Variant report

Variant	rs1451712
Chromosome Location	chr8:96102132-96102133
allele	C/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	RUNX3	chr8:96101681-96103037	GM12878	blood:	n/a	n/a
2	STAT5A	chr8:96101823-96103030	GM12878	blood:	n/a	chr8:96101933-96101941 chr8:96102479-96102487
3	RELA	chr8:96101822-96102791	GM12878	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
4	ATF2	chr8:96101699-96102919	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:96102123-96102555	K562	blood:	n/a	n/a
6	RUNX3	chr8:96101697-96103225	GM12878	blood:	n/a	n/a
7	FOXM1	chr8:96101938-96102868	GM12878	blood:	n/a	n/a
8	MEF2A	chr8:96101907-96102824	GM12878	blood:	n/a	chr8:96102073-96102094 chr8:96102078-96102087 chr8:96102074-96102090 chr8:96102075-96102089 chr8:96102077-96102088 chr8:96102073-96102094 chr8:96102075-96102090
9	BCL3	chr8:96101731-96102628	GM12878	blood:	n/a	chr8:96102445-96102454 chr8:96102051-96102060
10	PML	chr8:96101695-96104710	GM12878	blood:	n/a	chr8:96102328-96102336
11	POLR2A	chr8:96101718-96104035	GM12878	blood:	n/a	n/a
12	STAT1	chr8:96101948-96102440	GM12878	blood:	n/a	n/a
13	RELA	chr8:96101865-96102937	GM18951	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
14	CHD1	chr8:96102013-96102902	GM12878	blood:	n/a	n/a
15	FOXM1	chr8:96101695-96103062	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:96101910-96103184	GM12878	blood:	n/a	n/a
17	CUX1	chr8:96101829-96103085	K562	blood:	n/a	n/a
18	PML	chr8:96101983-96102928	GM12878	blood:	n/a	chr8:96102328-96102336
19	ZBTB7A	chr8:96102117-96102319	K562	blood:	n/a	n/a
20	POLR2A	chr8:96101758-96103926	GM12878	blood:	n/a	n/a
21	RELA	chr8:96101815-96102863	GM18505	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
22	IKZF1	chr8:96101895-96102751	GM12878	blood:	n/a	chr8:96102397-96102405 chr8:96102048-96102056
23	ATF2	chr8:96101850-96102848	GM12878	blood:	n/a	n/a
24	MXI1	chr8:96101767-96102839	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:96101812-96103861	GM12878	blood:	n/a	n/a
26	MTA3	chr8:96101699-96103239	GM12878	blood:	n/a	n/a
27	MTA3	chr8:96101666-96104592	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr8:96101784-96102837	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:96101622-96104629	GM12878	blood:	n/a	n/a
30	EP300	chr8:96101883-96102559	GM12878	blood:	n/a	n/a
31	NR2F2	chr8:96102122-96103139	K562	blood:	n/a	n/a
32	EBF1	chr8:96101795-96102988	GM12878	blood:	n/a	n/a
33	STAT3	chr8:96101921-96102714	GM12878	blood:	n/a	chr8:96101933-96101941 chr8:96102479-96102487
34	RELA	chr8:96101462-96102878	GM12891	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
35	MEF2C	chr8:96101877-96102324	GM12878	blood:	n/a	chr8:96102073-96102094 chr8:96102078-96102087 chr8:96102074-96102090 chr8:96102075-96102089 chr8:96102077-96102088 chr8:96102075-96102090 chr8:96102073-96102094 chr8:96102075-96102090
36	EP300	chr8:96101974-96103110	K562	blood:	n/a	n/a
37	BHLHE40	chr8:96101870-96102713	GM12878	blood:	n/a	n/a
38	NFIC	chr8:96101706-96106155	GM12878	blood:	n/a	n/a
39	JUN	chr8:96101667-96103243	K562	blood:	n/a	chr8:96102779-96102787 chr8:96102780-96102787
40	NFATC1	chr8:96101776-96104594	GM12878	blood:	n/a	n/a
41	MYC	chr8:96102121-96102942	K562	blood:	n/a	n/a
42	CREB1	chr8:96101747-96102756	GM12878	blood:	n/a	n/a
43	RELA	chr8:96101844-96102753	GM19099	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
44	RCOR1	chr8:96101990-96102957	K562	blood:	n/a	n/a
45	CEBPB	chr8:96101918-96103174	GM12878	blood:	n/a	n/a
46	RELA	chr8:96101826-96102665	GM10847	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061
47	STAT5A	chr8:96101747-96103067	GM12878	blood:	n/a	chr8:96101933-96101941 chr8:96102479-96102487
48	EP300	chr8:96101842-96102786	GM12878	blood:	n/a	n/a
49	MAZ	chr8:96101979-96102905	GM12878	blood:	n/a	n/a
50	RELA	chr8:96101848-96102718	GM12892	blood:	n/a	chr8:96102052-96102061 chr8:96102052-96102061

No.	Distal block	Cell Line	Cell type
1	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
2	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
3	chr8:96095732..96098927-chr8:96100479..96105447,7	K562	blood:
4	chr8:96078349..96080804-chr8:96101841..96104257,3	K562	blood:
5	chr8:96037114..96038810-chr8:96100451..96102525,2	K562	blood:
6	chr8:96073662..96075442-chr8:96100722..96102763,2	K562	blood:
7	chr8:96100801..96102864-chr8:96280312..96283160,2	K562	blood:
8	chr8:96100647..96102577-chr8:96280334..96282911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254248	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1000285	0.82[CHB][hapmap]
rs1000286	0.82[CHB][hapmap]
rs10093559	0.82[CHB][hapmap]
rs10096848	0.82[CHB][hapmap]
rs11776488	0.82[CHB][hapmap]
rs11781134	1.00[CHB][hapmap]
rs11781447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11782155	0.82[CHB][hapmap]
rs11784746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12543421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248868	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13251032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13251759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13273307	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13274368	1.00[ASN][1000 genomes]
rs13276227	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1451711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs1946941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946943	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341400	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34901613	0.97[ASN][1000 genomes]
rs4236831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321970	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4323439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4329243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4540384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs4734299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471513	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6987762	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7008347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7011768	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098400-96102400	Weak transcription	Stomach Mucosa	stomach
2	chr8:96098600-96102200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:96098600-96102200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:96098600-96102400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
6	chr8:96098800-96102200	Weak transcription	Thymus	Thymus
7	chr8:96098800-96102400	Weak transcription	Dnd41	blood
8	chr8:96098800-96103800	Weak transcription	HepG2	liver
9	chr8:96100000-96104200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:96100400-96103200	Enhancers	NHEK	skin
11	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:96100400-96113600	Weak transcription	Lung	lung
13	chr8:96100600-96102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:96100600-96102400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:96100600-96103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:96100600-96106800	Weak transcription	Spleen	Spleen
17	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:96100800-96102200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:96100800-96102200	Weak transcription	Fetal Thymus	thymus
20	chr8:96100800-96102400	Weak transcription	HMEC	breast
21	chr8:96100800-96104600	Weak transcription	Placenta	Placenta
22	chr8:96100800-96104800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:96100800-96107600	Weak transcription	Hela-S3	cervix
24	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:96101600-96102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:96101800-96102400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:96101800-96102800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:96101800-96102800	Flanking Active TSS	K562	blood
29	chr8:96101800-96103000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:96101800-96103000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:96101800-96103000	Enhancers	NH-A	brain
32	chr8:96101800-96103000	Enhancers	Osteobl	bone
33	chr8:96101800-96103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:96101800-96103200	Flanking Active TSS	GM12878-XiMat	blood
35	chr8:96101800-96103200	Enhancers	HUVEC	blood vessel
36	chr8:96101800-96103400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:96101800-96104200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:96102000-96102800	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:96102000-96103000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:96102000-96103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:96102000-96103200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:96102000-96103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:96102000-96106600	Enhancers	Primary B cells from cord blood	blood
44	chr8:96102000-96107400	Enhancers	Primary B cells from peripheral blood	blood

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