Variant report

Variant	rs16900568
Chromosome Location	chr8:126365542-126365543
allele	G/T
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	SMC3	chr8:126364985-126365642	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr8:126364944-126365542	GM12878	blood:	n/a	n/a
3	RUNX3	chr8:126364894-126365547	GM12878	blood:	n/a	n/a
4	FOXM1	chr8:126364859-126365548	GM12878	blood:	n/a	n/a
5	CHD1	chr8:126365006-126365650	GM12878	blood:	n/a	n/a
6	ATF2	chr8:126364921-126365574	GM12878	blood:	n/a	n/a
7	RCOR1	chr8:126365023-126365674	GM12878	blood:	n/a	n/a
8	MEF2A	chr8:126364888-126365607	GM12878	blood:	n/a	chr8:126365355-126365370 chr8:126365095-126365106 chr8:126365358-126365367 chr8:126365089-126365110 chr8:126365355-126365371 chr8:126365158-126365179 chr8:126365026-126365043 chr8:126365356-126365370 chr8:126365351-126365372 chr8:126365358-126365369
9	SPI1	chr8:126364744-126365826	HL-60	blood:	n/a	chr8:126365335-126365348 chr8:126365338-126365345
10	CREB1	chr8:126364942-126365573	GM12878	blood:	n/a	n/a
11	CHD2	chr8:126364980-126365592	GM12878	blood:	n/a	n/a
12	ATF2	chr8:126364856-126365602	GM12878	blood:	n/a	n/a
13	PML	chr8:126364945-126365662	GM12878	blood:	n/a	n/a
14	BCLAF1	chr8:126364913-126365556	GM12878	blood:	n/a	n/a
15	STAT3	chr8:126365178-126365594	GM12878	blood:	n/a	n/a
16	RUNX3	chr8:126364852-126365612	GM12878	blood:	n/a	n/a
17	NFIC	chr8:126364838-126365667	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126364279..126366774-chr8:126441519..126443574,2	MCF-7	breast:
2	chr8:126356437..126358759-chr8:126364213..126366728,2	K562	blood:
3	chr8:126360008..126362836-chr8:126364930..126366678,2	K562	blood:
4	chr8:126364442..126366316-chr8:126435893..126438793,2	K562	blood:
5	chr8:126355313..126358836-chr8:126365344..126367404,3	MCF-7	breast:
6	chr8:126359782..126362737-chr8:126363798..126365592,2	MCF-7	breast:
7	chr8:126363835..126365851-chr8:126440105..126442878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254431	TF binding region
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12541675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545844	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549614	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893118	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900538	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900559	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385094	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs28895930	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309384	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812467	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs4871579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871581	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808842	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913855	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989594	1.00[ASW][hapmap]
rs6994510	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015929	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720592	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720595	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72720596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722605	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722614	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722617	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
4	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:126348800-126369800	Weak transcription	Gastric	stomach
6	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:126354800-126369000	Weak transcription	Ovary	ovary
9	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
11	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
16	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
18	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
19	chr8:126355200-126369400	Weak transcription	K562	blood
20	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:126355200-126373000	Weak transcription	NH-A	brain
22	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:126355200-126374800	Weak transcription	HMEC	breast
24	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:126355400-126366800	Weak transcription	HepG2	liver
26	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:126355600-126369200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:126355600-126369400	Weak transcription	Adipose Nuclei	Adipose
29	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:126355600-126374400	Weak transcription	NHLF	lung
31	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
32	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
33	chr8:126355800-126369400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:126356000-126370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:126356800-126372000	Weak transcription	Liver	Liver
36	chr8:126358000-126369400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:126358200-126369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:126358800-126369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:126359600-126371800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:126359800-126369400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:126359800-126369400	Weak transcription	Fetal Lung	lung
44	chr8:126360200-126369000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:126360400-126370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:126360600-126369400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:126361400-126369000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:126361400-126372000	Weak transcription	Fetal Kidney	kidney
49	chr8:126361600-126369400	Weak transcription	Dnd41	blood
50	chr8:126361800-126371600	Weak transcription	Fetal Intestine Small	intestine

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