
10	IRF1	chr8:90994815-90997167	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310
11	TBL1XR1	chr8:90995377-90997184	K562	blood:	n/a	n/a
12	GATA1	chr8:90995382-90997382	PBDE	blood:	n/a	chr8:90997227-90997237 chr8:90997222-90997238 chr8:90995983-90995996 chr8:90997225-90997235 chr8:90995994-90996006 chr8:90997227-90997234

No.	Distal block	Cell Line	Cell type
1	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
2	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
3	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
4	chr8:90953083..90955250-chr8:90994003..90995794,2	K562	blood:
5	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
6	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
7	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
8	chr8:90889480..90891758-chr8:90994219..90995933,2	MCF-7	breast:
9	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
10	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
11	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
12	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
13	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
14	chr8:90769588..90771314-chr8:90995090..90996692,2	K562	blood:
15	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
16	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13312883	0.83[AMR][1000 genomes]
rs13312894	0.83[AMR][1000 genomes]
rs13312897	0.83[AMR][1000 genomes]
rs13312905	0.83[AMR][1000 genomes]
rs13312925	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312937	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312951	0.83[AMR][1000 genomes]
rs16902376	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16902465	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16902840	0.83[AMR][1000 genomes]
rs1805814	0.83[AMR][1000 genomes]
rs1805819	0.83[AMR][1000 genomes]
rs1805821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805827	0.83[AMR][1000 genomes]
rs1805828	0.83[AMR][1000 genomes]
rs1805839	0.84[YRI][hapmap]
rs1805843	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805845	1.00[AMR][1000 genomes]
rs1805887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805910	0.83[AMR][1000 genomes]
rs7017507	0.83[AMR][1000 genomes]
rs73308410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308442	0.83[AMR][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	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
2	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
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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	16 gene(s)	inside rSNPs	diseases
4	esv2752578	chr8:90990091-90995971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 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	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:90971800-90995600	Weak transcription	Right Ventricle	heart
3	chr8:90975600-90995800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:90976200-90995800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:90976400-90995400	Weak transcription	Thymus	Thymus
6	chr8:90976400-90995600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:90976400-90995800	Weak transcription	Esophagus	oesophagus
8	chr8:90980800-90995600	Weak transcription	Ovary	ovary
9	chr8:90983800-90995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:90987000-90996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:90987200-90996000	Weak transcription	Spleen	Spleen
12	chr8:90989000-90995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:90989000-90995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:90989000-90996000	Weak transcription	Gastric	stomach
15	chr8:90989600-90995600	Weak transcription	Left Ventricle	heart
16	chr8:90990200-90995400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:90990200-90995400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:90990200-90995600	Weak transcription	Lung	lung
19	chr8:90990200-90995800	Weak transcription	Pancreas	Pancrea
20	chr8:90991400-90996200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
22	chr8:90992200-90995600	Weak transcription	Placenta	Placenta
23	chr8:90992800-90995400	Weak transcription	Fetal Thymus	thymus
24	chr8:90993000-90995400	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:90993000-90996200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:90993200-90995600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr8:90993200-90995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:90993200-90995800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:90993400-90995400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:90993400-90995400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:90993400-90995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:90993600-90995400	Enhancers	Brain Hippocampus Middle	brain
35	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon
36	chr8:90993800-90995400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:90993800-90995400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:90993800-90995400	Enhancers	Brain Germinal Matrix	brain
39	chr8:90993800-90995400	Enhancers	Fetal Heart	heart
40	chr8:90993800-90995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:90993800-90995600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:90993800-90995600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:90993800-90995800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:90993800-90995800	Flanking Active TSS	HUVEC	blood vessel
45	chr8:90993800-90996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:90993800-90997200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:90994000-90995600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:90994000-90997000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:90994000-90997000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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