Variant report

Variant	rs3019280
Chromosome Location	chr8:95450032-95450033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:95448487-95450057	K562	blood:	n/a	n/a
2	GATA3	chr8:95449962-95450101	SH-SY5Y	brain:	n/a	n/a
3	KAP1	chr8:95448550-95450519	U2OS	brain:	n/a	n/a
4	POLR2A	chr8:95449865-95450037	ProgFib	skin:	n/a	n/a
5	REST	chr8:95448560-95450228	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr8:95448535-95450041	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95449447..95452097-chr8:95455615..95457152,2	K562	blood:
2	chr8:95448512..95450630-chr8:95487309..95488900,2	K562	blood:
3	chr8:95449237..95450737-chr8:95564769..95566376,2	K562	blood:
4	chr8:95448469..95450952-chr8:95730677..95732921,2	K562	blood:
5	chr8:95446159..95448906-chr8:95449268..95451697,2	K562	blood:

No data

Variant related genes	Relation type
FSBP	TF binding region
ENSG00000253704	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10087254	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10087503	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095298	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102233	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs10102496	0.80[ASN][1000 genomes]
rs1011249	0.86[ASN][1000 genomes]
rs10112606	0.80[ASN][1000 genomes]
rs10216902	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs10464877	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504936	0.95[CHB][hapmap]
rs10808669	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956913	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956914	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12375355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545262	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs12549544	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12674614	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675415	0.91[ASN][1000 genomes]
rs12676373	0.86[ASN][1000 genomes]
rs12680029	0.82[ASN][1000 genomes]
rs12681366	0.91[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs12681504	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12682038	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12682524	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13248829	0.82[EUR][1000 genomes]
rs13280849	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs13281619	0.95[CHB][hapmap]
rs1372048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1561648	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs1598713	0.95[CHB][hapmap]
rs16916760	0.87[ASN][1000 genomes]
rs16916788	0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[TSI][hapmap]
rs16916802	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1872889	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2011246	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2043987	0.84[ASN][1000 genomes]
rs2043988	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046664	0.86[CHB][hapmap]
rs2165405	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171440	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197004	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291439	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs2381793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381886	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641679	0.82[ASN][1000 genomes]
rs2919655	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919656	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919657	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919658	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919659	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919660	0.85[ASN][1000 genomes]
rs2919662	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs2919664	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919667	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919668	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919670	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919672	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919673	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2921386	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921389	0.85[ASN][1000 genomes]
rs2930956	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930958	0.95[CHB][hapmap];0.91[CHD][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930961	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930962	0.87[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930963	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930968	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs2930970	0.85[ASN][1000 genomes]
rs2930971	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2931631	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2931633	0.86[ASN][1000 genomes]
rs2960121	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2960122	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019145	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019146	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs3019147	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019150	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019154	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019155	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019156	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019277	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019279	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019282	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019284	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35918414	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735288	0.95[CHB][hapmap]
rs4735291	0.95[ASN][1000 genomes]
rs4735292	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs4735293	0.90[EUR][1000 genomes]
rs55963151	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980687	0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs6999103	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999976	0.99[ASN][1000 genomes]
rs72672679	0.91[ASN][1000 genomes]
rs72674819	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs752460	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs9297939	0.82[EUR][1000 genomes];0.99[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891202	chr8:95445660-95456986	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95445600-95455000	Weak transcription	Dnd41	blood
4	chr8:95448000-95450600	Enhancers	Fetal Heart	heart
5	chr8:95448600-95450600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:95448800-95450600	Enhancers	Fetal Lung	lung
7	chr8:95448800-95450800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:95448800-95450800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:95448800-95457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:95449000-95451000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:95449000-95452800	Weak transcription	Pancreas	Pancrea
12	chr8:95449000-95452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:95449000-95455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:95449200-95451800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95449400-95450200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:95449400-95450400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:95449400-95450600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:95449400-95450600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:95449400-95451000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:95449600-95450200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:95449600-95450200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:95449600-95450200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:95449600-95450200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:95449600-95450200	Enhancers	HUVEC	blood vessel
27	chr8:95449600-95450600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:95449600-95450800	Flanking Active TSS	GM12878-XiMat	blood
29	chr8:95449600-95450800	Enhancers	HepG2	liver
30	chr8:95449600-95451000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:95449600-95451000	Enhancers	K562	blood
32	chr8:95449600-95451200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:95449600-95451800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:95449600-95452800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:95449600-95453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:95449600-95453000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:95449600-95454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:95449600-95455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:95449800-95450200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:95449800-95450200	Enhancers	Brain Angular Gyrus	brain
41	chr8:95449800-95450200	Enhancers	NHEK	skin
42	chr8:95449800-95450200	Enhancers	Osteobl	bone
43	chr8:95449800-95450400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:95449800-95450400	Active TSS	Brain Anterior Caudate	brain
45	chr8:95449800-95450400	Enhancers	HMEC	breast
46	chr8:95449800-95450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:95449800-95450600	Enhancers	Hela-S3	cervix
48	chr8:95449800-95451000	Weak transcription	Small Intestine	intestine
49	chr8:95449800-95451200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:95449800-95451200	Enhancers	Brain Germinal Matrix	brain

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