Variant report

Variant	rs28999669
Chromosome Location	chr8:103250991-103250992
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	TAF1	chr8:103250859-103251387	SK-N-SH	brain:	n/a	n/a
2	ELF1	chr8:103250842-103251282	A549	lung:	n/a	n/a
3	ETS1	chr8:103250762-103251421	K562	blood:	n/a	chr8:103251205-103251216
4	SP4	chr8:103250741-103251759	H1-hESC	embryonic stem cell:	n/a	chr8:103251719-103251735 chr8:103251310-103251321 chr8:103251343-103251354 chr8:103251520-103251536 chr8:103251376-103251387 chr8:103251201-103251217 chr8:103251203-103251219 chr8:103251717-103251733
5	JUN	chr8:103250930-103251112	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:103250819-103251263	HCT-116	colon:	n/a	n/a
7	CHD1	chr8:103248792-103252333	IMR90	lung:	n/a	chr8:103251203-103251213
8	POLR2A	chr8:103250483-103252767	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:103250664-103251248	A549	lung:	n/a	n/a
10	SP1	chr8:103250830-103251227	GM12878	blood:	n/a	chr8:103251204-103251214 chr8:103250871-103250885 chr8:103251205-103251214 chr8:103251203-103251215 chr8:103251204-103251218 chr8:103251204-103251213 chr8:103251204-103251214 chr8:103251203-103251215 chr8:103251204-103251213
11	TAF1	chr8:103250820-103251227	H1-neurons	neurons:	n/a	n/a
12	TBP	chr8:103249997-103251247	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:103250445-103251238	GM12892	blood:	n/a	n/a
14	TAF1	chr8:103250703-103251242	GM12891	blood:	n/a	n/a
15	MYC	chr8:103250583-103252530	K562	blood:	n/a	chr8:103252521-103252530 chr8:103252520-103252530 chr8:103252520-103252530
16	MXI1	chr8:103250706-103251182	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:103250752-103251351	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr8:103250600-103252181	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr8:103250659-103251378	A549	lung:	n/a	n/a
20	PBX3	chr8:103250921-103251523	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr8:103250538-103252064	Hela-S3	cervix:	n/a	n/a
22	POU2F2	chr8:103250536-103251255	GM12891	blood:	n/a	chr8:103251205-103251217
23	POLR2A	chr8:103250819-103251324	PANC-1	pancreas:	n/a	n/a
24	SIN3AK20	chr8:103250754-103251149	A549	lung:	n/a	n/a
25	POLR2A	chr8:103250754-103251331	HCT-116	colon:	n/a	n/a
26	TAF1	chr8:103250918-103251242	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr8:103250456-103252348	MCF-7	breast:	n/a	chr8:103251205-103251214 chr8:103251488-103251497 chr8:103251573-103251582
28	POLR2A	chr8:103250817-103251284	H1-hESC	embryonic stem cell:	n/a	n/a
29	POU2F2	chr8:103250836-103251180	GM12878	blood:	n/a	n/a
30	POU2F2	chr8:103250380-103252280	GM12878	blood:	n/a	chr8:103251205-103251217 chr8:103251721-103251733
31	TAF1	chr8:103250891-103251351	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:103250532-103252474	K562	blood:	n/a	n/a
33	CEBPB	chr8:103250891-103251189	A549	lung:	n/a	n/a
34	SMC3	chr8:103250539-103252122	Hela-S3	cervix:	n/a	chr8:103251207-103251217 chr8:103251906-103251914
35	SP1	chr8:103250681-103252083	A549	lung:	n/a	chr8:103251204-103251214 chr8:103250871-103250885 chr8:103251719-103251731 chr8:103251720-103251734 chr8:103251310-103251321 chr8:103251205-103251214 chr8:103251203-103251215 chr8:103251204-103251218 chr8:103251343-103251354 chr8:103251720-103251729 chr8:103251376-103251387 chr8:103251523-103251533 chr8:103251204-103251213 chr8:103251719-103251731 chr8:103251204-103251214 chr8:103251203-103251215 chr8:103251721-103251730 chr8:103251204-103251213
36	FOXA1	chr8:103250853-103251278	T-47D	breast:	n/a	n/a
37	STAT5A	chr8:103250770-103251283	K562	blood:	n/a	chr8:103250872-103250884
38	ELF1	chr8:103250789-103251290	HepG2	liver:	n/a	n/a
39	NFYB	chr8:103250846-103251197	GM12878	blood:	n/a	n/a
40	YY1	chr8:103250665-103252145	K562	blood:	n/a	chr8:103251205-103251214 chr8:103251574-103251585 chr8:103250926-103250940
41	RCOR1	chr8:103250738-103252311	Hela-S3	cervix:	n/a	n/a
42	ATF1	chr8:103250879-103251585	K562	blood:	n/a	n/a
43	MYBL2	chr8:103250763-103252197	HepG2	liver:	n/a	n/a
44	SP4	chr8:103250678-103252229	H1-hESC	embryonic stem cell:	n/a	chr8:103251719-103251735 chr8:103251310-103251321 chr8:103251343-103251354 chr8:103251520-103251536 chr8:103251376-103251387 chr8:103251201-103251217 chr8:103251203-103251219 chr8:103251717-103251733
45	MAX	chr8:103250835-103252065	A549	lung:	n/a	n/a
46	RELA	chr8:103250791-103251168	GM19099	blood:	n/a	n/a
47	CTBP2	chr8:103250606-103251337	H1-hESC	embryonic stem cell:	n/a	n/a
48	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
49	TAF1	chr8:103250728-103251286	SK-N-SH	brain:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
2	chr8:102504608..102506883-chr8:103249593..103253284,4	MCF-7	breast:
3	chr8:103249647..103255113-chr8:103258766..103269094,16	K562	blood:
4	chr8:103250055..103252401-chr8:103423281..103425578,3	K562	blood:
5	chr6:126307907..126309585-chr8:103249281..103251409,2	MCF-7	breast:
6	chr8:103250799..103252817-chr8:103305128..103307836,2	MCF-7	breast:
7	chr8:103250549..103252806-chr8:103316215..103317935,2	MCF-7	breast:
8	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
9	chr8:103250463..103253576-chr8:103253593..103260199,5	K562	blood:
10	chr8:102504625..102506471-chr8:103250763..103252753,4	MCF-7	breast:
11	chr8:103250631..103253167-chr8:103267124..103270074,2	K562	blood:
12	chr12:120729699..120731594-chr8:103249371..103251241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246263	TF binding region
ENSG00000253328	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000066651	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10505020	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248603	0.84[EUR][1000 genomes]
rs13249865	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250998	0.89[EUR][1000 genomes]
rs13259151	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261528	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13262662	0.87[EUR][1000 genomes]
rs13263132	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269311	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270908	0.89[EUR][1000 genomes]
rs13278798	0.89[EUR][1000 genomes]
rs13278875	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2061299	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927991	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270914	0.84[EUR][1000 genomes]
rs34278087	0.84[EUR][1000 genomes]
rs34279135	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34351006	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34356268	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34730203	0.89[EUR][1000 genomes]
rs34976508	0.84[EUR][1000 genomes]
rs35166521	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35316247	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35558240	0.83[EUR][1000 genomes]
rs35558370	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818724	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35873559	0.88[EUR][1000 genomes]
rs35969173	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980679	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178006	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56003023	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572423	0.91[EUR][1000 genomes]
rs71518852	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518862	0.82[EUR][1000 genomes]
rs9650000	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650001	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650002	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103248800-103252400	Active TSS	Aorta	Aorta
2	chr8:103249000-103251000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr8:103249000-103251000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr8:103249000-103251000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:103249200-103251000	Active TSS	Right Atrium	heart
6	chr8:103249200-103252200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:103249200-103252200	Active TSS	NHLF	lung
8	chr8:103249400-103252200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:103249400-103252200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:103249400-103252200	Active TSS	HSMM	muscle
11	chr8:103249400-103252400	Active TSS	Psoas Muscle	Psoas
12	chr8:103249400-103252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:103249400-103252800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:103249600-103252200	Active TSS	GM12878-XiMat	blood
15	chr8:103249600-103252200	Active TSS	NHDF-Ad	bronchial
16	chr8:103249600-103252400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:103249600-103253200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:103249800-103251000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:103249800-103251800	Active TSS	HMEC	breast
20	chr8:103249800-103252000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:103249800-103252000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:103249800-103252200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:103249800-103252200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:103249800-103252400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:103249800-103252400	Active TSS	Ovary	ovary
26	chr8:103249800-103252600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:103249800-103252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:103250000-103251000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr8:103250000-103251000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:103250000-103252200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:103250000-103252200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103250000-103252200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr8:103250000-103252200	Active TSS	Fetal Intestine Small	intestine
34	chr8:103250000-103252200	Active TSS	HSMMtube	muscle
35	chr8:103250000-103252200	Active TSS	K562	blood
36	chr8:103250000-103252400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:103250000-103252400	Active TSS	Colon Smooth Muscle	Colon
38	chr8:103250000-103252600	Active TSS	Thymus	Thymus
39	chr8:103250200-103251000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:103250200-103251000	Active TSS	Fetal Heart	heart
41	chr8:103250200-103252000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr8:103250200-103252200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:103250200-103252200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:103250200-103252200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:103250200-103252200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:103250200-103252200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:103250200-103252200	Active TSS	Fetal Intestine Large	intestine
48	chr8:103250200-103252400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:103250200-103252400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:103250200-103252400	Active TSS	Fetal Muscle Leg	muscle

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