Variant report

Variant	rs718348
Chromosome Location	chr8:68256888-68256889
allele	A/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	RAD21	chr8:68255475-68256994	IMR90	lung:	n/a	chr8:68255645-68255657
2	MYC	chr8:68254979-68257040	NB4	blood:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
3	MYC	chr8:68256756-68256962	MCF10A-Er-Src	breast:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
4	MAX	chr8:68254900-68256902	A549	lung:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
5	POLR2A	chr8:68256781-68256898	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr8:68254468-68257241	K562	blood:	n/a	n/a
7	MAX	chr8:68255122-68257020	NB4	blood:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
8	ZNF274	chr8:68256315-68257165	K562	blood:	n/a	n/a
9	MYC	chr8:68255161-68257021	K562	blood:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
10	BHLHE40	chr8:68256639-68256955	HepG2	liver:	n/a	n/a
11	USF2	chr8:68256455-68256926	HepG2	liver:	n/a	chr8:68256769-68256780
12	MYC	chr8:68256674-68257053	MCF10A-Er-Src	breast:	n/a	chr8:68256778-68256788 chr8:68256769-68256780
13	CHD1	chr8:68254120-68257187	IMR90	lung:	n/a	chr8:68255675-68255685 chr8:68255348-68255358
14	BHLHE40	chr8:68255647-68256934	K562	blood:	n/a	n/a
15	USF1	chr8:68256492-68256939	A549	lung:	n/a	chr8:68256769-68256780
16	USF1	chr8:68256450-68256945	A549	lung:	n/a	chr8:68256769-68256780
17	MXI1	chr8:68254247-68257157	IMR90	lung:	n/a	n/a
18	FOXA1	chr8:68256664-68256991	T-47D	breast:	n/a	chr8:68256955-68256967
19	POLR2A	chr8:68254767-68257064	IMR90	lung:	n/a	n/a
20	MXI1	chr8:68254089-68257254	SK-N-SH	brain:	n/a	n/a
21	USF1	chr8:68256638-68256972	H1-hESC	embryonic stem cell:	n/a	chr8:68256769-68256780
22	EP300	chr8:68255644-68256933	K562	blood:	n/a	chr8:68256573-68256587 chr8:68255723-68255732 chr8:68256784-68256794
23	FOXA1	chr8:68256539-68256991	HepG2	liver:	n/a	chr8:68256955-68256967
24	USF1	chr8:68256627-68256971	K562	blood:	n/a	chr8:68256769-68256780
25	MAZ	chr8:68255150-68257155	GM12878	blood:	n/a	chr8:68256769-68256780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68256543..68259078-chr8:68260057..68264184,4	MCF-7	breast:
2	chr8:68182907..68185887-chr8:68256451..68259285,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSPP1-1	chr8:68255914-68257072	NONHSAT127082
2	lnc-CSPP1-1	chr8:68256210-68257322	ENSG00000271966.1

Variant related genes	Relation type
ARFGEF1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10105795	0.89[ASN][1000 genomes]
rs10113752	0.84[ASN][1000 genomes]
rs10504401	0.80[ASN][1000 genomes]
rs10957384	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774715	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11779287	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11986169	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995348	0.90[ASN][1000 genomes]
rs12674848	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12675528	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12678025	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12678865	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679614	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12681292	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12682412	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13255070	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13264289	0.91[ASN][1000 genomes]
rs13267015	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270606	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13275593	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13275826	0.83[AMR][1000 genomes]
rs13277736	0.85[ASN][1000 genomes]
rs1544986	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1821026	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2008936	0.82[CEU][hapmap];0.83[ASN][1000 genomes]
rs2116130	0.99[ASN][1000 genomes]
rs28640047	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34132973	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35480743	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35754047	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35904049	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56186469	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60196076	0.88[ASN][1000 genomes]
rs6472297	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68086555	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6987724	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6992604	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6993324	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002191	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7002622	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs7013561	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72654960	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464980	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7812777	0.95[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812887	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7813810	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7817641	0.82[EUR][1000 genomes]
rs7818520	0.89[ASN][1000 genomes]
rs7820370	0.99[ASN][1000 genomes]
rs7822637	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823436	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830183	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7841468	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7841756	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844125	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891589	0.82[CEU][hapmap]

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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68253200-68257400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:68254000-68257200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:68254000-68257200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:68254000-68258400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:68254200-68257000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:68254200-68257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:68254200-68257200	Active TSS	Muscle Satellite Cultured Cells	--
8	chr8:68254200-68257200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:68254200-68257600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:68254200-68257800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:68254400-68257000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:68254400-68257000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:68254400-68257000	Active TSS	Colonic Mucosa	Colon
14	chr8:68254400-68257000	Active TSS	Fetal Muscle Trunk	muscle
15	chr8:68254400-68257200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:68254400-68257200	Active TSS	Fetal Brain Female	brain
17	chr8:68254400-68257200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:68254400-68257600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:68254600-68257000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:68254600-68257000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:68254600-68257000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:68254600-68257000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:68254600-68257000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:68254600-68257000	Active TSS	Fetal Intestine Large	intestine
25	chr8:68254600-68257000	Active TSS	Fetal Stomach	stomach
26	chr8:68254600-68257200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:68254600-68257200	Active TSS	HSMM	muscle
28	chr8:68254600-68257200	Active TSS	HSMMtube	muscle
29	chr8:68254600-68257200	Active TSS	NHDF-Ad	bronchial
30	chr8:68254600-68257200	Active TSS	NHLF	lung
31	chr8:68254600-68257400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:68254800-68257000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:68254800-68257000	Active TSS	Brain Cingulate Gyrus	brain
34	chr8:68254800-68257000	Active TSS	Brain Germinal Matrix	brain
35	chr8:68254800-68257000	Active TSS	Fetal Kidney	kidney
36	chr8:68254800-68257000	Active TSS	Placenta	Placenta
37	chr8:68254800-68257200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:68254800-68257200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:68254800-68257200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:68254800-68257200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:68254800-68257200	Active TSS	Fetal Lung	lung
42	chr8:68254800-68257800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:68255000-68257000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:68255000-68257000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr8:68255000-68257000	Active TSS	HMEC	breast
46	chr8:68255000-68257200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:68255000-68257200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:68255000-68257200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:68255000-68257200	Active TSS	K562	blood
50	chr8:68255200-68257000	Active TSS	Breast Myoepithelial Primary Cells	Breast

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