Variant report

Variant	rs28630640
Chromosome Location	chr8:104426531-104426532
allele	C/T
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	MAX	chr8:104426414-104428358	HCT-116	colon:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
2	SP1	chr8:104426523-104428188	HCT-116	colon:	n/a	n/a
3	MYC	chr8:104426486-104428473	NB4	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
4	TBP	chr8:104426503-104428068	GM12878	blood:	n/a	n/a
5	EP300	chr8:104426331-104427932	K562	blood:	n/a	chr8:104426449-104426463
6	ATF2	chr8:104426511-104427936	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:104426455-104427987	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:104426433-104428920	GM12878	blood:	n/a	n/a
9	MAX	chr8:104426351-104428096	HepG2	liver:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
10	MAX	chr8:104426337-104428073	A549	lung:	n/a	chr8:104426634-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426631-104426646 chr8:104426634-104426644 chr8:104426633-104426646 chr8:104426635-104426644 chr8:104426634-104426643 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426648
11	USF1	chr8:104426402-104426752	K562	blood:	n/a	n/a
12	MAX	chr8:104426343-104428332	ECC-1	luminal epithelium:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
13	MAX	chr8:104426459-104428082	GM12878	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
14	POLR2A	chr8:104425420-104427990	MCF10A-Er-Src	breast:	n/a	n/a
15	USF1	chr8:104426473-104427020	K562	blood:	n/a	n/a
16	MAX	chr8:104426441-104428354	NB4	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
17	BHLHE40	chr8:104426390-104427883	K562	blood:	n/a	n/a
18	USF1	chr8:104426495-104427004	A549	lung:	n/a	n/a
19	SIN3AK20	chr8:104426391-104428136	HCT-116	colon:	n/a	n/a
20	MXI1	chr8:104426486-104428205	H1-hESC	embryonic stem cell:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
21	USF1	chr8:104426375-104428080	HCT-116	colon:	n/a	chr8:104427560-104427571
22	MAX	chr8:104426433-104428102	SK-N-SH	brain:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
23	USF1	chr8:104426496-104426859	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr8:104426466-104427787	K562	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
25	SPI1	chr8:104426488-104427159	HL-60	blood:	n/a	n/a
26	POLR2A	chr8:104423258-104429002	IMR90	lung:	n/a	n/a
27	MYC	chr8:104426471-104428006	Hela-S3	cervix:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
28	GABPA	chr8:104426518-104428137	MCF-7	breast:	n/a	n/a
29	CHD1	chr8:104426253-104426998	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr8:104426465-104428143	PFSK-1	brain:	n/a	n/a
31	USF1	chr8:104426391-104426805	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:104426473-104427977	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:104426492-104427975	GM19099	blood:	n/a	n/a
34	MYC	chr8:104425858-104428543	MCF10A-Er-Src	breast:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
35	USF2	chr8:104425933-104426934	Hela-S3	cervix:	n/a	chr8:104426633-104426644
36	POLR2A	chr8:104426474-104427951	GM12891	blood:	n/a	n/a
37	GABPA	chr8:104426511-104428220	A549	lung:	n/a	n/a
38	TCF12	chr8:104426452-104428077	A549	lung:	n/a	n/a
39	MYC	chr8:104426458-104428109	K562	blood:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
40	POLR2A	chr8:104426502-104427899	Hela-S3	cervix:	n/a	n/a
41	MAX	chr8:104426468-104428033	ECC-1	luminal epithelium:	n/a	chr8:104426634-104426645 chr8:104426635-104426644 chr8:104426633-104426648 chr8:104426634-104426643 chr8:104426634-104426644 chr8:104426634-104426645 chr8:104426631-104426646 chr8:104426635-104426645 chr8:104426634-104426645 chr8:104426635-104426645 chr8:104426633-104426646
42	TBP	chr8:104426090-104428588	Hela-S3	cervix:	n/a	n/a
43	BHLHE40	chr8:104426472-104427923	GM12878	blood:	n/a	n/a
44	REST	chr8:104426450-104428211	H1-neurons	neurons:	n/a	n/a
45	SIN3AK20	chr8:104426470-104427980	H1-hESC	embryonic stem cell:	n/a	n/a
46	ELF1	chr8:104426501-104428297	MCF-7	breast:	n/a	chr8:104427951-104427962 chr8:104426865-104426876
47	USF1	chr8:104426486-104426853	SK-N-SH	brain:	n/a	n/a
48	E2F6	chr8:104426433-104427936	H1-hESC	embryonic stem cell:	n/a	chr8:104427715-104427723
49	POLR2A	chr8:104426442-104427904	GM12878	blood:	n/a	n/a
50	JUN	chr8:104426398-104428213	K562	blood:	n/a	chr8:104427961-104427969

No.	Distal block	Cell Line	Cell type
1	chr8:103423558..103425413-chr8:104426002..104428087,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104032077..104034821-chr8:104426211..104427812,2	MCF-7	breast:
4	chr8:104292150..104293871-chr8:104425235..104426887,2	MCF-7	breast:
5	chr8:104401208..104405161-chr8:104423386..104426686,3	K562	blood:
6	chr8:104383757..104385653-chr8:104425622..104427492,3	K562	blood:
7	chr8:103876345..103878103-chr8:104425943..104427544,2	K562	blood:
8	chr8:104384537..104387363-chr8:104425771..104427328,2	MCF-7	breast:
9	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
10	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
11	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:
12	chr8:104384521..104386453-chr8:104425627..104427344,2	K562	blood:
13	chr8:104308989..104311574-chr8:104426420..104428349,3	MCF-7	breast:
14	chr8:104382426..104384366-chr8:104426073..104428422,3	MCF-7	breast:
15	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:

Variant related genes	Relation type
DCAF13	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000253477	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000176406	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10093237	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094939	1.00[ASN][1000 genomes]
rs10103739	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10108112	1.00[ASN][1000 genomes]
rs10112317	1.00[ASN][1000 genomes]
rs13270521	0.95[AMR][1000 genomes]
rs1370007	1.00[ASN][1000 genomes]
rs17804088	1.00[ASN][1000 genomes]
rs17804149	1.00[ASN][1000 genomes]
rs28811720	0.95[AMR][1000 genomes]
rs35500845	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71520812	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs981816	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104401600-104426600	Weak transcription	Esophagus	oesophagus
2	chr8:104404200-104426600	Weak transcription	Pancreas	Pancrea
3	chr8:104405800-104426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:104405800-104426600	Weak transcription	Gastric	stomach
5	chr8:104419000-104426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:104422800-104426600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:104422800-104426600	Weak transcription	Lung	lung
8	chr8:104422800-104426600	Weak transcription	Spleen	Spleen
9	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
10	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:104424000-104426600	Weak transcription	Left Ventricle	heart
12	chr8:104424600-104426800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:104424600-104428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:104425400-104427000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:104425400-104429200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:104425600-104426600	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr8:104425600-104426800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr8:104425600-104428600	Active TSS	Psoas Muscle	Psoas
19	chr8:104425600-104428600	Active TSS	Right Ventricle	heart
20	chr8:104425600-104429000	Active TSS	Right Atrium	heart
21	chr8:104425600-104429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:104425800-104426600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:104425800-104426600	Weak transcription	Ovary	ovary
24	chr8:104425800-104426600	Weak transcription	Small Intestine	intestine
25	chr8:104425800-104427000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:104425800-104428600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:104425800-104428600	Active TSS	HSMMtube	muscle
28	chr8:104425800-104428600	Active TSS	NHDF-Ad	bronchial
29	chr8:104425800-104428800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:104425800-104428800	Active TSS	K562	blood
31	chr8:104425800-104429000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr8:104425800-104429000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:104425800-104429000	Active TSS	HSMM	muscle
34	chr8:104425800-104429200	Active TSS	NHLF	lung
35	chr8:104426000-104426600	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr8:104426000-104426600	Active TSS	HepG2	liver
37	chr8:104426000-104426800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:104426000-104426800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr8:104426000-104426800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:104426000-104428000	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:104426000-104428000	Active TSS	Stomach Smooth Muscle	stomach
42	chr8:104426000-104428200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr8:104426000-104428400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:104426000-104428400	Active TSS	Fetal Muscle Leg	muscle
45	chr8:104426000-104428400	Active TSS	Hela-S3	cervix
46	chr8:104426000-104428400	Active TSS	HMEC	breast
47	chr8:104426000-104428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr8:104426000-104428600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:104426000-104428600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:104426000-104428800	Active TSS	HUES6 Cell Line	embryonic stem cell

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