Variant report

Variant	rs28927984
Chromosome Location	chr8:103252478-103252479
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	POLR2A	chr8:103250483-103252767	HepG2	liver:	n/a	n/a
2	MYC	chr8:103250583-103252530	K562	blood:	n/a	chr8:103252521-103252530 chr8:103252520-103252530 chr8:103252520-103252530
3	POLR2A	chr8:103251521-103252567	HepG2	liver:	n/a	n/a
4	MYC	chr8:103250944-103252930	MCF10A-Er-Src	breast:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
5	MAX	chr8:103250361-103252737	MCF-7	breast:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
6	MXI1	chr8:103249696-103252738	SK-N-SH	brain:	n/a	chr8:103252520-103252529 chr8:103252520-103252529
7	MAZ	chr8:103250428-103252560	IMR90	lung:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
8	MAX	chr8:103250466-103252685	MCF-7	breast:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
9	RCOR1	chr8:103250594-103252605	IMR90	lung:	n/a	n/a
10	RFX5	chr8:103250724-103252556	Hela-S3	cervix:	n/a	n/a
11	MYC	chr8:103250480-103252740	K562	blood:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
12	POLR2A	chr8:103251453-103252478	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:103249704-103252596	GM12878	blood:	n/a	n/a
14	TBP	chr8:103251916-103252486	GM12878	blood:	n/a	n/a
15	TEAD4	chr8:103251311-103252527	K562	blood:	n/a	n/a
16	RELA	chr8:103251482-103252509	GM15510	blood:	n/a	n/a
17	MAX	chr8:103250519-103252710	NB4	blood:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
18	MXI1	chr8:103250000-103252677	GM12878	blood:	n/a	chr8:103252520-103252529 chr8:103252520-103252529
19	SIN3AK20	chr8:103250261-103252608	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:103248887-103252665	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:103250350-103252819	Raji	blood:	n/a	n/a
22	SPI1	chr8:103251455-103252662	GM12878	blood:	n/a	chr8:103252076-103252089 chr8:103252077-103252090 chr8:103252079-103252088
23	MAZ	chr8:103250691-103252541	GM12878	blood:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
24	MXI1	chr8:103250066-103252566	IMR90	lung:	n/a	chr8:103252520-103252529 chr8:103252520-103252529
25	MYC	chr8:103250496-103252664	NB4	blood:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
26	RUNX3	chr8:103250589-103252501	GM12878	blood:	n/a	n/a
27	MYC	chr8:103250743-103252735	MCF10A-Er-Src	breast:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531
28	MTA3	chr8:103251586-103252485	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr8:103250664-103252600	GM12878	blood:	n/a	n/a
30	CHD1	chr8:103251682-103252690	GM12878	blood:	n/a	n/a
31	MYC	chr8:103251488-103252532	K562	blood:	n/a	chr8:103252521-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252519-103252532 chr8:103252520-103252530 chr8:103252519-103252532 chr8:103252520-103252531 chr8:103252520-103252530 chr8:103252520-103252531

No.	Distal block	Cell Line	Cell type
1	chr8:103251204..103252824-chr8:103875184..103876837,2	MCF-7	breast:
2	chr8:101732898..101734475-chr8:103251086..103253067,2	K562	blood:
3	chr8:103251457..103253123-chr8:103664713..103667608,2	K562	blood:
4	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
5	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
6	chr8:102504608..102506883-chr8:103249593..103253284,4	MCF-7	breast:
7	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
8	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
9	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
10	chr8:103250799..103252817-chr8:103305128..103307836,2	MCF-7	breast:
11	chr8:103250549..103252806-chr8:103316215..103317935,2	MCF-7	breast:
12	chr8:103250463..103253576-chr8:103253593..103260199,5	K562	blood:
13	chr8:102504625..102506471-chr8:103250763..103252753,4	MCF-7	breast:
14	chr8:103250631..103253167-chr8:103267124..103270074,2	K562	blood:
15	chr8:103252256..103253981-chr8:103422815..103425571,2	MCF-7	breast:

Variant related genes	Relation type
RRM2B	TF binding region
ENSG00000246263	TF binding region
ENSG00000246263	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253328	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16869317	1.00[EUR][1000 genomes]
rs16869318	1.00[EUR][1000 genomes]
rs16869320	1.00[EUR][1000 genomes]
rs16869360	1.00[EUR][1000 genomes]
rs16869384	1.00[EUR][1000 genomes]
rs16869390	1.00[EUR][1000 genomes]
rs16869421	1.00[EUR][1000 genomes]
rs28999684	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58936362	1.00[EUR][1000 genomes]
rs60133998	1.00[EUR][1000 genomes]
rs60370901	1.00[EUR][1000 genomes]
rs6982960	1.00[EUR][1000 genomes]
rs7002260	1.00[EUR][1000 genomes]
rs73283346	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73283367	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283374	1.00[EUR][1000 genomes]
rs73283377	1.00[EUR][1000 genomes]
rs73283386	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283395	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283402	1.00[EUR][1000 genomes]
rs73285212	1.00[EUR][1000 genomes]
rs73285216	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285234	1.00[EUR][1000 genomes]
rs73285253	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285256	1.00[EUR][1000 genomes]
rs73285272	1.00[EUR][1000 genomes]
rs73285276	1.00[EUR][1000 genomes]
rs73285278	1.00[EUR][1000 genomes]
rs73285292	1.00[EUR][1000 genomes]
rs73285300	1.00[EUR][1000 genomes]
rs7813561	1.00[EUR][1000 genomes]
rs7819190	1.00[EUR][1000 genomes]
rs7844478	1.00[EUR][1000 genomes]
rs7845522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103249400-103252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:103249400-103252800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:103249600-103253200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:103249800-103252600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103249800-103252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:103250000-103252600	Active TSS	Thymus	Thymus
7	chr8:103250200-103252600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:103250200-103252800	Active TSS	Fetal Kidney	kidney
9	chr8:103250400-103252600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:103250600-103252600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr8:103250600-103252600	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:103250600-103253400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:103250800-103252600	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr8:103251600-103252600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:103251800-103252600	Flanking Active TSS	Dnd41	blood
16	chr8:103251800-103252600	Flanking Active TSS	HMEC	breast
17	chr8:103251800-103252600	Flanking Active TSS	HUVEC	blood vessel
18	chr8:103252000-103252600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103252000-103252600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:103252000-103252600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:103252000-103252600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:103252000-103252600	Flanking Active TSS	Fetal Lung	lung
23	chr8:103252000-103252600	Flanking Active TSS	NHEK	skin
24	chr8:103252000-103252800	Enhancers	Fetal Heart	heart
25	chr8:103252000-103252800	Flanking Active TSS	Hela-S3	cervix
26	chr8:103252000-103268400	Weak transcription	Small Intestine	intestine
27	chr8:103252200-103252600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:103252200-103252600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:103252200-103252600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:103252200-103252600	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr8:103252200-103252600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:103252200-103252600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr8:103252200-103252600	Flanking Active TSS	Liver	Liver
34	chr8:103252200-103252600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr8:103252200-103252600	Active TSS	Colonic Mucosa	Colon
36	chr8:103252200-103252600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:103252200-103252600	Flanking Active TSS	Fetal Brain Female	brain
38	chr8:103252200-103252600	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr8:103252200-103252600	Enhancers	Stomach Mucosa	stomach
40	chr8:103252200-103252600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:103252200-103252800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:103252200-103252800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr8:103252200-103252800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:103252200-103252800	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr8:103252200-103252800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr8:103252200-103252800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr8:103252200-103253000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr8:103252200-103253000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr8:103252200-103253000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:103252200-103253000	Flanking Active TSS	GM12878-XiMat	blood

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