Variant report

Variant	rs17524874
Chromosome Location	chr8:11659928-11659929
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	EP300	chr8:11659785-11660441	HepG2	liver:	n/a	n/a
2	JUND	chr8:11659738-11661067	K562	blood:	n/a	chr8:11660198-11660207 chr8:11660117-11660126
3	POLR2A	chr8:11659699-11660476	GM12891	blood:	n/a	n/a
4	ZNF143	chr8:11659844-11661001	Hela-S3	cervix:	n/a	chr8:11660636-11660646 chr8:11660761-11660776
5	HCFC1	chr8:11659437-11661136	Hela-S3	cervix:	n/a	n/a
6	TBP	chr8:11659420-11660837	HepG2	liver:	n/a	n/a
7	SP2	chr8:11659823-11660282	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:11659473-11661258	K562	blood:	n/a	n/a
9	TBP	chr8:11659371-11660473	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFYB	chr8:11659506-11660607	GM12878	blood:	n/a	chr8:11660112-11660124 chr8:11660081-11660093 chr8:11660079-11660094 chr8:11660113-11660128 chr8:11660115-11660125 chr8:11660113-11660128 chr8:11660113-11660127 chr8:11660033-11660043
11	EP300	chr8:11659681-11660256	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:11659699-11660940	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:11659723-11659992	A549	lung:	n/a	n/a
14	GTF2F1	chr8:11659759-11660355	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:11659657-11660778	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr8:11659721-11660131	A549	lung:	n/a	n/a
17	SREBP1	chr8:11659784-11660320	HepG2	liver:	n/a	n/a
18	MYC	chr8:11659671-11660350	MCF10A-Er-Src	breast:	n/a	chr8:11659821-11659832 chr8:11659824-11659833 chr8:11659821-11659831
19	POLR2A	chr8:11659716-11660685	GM10847	blood:	n/a	n/a
20	USF2	chr8:11659851-11660255	HepG2	liver:	n/a	chr8:11660162-11660178 chr8:11660194-11660210
21	REST	chr8:11659752-11660540	ECC-1	luminal epithelium:	n/a	n/a
22	FOXP2	chr8:11659786-11660764	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr8:11659602-11660928	MCF-7	breast:	n/a	n/a
24	CHD2	chr8:11659790-11660542	GM12878	blood:	n/a	n/a
25	USF1	chr8:11659891-11660319	A549	lung:	n/a	chr8:11660162-11660178 chr8:11660194-11660210
26	ZBTB7A	chr8:11659818-11660007	HepG2	liver:	n/a	n/a
27	REST	chr8:11659683-11660500	A549	lung:	n/a	chr8:11659737-11659750
28	SP4	chr8:11659806-11660451	H1-hESC	embryonic stem cell:	n/a	n/a
29	SP1	chr8:11659526-11660508	H1-hESC	embryonic stem cell:	n/a	chr8:11660186-11660198 chr8:11660466-11660475 chr8:11660070-11660091 chr8:11660198-11660210 chr8:11660200-11660209 chr8:11660198-11660210 chr8:11660466-11660475 chr8:11660465-11660474 chr8:11660114-11660135 chr8:11660186-11660198
30	TAF1	chr8:11659562-11660488	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr8:11659758-11660053	GM12892	blood:	n/a	n/a
32	POLR2A	chr8:11659382-11660850	GM12892	blood:	n/a	n/a
33	E2F6	chr8:11659455-11660498	H1-hESC	embryonic stem cell:	n/a	chr8:11660465-11660477 chr8:11660199-11660208 chr8:11660190-11660199 chr8:11660115-11660124 chr8:11660081-11660090
34	POLR2A	chr8:11659563-11660048	HepG2	liver:	n/a	n/a
35	MAZ	chr8:11659492-11661341	IMR90	lung:	n/a	chr8:11659821-11659832 chr8:11659824-11659833 chr8:11659821-11659831
36	POLR2A	chr8:11659352-11660997	GM18505	blood:	n/a	n/a
37	POLR2A	chr8:11659628-11660063	A549	lung:	n/a	n/a
38	FOXA2	chr8:11659468-11660070	HepG2	liver:	n/a	n/a
39	MYC	chr8:11659895-11659955	MCF-7	breast:	n/a	n/a
40	RELA	chr8:11659637-11661100	GM15510	blood:	n/a	n/a
41	POLR2A	chr8:11659709-11660068	GM12891	blood:	n/a	n/a
42	CHD2	chr8:11659507-11660440	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr8:11659476-11660901	ECC-1	luminal epithelium:	n/a	chr8:11660455-11660465
44	POLR2A	chr8:11659417-11661294	GM18951	blood:	n/a	n/a
45	MAX	chr8:11659548-11661745	Hela-S3	cervix:	n/a	chr8:11659821-11659832 chr8:11661370-11661381 chr8:11659824-11659833 chr8:11659821-11659831
46	FOXA1	chr8:11659587-11660210	HepG2	liver:	n/a	n/a
47	TBP	chr8:11659706-11660392	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr8:11659331-11660693	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr8:11659802-11660699	Gliobla	brain:	n/a	n/a
50	RELA	chr8:11659750-11660615	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
2	chr11:2398309..2399006-chr8:11659548..11660515,2	HCT-116	colon:
3	chr6:24666810..24667602-chr8:11659901..11660485,2	HCT-116	colon:
4	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
5	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
6	chr17:41465211..41466190-chr8:11659722..11660251,2	Hela-S3	cervix:
7	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
8	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
9	chr8:11659426..11661474-chr8:11724613..11726870,3	MCF-7	breast:
10	chr6:30029044..30029552-chr8:11659926..11660449,2	HCT-116	colon:
11	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
12	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
13	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-297N6.4.1-1	chr8:11659431-11660021	NONHSAT125085

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000110651	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000227203	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000154328	Chromatin interaction
ENSG00000066379	Chromatin interaction
ENSG00000111802	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12056593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12542790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12542839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12543505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17524888	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17553545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17553559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking 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	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11659000-11663400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:11659200-11661200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:11659200-11663200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:11659400-11660000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr8:11659400-11660000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr8:11659400-11660000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr8:11659400-11660000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr8:11659400-11660000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:11659400-11660000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:11659400-11660000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr8:11659400-11660000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:11659400-11660000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11659400-11660000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:11659400-11660000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11659400-11660000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11659400-11660000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:11659400-11660000	Flanking Active TSS	Colonic Mucosa	Colon
19	chr8:11659400-11660000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr8:11659400-11660000	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr8:11659400-11660000	Flanking Active TSS	Fetal Thymus	thymus
22	chr8:11659400-11660000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:11659400-11660000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr8:11659400-11660000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:11659400-11660400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:11659400-11661000	Active TSS	Fetal Kidney	kidney
27	chr8:11659400-11661200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:11659400-11661200	Active TSS	Right Ventricle	heart
29	chr8:11659400-11661400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:11659400-11661400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:11659400-11661400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:11659400-11661600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:11659400-11661600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:11659400-11661800	Active TSS	A549	lung
35	chr8:11659400-11662600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:11659400-11663800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:11659600-11660000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr8:11659600-11660000	Flanking Active TSS	NH-A	brain
39	chr8:11659600-11660800	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:11659600-11661000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:11659600-11661000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:11659600-11661000	Active TSS	Colon Smooth Muscle	Colon
43	chr8:11659600-11661000	Active TSS	Fetal Heart	heart
44	chr8:11659600-11661000	Active TSS	Fetal Lung	lung
45	chr8:11659600-11661000	Active TSS	Placenta Amnion	Placenta Amnion
46	chr8:11659600-11661200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:11659600-11661200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:11659600-11661200	Active TSS	Left Ventricle	heart
49	chr8:11659600-11661200	Active TSS	Psoas Muscle	Psoas
50	chr8:11659600-11661200	Active TSS	Rectal Smooth Muscle	rectum

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