Variant report

Variant	rs693111
Chromosome Location	chr8:8640164-8640165
allele	A/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	FOSL2	chr8:8639991-8640245	HepG2	liver:	n/a	n/a
2	MAX	chr8:8639273-8640394	A549	lung:	n/a	chr8:8639494-8639509
3	POLR2A	chr8:8639368-8640277	K562	blood:	n/a	n/a
4	BCL3	chr8:8639320-8640346	A549	lung:	n/a	n/a
5	POLR2A	chr8:8639795-8640229	A549	lung:	n/a	n/a
6	ATF3	chr8:8639637-8640217	A549	lung:	n/a	n/a
7	POLR2A	chr8:8640023-8640192	H1-hESC	embryonic stem cell:	n/a	n/a
8	NR2F2	chr8:8639955-8640273	K562	blood:	n/a	n/a
9	POLR2A	chr8:8639762-8640197	A549	lung:	n/a	n/a
10	NR2F2	chr8:8639956-8640628	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:8639717-8640267	A549	lung:	n/a	n/a
12	E2F6	chr8:8639356-8640185	A549	lung:	n/a	n/a
13	POLR2A	chr8:8639983-8640186	A549	lung:	n/a	n/a
14	TCF12	chr8:8639344-8640343	A549	lung:	n/a	n/a
15	MAX	chr8:8639288-8640346	A549	lung:	n/a	chr8:8639494-8639509

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8637079..8641758-chr8:8747812..8752273,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254367	TF binding region
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10903311	0.98[ASN][1000 genomes]
rs1612418	0.91[ASN][1000 genomes]
rs1613203	0.91[ASN][1000 genomes]
rs1703992	0.91[ASN][1000 genomes]
rs1814796	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012679	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2271340	0.89[ASN][1000 genomes]
rs2271341	0.89[ASN][1000 genomes]
rs2409088	0.83[ASN][1000 genomes]
rs2409089	0.81[ASN][1000 genomes]
rs2409090	0.85[ASN][1000 genomes]
rs28896865	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs473258	1.00[ASN][1000 genomes]
rs481061	0.96[ASN][1000 genomes]
rs4841038	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4841041	0.81[ASN][1000 genomes]
rs487092	0.96[ASN][1000 genomes]
rs492421	0.89[ASN][1000 genomes]
rs500115	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503750	0.89[ASN][1000 genomes]
rs520197	0.96[ASN][1000 genomes]
rs525160	0.91[ASN][1000 genomes]
rs537878	0.96[ASN][1000 genomes]
rs565169	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs570916	0.91[ASN][1000 genomes]
rs572059	0.91[ASN][1000 genomes]
rs579125	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs591258	0.83[ASN][1000 genomes]
rs611720	0.89[ASN][1000 genomes]
rs612182	1.00[ASN][1000 genomes]
rs617745	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs627407	0.91[ASN][1000 genomes]
rs630124	0.91[ASN][1000 genomes]
rs630160	0.91[ASN][1000 genomes]
rs630199	0.88[ASN][1000 genomes]
rs638703	0.91[ASN][1000 genomes]
rs657067	0.89[ASN][1000 genomes]
rs659162	1.00[ASN][1000 genomes]
rs659256	0.89[ASN][1000 genomes]
rs6601732	0.85[ASN][1000 genomes]
rs677039	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	esv1795023	chr8:8583943-8655580	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1825234	chr8:8583943-8655580	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8621400-8646200	Weak transcription	Right Atrium	heart
2	chr8:8630600-8642200	Weak transcription	Fetal Brain Female	brain
3	chr8:8630800-8641200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8630800-8646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:8630800-8647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:8631000-8640200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:8631000-8641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:8631000-8642000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:8631000-8646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:8631000-8647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:8631000-8648400	Weak transcription	Fetal Stomach	stomach
12	chr8:8631200-8641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:8631200-8641200	Weak transcription	Aorta	Aorta
14	chr8:8631200-8652400	Weak transcription	Ovary	ovary
15	chr8:8631600-8640200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:8633200-8640600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:8633200-8641200	Weak transcription	HSMMtube	muscle
18	chr8:8633800-8641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:8636200-8640200	Weak transcription	Dnd41	blood
20	chr8:8637000-8640400	Weak transcription	Fetal Kidney	kidney
21	chr8:8637400-8641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:8637600-8640200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:8637600-8642000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:8637600-8646000	Weak transcription	Left Ventricle	heart
25	chr8:8637600-8646200	Weak transcription	Pancreas	Pancrea
26	chr8:8637600-8648800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:8637600-8653400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:8637800-8640200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:8637800-8640200	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:8637800-8640200	Weak transcription	Osteobl	bone
32	chr8:8637800-8640800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:8637800-8641600	Weak transcription	Fetal Brain Male	brain
34	chr8:8637800-8642400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:8637800-8648000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:8637800-8651000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:8638000-8640200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:8638000-8640400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:8638000-8641000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:8638000-8641000	Weak transcription	Thymus	Thymus
41	chr8:8638000-8641000	Weak transcription	GM12878-XiMat	blood
42	chr8:8638000-8641200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:8638000-8641200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:8638000-8646200	Weak transcription	K562	blood
45	chr8:8638200-8640200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:8638200-8640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:8638200-8651000	Weak transcription	Fetal Intestine Large	intestine
48	chr8:8638400-8641600	Weak transcription	Fetal Heart	heart
49	chr8:8638600-8641000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:8638600-8641200	Weak transcription	Primary B cells from cord blood	blood

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