Variant report

Variant	rs12541117
Chromosome Location	chr8:95453892-95453893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95453135-95454192	GM12892	blood:	n/a	n/a
2	CUX1	chr8:95453795-95454221	GM12878	blood:	n/a	n/a
3	EBF1	chr8:95453788-95454082	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:95452642-95454138	GM12892	blood:	n/a	n/a
5	POLR2A	chr8:95452834-95453985	HepG2	liver:	n/a	n/a
6	TBP	chr8:95452615-95454143	GM12878	blood:	n/a	n/a
7	FOXM1	chr8:95452614-95454032	GM12878	blood:	n/a	n/a
8	CHD1	chr8:95452657-95454151	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:95453882-95454046	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:95453865-95454268	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:95452657-95454240	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr8:95453848-95454038	GM12878	blood:	n/a	n/a
13	PBX3	chr8:95453872-95454118	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:95453274-95454067	GM12878	blood:	n/a	n/a
15	WRNIP1	chr8:95452821-95454068	GM12878	blood:	n/a	n/a
16	MXI1	chr8:95453804-95453911	GM12878	blood:	n/a	n/a
17	EP300	chr8:95452698-95454052	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:95452646-95454247	GM12892	blood:	n/a	n/a
19	RFX5	chr8:95453877-95454084	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:95452626-95454141	GM12878	blood:	n/a	n/a
21	MAZ	chr8:95453835-95454127	GM12878	blood:	n/a	n/a
22	MAX	chr8:95453805-95453987	GM12878	blood:	n/a	n/a
23	ELK1	chr8:95453841-95453943	GM12878	blood:	n/a	n/a
24	HEY1	chr8:95452820-95454094	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:95452685-95454132	GM12892	blood:	n/a	n/a
26	POLR2A	chr8:95452681-95454101	GM12878	blood:	n/a	n/a
27	EBF1	chr8:95452648-95454191	GM12878	blood:	n/a	n/a
28	RCOR1	chr8:95453724-95454348	GM12878	blood:	n/a	n/a
29	CHD2	chr8:95452740-95454065	GM12878	blood:	n/a	n/a
30	MTA3	chr8:95452499-95454585	GM12878	blood:	n/a	n/a
31	YY1	chr8:95453751-95454109	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:95452659-95454427	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95447931..95449885-chr8:95451720..95455035,3	K562	blood:
2	chr8:95447931..95449655-chr8:95451874..95454373,2	K562	blood:

No data

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10504937	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12548615	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916769	1.00[ASN][1000 genomes]
rs16916798	1.00[ASN][1000 genomes]
rs2028429	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046663	1.00[ASN][1000 genomes]
rs2381828	1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136403	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136408	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734277	1.00[ASN][1000 genomes]
rs4735290	1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59233901	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654408	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991746	1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271959	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7845278	0.93[EUR][1000 genomes];1.00[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:70 , 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	chr8:95449000-95455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:95449600-95454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:95449600-95455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:95449800-95454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:95449800-95479600	Weak transcription	NH-A	brain
13	chr8:95450000-95454000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:95450000-95454000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:95450000-95455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:95450000-95455400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:95450000-95458800	Weak transcription	Fetal Stomach	stomach
18	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:95450200-95455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:95450200-95464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:95450200-95480000	Weak transcription	NHEK	skin
23	chr8:95450400-95460600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:95450400-95479800	Weak transcription	HMEC	breast
25	chr8:95450600-95455200	Weak transcription	Fetal Brain Male	brain
26	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:95450800-95454200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:95451400-95457200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:95451400-95460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
32	chr8:95452200-95454200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:95452400-95455800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:95452600-95454000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr8:95452600-95454000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:95452800-95454000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:95452800-95454000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:95452800-95454000	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:95452800-95454000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:95452800-95454200	Enhancers	Fetal Intestine Large	intestine
41	chr8:95452800-95456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:95453000-95454000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:95453000-95454000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:95453000-95454000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr8:95453000-95454200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:95453000-95455200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:95453000-95456800	Weak transcription	K562	blood
48	chr8:95453000-95457000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
50	chr8:95453000-95476400	Weak transcription	Thymus	Thymus

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