Variant report

Variant	rs7833434
Chromosome Location	chr8:104428166-104428167
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	BACH1	chr8:104426923-104428365	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	SP1	chr8:104426523-104428188	HCT-116	colon:	n/a	n/a
4	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
5	RCOR1	chr8:104426610-104428894	K562	blood:	n/a	n/a
6	POLR2A	chr8:104426433-104428920	GM12878	blood:	n/a	n/a
7	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
8	POLR2A	chr8:104426548-104428191	K562	blood:	n/a	n/a
9	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
10	MYC	chr8:104426561-104428245	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
11	MXI1	chr8:104426486-104428205	H1-hESC	embryonic stem cell:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
12	POLR2A	chr8:104423258-104429002	IMR90	lung:	n/a	n/a
13	CHD1	chr8:104426558-104428643	GM12878	blood:	n/a	n/a
14	STAT3	chr8:104428071-104428435	MCF10A-Er-Src	breast:	n/a	n/a
15	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
16	SIN3AK20	chr8:104426665-104428169	SK-N-SH	brain:	n/a	n/a
17	GABPA	chr8:104426511-104428220	A549	lung:	n/a	n/a
18	TBP	chr8:104426090-104428588	Hela-S3	cervix:	n/a	n/a
19	REST	chr8:104426450-104428211	H1-neurons	neurons:	n/a	n/a
20	ELF1	chr8:104426501-104428297	MCF-7	breast:	n/a	chr8:104427951-104427962 chr8:104426865-104426876
21	JUN	chr8:104426398-104428213	K562	blood:	n/a	chr8:104427961-104427969
22	MAX	chr8:104426350-104428265	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
23	ELF1	chr8:104426749-104428260	HCT-116	colon:	n/a	chr8:104427951-104427962 chr8:104426865-104426876
24	TBP	chr8:104426579-104428174	K562	blood:	n/a	n/a
25	SIN3AK20	chr8:104426315-104428888	MCF-7	breast:	n/a	n/a
26	MXI1	chr8:104426353-104428955	GM12878	blood:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
27	MXI1	chr8:104426424-104428682	Hela-S3	cervix:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
28	MXI1	chr8:104425196-104428858	IMR90	lung:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
29	POLR2A	chr8:104426324-104428846	GM12891	blood:	n/a	n/a
30	USF1	chr8:104426376-104428217	HCT-116	colon:	n/a	chr8:104427560-104427571
31	HCFC1	chr8:104426102-104428524	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:104425305-104428560	PFSK-1	brain:	n/a	n/a
33	MYC	chr8:104426180-104428730	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
34	MYC	chr8:104426128-104428364	A549	lung:	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	MYC	chr8:104426405-104428849	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
36	JUN	chr8:104428101-104428293	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:104426467-104428239	Hela-S3	cervix:	n/a	n/a
38	TBL1XR1	chr8:104427188-104428609	K562	blood:	n/a	n/a
39	MAX	chr8:104426294-104428540	A549	lung:	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	GABPA	chr8:104426393-104428541	MCF-7	breast:	n/a	n/a
41	POLR2A	chr8:104426496-104428912	Raji	blood:	n/a	n/a
42	SIN3A	chr8:104426333-104428856	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr8:104426432-104428262	MCF-7	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
44	RELA	chr8:104426705-104428176	GM19099	blood:	n/a	n/a
45	POLR2A	chr8:104425382-104428398	MCF10A-Er-Src	breast:	n/a	n/a
46	MXI1	chr8:104425295-104429257	SK-N-SH	brain:	n/a	chr8:104426636-104426645 chr8:104426634-104426643
47	MYC	chr8:104426448-104428725	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
48	SIN3AK20	chr8:104426263-104428294	MCF-7	breast:	n/a	n/a
49	SMC3	chr8:104427659-104428394	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:50353062..50354689-chr8:104427173..104429081,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104427774..104429306-chr8:104457033..104459237,2	MCF-7	breast:
4	chr8:104427653..104431566-chr8:104442876..104445476,3	K562	blood:
5	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
6	chr8:104412488..104416313-chr8:104425793..104429036,7	MCF-7	breast:
7	chr8:104427678..104428217-chr8:104524029..104524933,2	MCF-7	breast:
8	chr8:104308989..104311574-chr8:104426420..104428349,3	MCF-7	breast:
9	chr8:104426587..104428303-chr8:104493645..104496193,2	MCF-7	breast:
10	chr16:4743346..4745302-chr8:104426942..104429289,2	MCF-7	breast:
11	chr8:104382426..104384366-chr8:104426073..104428422,3	MCF-7	breast:
12	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:
13	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A32	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000168101	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000198355	Chromatin interaction
ENSG00000271830	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000176406	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253477	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2118058	1.00[AMR][1000 genomes]
rs2388534	1.00[AMR][1000 genomes]
rs2892544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834718	1.00[AMR][1000 genomes]
rs7835639	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
2	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:104424600-104428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104425400-104429200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:104425600-104428600	Active TSS	Psoas Muscle	Psoas
6	chr8:104425600-104428600	Active TSS	Right Ventricle	heart
7	chr8:104425600-104429000	Active TSS	Right Atrium	heart
8	chr8:104425600-104429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104425800-104428600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:104425800-104428600	Active TSS	HSMMtube	muscle
11	chr8:104425800-104428600	Active TSS	NHDF-Ad	bronchial
12	chr8:104425800-104428800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104425800-104428800	Active TSS	K562	blood
14	chr8:104425800-104429000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:104425800-104429000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:104425800-104429000	Active TSS	HSMM	muscle
17	chr8:104425800-104429200	Active TSS	NHLF	lung
18	chr8:104426000-104428200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:104426000-104428400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:104426000-104428400	Active TSS	Fetal Muscle Leg	muscle
21	chr8:104426000-104428400	Active TSS	Hela-S3	cervix
22	chr8:104426000-104428400	Active TSS	HMEC	breast
23	chr8:104426000-104428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:104426000-104428600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:104426000-104428600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:104426000-104428800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:104426000-104428800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:104426000-104429000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:104426000-104429200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:104426000-104429200	Active TSS	A549	lung
31	chr8:104426200-104428200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:104426200-104428200	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr8:104426200-104428200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:104426200-104428200	Active TSS	Brain Germinal Matrix	brain
35	chr8:104426200-104428200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:104426200-104428200	Active TSS	Osteobl	bone
37	chr8:104426200-104428400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:104426200-104428400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:104426200-104428400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:104426200-104428400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:104426200-104428400	Active TSS	Fetal Stomach	stomach
42	chr8:104426200-104428400	Active TSS	Dnd41	blood
43	chr8:104426200-104428400	Active TSS	NH-A	brain
44	chr8:104426200-104428600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:104426200-104428600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:104426200-104428600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:104426200-104428600	Active TSS	Fetal Thymus	thymus
48	chr8:104426200-104428600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:104426200-104428600	Active TSS	NHEK	skin
50	chr8:104426200-104428800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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