Variant report

Variant	rs2921388
Chromosome Location	chr8:95452759-95452760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr8:95452583-95453427	GM12878	blood:	n/a	n/a
2	MXI1	chr8:95452720-95453405	GM12878	blood:	n/a	n/a
3	POU2F2	chr8:95452722-95453702	GM12878	blood:	n/a	n/a
4	ZNF143	chr8:95452741-95452975	GM12878	blood:	n/a	n/a
5	EP300	chr8:95452723-95453357	GM12878	blood:	n/a	n/a
6	BCL11A	chr8:95452736-95453536	GM12878	blood:	n/a	n/a
7	MTA3	chr8:95452661-95453423	GM12878	blood:	n/a	n/a
8	PAX5	chr8:95452689-95453618	GM12878	blood:	n/a	n/a
9	MAZ	chr8:95452746-95453421	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:95452636-95453482	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:95452642-95454138	GM12892	blood:	n/a	n/a
12	CEBPB	chr8:95452555-95453671	GM12878	blood:	n/a	n/a
13	RUNX3	chr8:95452648-95453717	GM12878	blood:	n/a	n/a
14	TBP	chr8:95452615-95454143	GM12878	blood:	n/a	n/a
15	IRF4	chr8:95452678-95453532	GM12878	blood:	n/a	n/a
16	FOXM1	chr8:95452614-95454032	GM12878	blood:	n/a	n/a
17	PML	chr8:95452758-95453011	GM12878	blood:	n/a	n/a
18	TCF12	chr8:95452687-95453849	A549	lung:	n/a	n/a
19	SP1	chr8:95452695-95453523	A549	lung:	n/a	n/a
20	EGR1	chr8:95452752-95453019	K562	blood:	n/a	n/a
21	CHD1	chr8:95452657-95454151	GM12878	blood:	n/a	n/a
22	ZNF384	chr8:95452702-95453179	GM12878	blood:	n/a	n/a
23	SPI1	chr8:95452727-95453511	GM12891	blood:	n/a	n/a
24	ATF2	chr8:95452576-95453135	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:95452657-95454240	GM12878	blood:	n/a	n/a
26	PML	chr8:95452604-95453300	GM12878	blood:	n/a	n/a
27	FOXM1	chr8:95452649-95453791	GM12878	blood:	n/a	n/a
28	MEF2A	chr8:95452619-95453352	GM12878	blood:	n/a	n/a
29	SP1	chr8:95452754-95453526	GM12878	blood:	n/a	n/a
30	EP300	chr8:95452698-95454052	GM12878	blood:	n/a	n/a
31	SP1	chr8:95452682-95453440	A549	lung:	n/a	n/a
32	RCOR1	chr8:95452630-95453405	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:95452646-95454247	GM12892	blood:	n/a	n/a
34	MAX	chr8:95452709-95452946	GM12878	blood:	n/a	n/a
35	IRF4	chr8:95452662-95453618	GM12878	blood:	n/a	n/a
36	NFIC	chr8:95452621-95453843	GM12878	blood:	n/a	n/a
37	BHLHE40	chr8:95452655-95453538	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr8:95452713-95453417	GM12878	blood:	n/a	n/a
39	BATF	chr8:95452687-95453034	GM12878	blood:	n/a	n/a
40	RCOR1	chr8:95452741-95452941	K562	blood:	n/a	n/a
41	POLR2A	chr8:95452626-95454141	GM12878	blood:	n/a	n/a
42	SP1	chr8:95452613-95453049	GM12878	blood:	n/a	n/a
43	IKZF1	chr8:95452726-95453783	GM12878	blood:	n/a	n/a
44	NFIC	chr8:95452549-95453709	GM12878	blood:	n/a	n/a
45	EP300	chr8:95452716-95453580	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:95452685-95454132	GM12892	blood:	n/a	n/a
47	POLR2A	chr8:95452681-95454101	GM12878	blood:	n/a	n/a
48	STAT5A	chr8:95452629-95453427	GM12878	blood:	n/a	n/a
49	EBF1	chr8:95452648-95454191	GM12878	blood:	n/a	n/a
50	STAT3	chr8:95452653-95453197	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95447931..95449885-chr8:95451720..95455035,3	K562	blood:
2	chr8:95447931..95449655-chr8:95451874..95454373,2	K562	blood:
3	chr8:95451952..95453657-chr8:95456672..95458632,2	MCF-7	breast:

No data

Variant related genes	Relation type
FSBP	TF binding region
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1011249	0.84[EUR][1000 genomes]
rs1379246	0.87[ASN][1000 genomes]
rs1561648	0.83[EUR][1000 genomes]
rs1580498	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1992371	0.82[EUR][1000 genomes]
rs2043987	0.83[EUR][1000 genomes]
rs2046665	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2046666	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246066	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445721	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450558	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450572	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450578	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2470718	0.82[ASN][1000 genomes]
rs2470728	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470731	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470732	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470735	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470739	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470740	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470742	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470746	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515098	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515099	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2515100	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2515153	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515154	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515155	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515156	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515157	0.82[AMR][1000 genomes]
rs2515161	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515165	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2919654	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919660	0.83[EUR][1000 genomes]
rs2919662	0.83[EUR][1000 genomes]
rs2919663	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919665	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919666	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919672	0.85[EUR][1000 genomes]
rs2919673	0.85[EUR][1000 genomes]
rs2921385	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2921387	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2921389	0.83[EUR][1000 genomes]
rs2930958	0.85[EUR][1000 genomes]
rs2930959	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930962	0.85[EUR][1000 genomes]
rs2930967	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930968	0.83[EUR][1000 genomes]
rs2930969	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2930970	0.83[EUR][1000 genomes]
rs3019154	0.85[EUR][1000 genomes]
rs3019279	0.85[EUR][1000 genomes]
rs3098703	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098725	0.81[ASN][1000 genomes]
rs3099397	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099398	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3099401	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099403	0.81[ASN][1000 genomes]
rs3099404	0.80[ASN][1000 genomes]
rs3099406	0.81[ASN][1000 genomes]
rs3102853	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133635	0.81[ASN][1000 genomes]
rs71504369	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs935052	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][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:75 , 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	chr8:95448800-95457200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:95449000-95452800	Weak transcription	Pancreas	Pancrea
6	chr8:95449000-95452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:95449000-95455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:95449600-95452800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:95449600-95453000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:95449600-95453000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:95449600-95454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95449600-95455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:95449800-95452800	Weak transcription	Primary B cells from cord blood	blood
16	chr8:95449800-95452800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:95449800-95452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:95449800-95452800	Weak transcription	Liver	Liver
19	chr8:95449800-95452800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:95449800-95453400	Weak transcription	Fetal Thymus	thymus
21	chr8:95449800-95454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:95449800-95479600	Weak transcription	NH-A	brain
24	chr8:95450000-95452800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:95450000-95452800	Weak transcription	Fetal Intestine Large	intestine
26	chr8:95450000-95454000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:95450000-95454000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95450000-95455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:95450000-95455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:95450000-95458800	Weak transcription	Fetal Stomach	stomach
31	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:95450200-95455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:95450200-95464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:95450200-95480000	Weak transcription	NHEK	skin
36	chr8:95450400-95452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:95450400-95460600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:95450400-95479800	Weak transcription	HMEC	breast
39	chr8:95450600-95452800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:95450600-95452800	Weak transcription	Fetal Lung	lung
41	chr8:95450600-95453800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:95450600-95455200	Weak transcription	Fetal Brain Male	brain
43	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:95450800-95454200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:95451000-95453400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:95451200-95452800	Weak transcription	Brain Germinal Matrix	brain
48	chr8:95451200-95453200	Enhancers	Fetal Intestine Small	intestine
49	chr8:95451200-95453400	Enhancers	Stomach Mucosa	stomach
50	chr8:95451400-95452800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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