Variant report

Variant	rs28504261
Chromosome Location	chr8:6698657-6698658
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	RAD21	chr8:6697929-6699001	SK-N-SH	brain:	n/a	chr8:6698329-6698348 chr8:6698330-6698344
2	ZNF263	chr8:6697943-6698670	HEK293-T-REx	kidney:	n/a	n/a
3	CTCF	chr8:6698616-6698717	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr8:6698600-6698750	GM12869	blood:	n/a	n/a
5	CTCF	chr8:6697726-6698906	SK-N-SH	brain:	n/a	chr8:6698330-6698351 chr8:6698331-6698344 chr8:6698328-6698346 chr8:6698331-6698344 chr8:6697839-6697860 chr8:6698329-6698345 chr8:6697844-6697862
6	ATF2	chr8:6698116-6698670	GM12878	blood:	n/a	n/a
7	CTCF	chr8:6698587-6698699	GM19238	blood:	n/a	n/a
8	CTCF	chr8:6697989-6698771	HCT-116	colon:	n/a	chr8:6698330-6698351 chr8:6698331-6698344 chr8:6698328-6698346 chr8:6698331-6698344 chr8:6698329-6698345
9	MYC	chr8:6698011-6698721	NB4	blood:	n/a	chr8:6698092-6698102 chr8:6698433-6698441
10	RAD21	chr8:6698015-6698736	HCT-116	colon:	n/a	chr8:6698329-6698348 chr8:6698330-6698344
11	CREB1	chr8:6698103-6698743	GM12878	blood:	n/a	n/a
12	CTCF	chr8:6698028-6698667	K562	blood:	n/a	chr8:6698330-6698351 chr8:6698331-6698344 chr8:6698328-6698346 chr8:6698331-6698344 chr8:6698329-6698345
13	GTF2F1	chr8:6698216-6698766	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr8:6697939-6698789	Hela-S3	cervix:	n/a	chr8:6698330-6698344
15	CEBPB	chr8:6698194-6698666	H1-hESC	embryonic stem cell:	n/a	n/a
16	SMC3	chr8:6697967-6699069	SK-N-SH	brain:	n/a	chr8:6698330-6698344
17	CTCF	chr8:6697913-6698667	A549	lung:	n/a	chr8:6698330-6698351 chr8:6698331-6698344 chr8:6698328-6698346 chr8:6698331-6698344 chr8:6698329-6698345
18	CTCF	chr8:6698520-6698670	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr8:6698072-6698728	A549	lung:	n/a	chr8:6698329-6698348 chr8:6698330-6698344
20	CTCF	chr8:6698580-6698730	HepG2	liver:	n/a	n/a
21	CREB1	chr8:6698128-6698788	GM12878	blood:	n/a	n/a
22	RAD21	chr8:6697962-6698795	A549	lung:	n/a	chr8:6698329-6698348 chr8:6698330-6698344
23	TBP	chr8:6698271-6698735	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:6698648-6698684	GM12891	blood:	n/a	n/a
25	CREB1	chr8:6698131-6698699	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6697845..6698797-chr8:6721627..6722536,2	K562	blood:
2	chr8:6698096..6698895-chr8:6806928..6807708,2	K562	blood:
3	chr8:6698047..6698767-chr8:6776139..6777072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245857	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10091728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093181	1.00[EUR][1000 genomes]
rs10098895	1.00[EUR][1000 genomes]
rs11989622	1.00[EUR][1000 genomes]
rs2702921	1.00[EUR][1000 genomes]
rs2738059	1.00[EUR][1000 genomes]
rs56807402	1.00[EUR][1000 genomes]
rs5743411	1.00[EUR][1000 genomes]
rs5743415	1.00[EUR][1000 genomes]
rs5743416	1.00[EUR][1000 genomes]
rs5743417	1.00[EUR][1000 genomes]
rs5743426	1.00[EUR][1000 genomes]
rs5743434	1.00[EUR][1000 genomes]
rs5743491	1.00[EUR][1000 genomes]
rs57511565	1.00[EUR][1000 genomes]
rs7011078	1.00[EUR][1000 genomes]
rs73661493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820009	1.00[EUR][1000 genomes]
rs9773259	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
16	nsv1015563	chr8:6596171-6730826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	nsv539432	chr8:6596171-6730826	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv1015244	chr8:6638899-6988914	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
19	esv2752262	chr8:6638899-7011075	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv1025587	chr8:6651912-7171085	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
21	nsv465437	chr8:6655391-6829085	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv610007	chr8:6655391-6829085	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1031296	chr8:6673296-6920312	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv890060	chr8:6690276-6717107	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:6693400-6699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:6694000-6699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:6697800-6699600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:6698000-6698800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:6698000-6698800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:6698000-6698800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:6698000-6699000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:6698000-6699000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:6698000-6699000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:6698000-6699000	Enhancers	Hela-S3	cervix
11	chr8:6698000-6699000	Active TSS	NHLF	lung
12	chr8:6698000-6699200	Enhancers	Fetal Brain Male	brain
13	chr8:6698000-6699200	Enhancers	Fetal Heart	heart
14	chr8:6698000-6699200	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:6698000-6699600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:6698000-6699600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:6698000-6699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:6698200-6698800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr8:6698200-6698800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:6698200-6698800	Flanking Active TSS	Fetal Kidney	kidney
21	chr8:6698200-6699000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:6698200-6699000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:6698200-6699000	Active TSS	Brain Anterior Caudate	brain
24	chr8:6698200-6699000	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:6698200-6699000	Flanking Active TSS	NH-A	brain
26	chr8:6698200-6699200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:6698200-6699200	Active TSS	Osteobl	bone
28	chr8:6698400-6698800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:6698400-6698800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr8:6698400-6698800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:6698400-6698800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr8:6698400-6698800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr8:6698400-6698800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:6698400-6698800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:6698400-6698800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:6698400-6698800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:6698400-6698800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:6698400-6698800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr8:6698400-6698800	Flanking Active TSS	Fetal Lung	lung
40	chr8:6698400-6698800	Active TSS	Thymus	Thymus
41	chr8:6698400-6698800	Flanking Active TSS	HMEC	breast
42	chr8:6698400-6698800	Active TSS	NHDF-Ad	bronchial
43	chr8:6698400-6699000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:6698400-6699000	Active TSS	Primary T cells from cord blood	blood
45	chr8:6698400-6699000	Active TSS	Primary hematopoietic stem cells	blood
46	chr8:6698400-6699000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr8:6698400-6699000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr8:6698400-6699000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:6698400-6699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:6698400-6699000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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