Variant report

Variant	rs1676420
Chromosome Location	chr8:107672050-107672051
allele	A/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	CREB1	chr8:107672027-107672317	GM12878	blood:	n/a	n/a
2	UBTF	chr8:107671893-107672165	K562	blood:	n/a	n/a
3	POLR2A	chr8:107669142-107672076	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr8:107671825-107672263	K562	blood:	n/a	chr8:107671924-107671931
5	MXI1	chr8:107672050-107672063	HepG2	liver:	n/a	n/a
6	USF1	chr8:107672044-107672389	K562	blood:	n/a	n/a
7	MAX	chr8:107671755-107672186	K562	blood:	n/a	chr8:107671924-107671931
8	MYC	chr8:107671333-107672116	MCF10A-Er-Src	breast:	n/a	chr8:107671924-107671931
9	RUNX3	chr8:107671985-107672406	GM12878	blood:	n/a	n/a
10	MYC	chr8:107671713-107672138	MCF10A-Er-Src	breast:	n/a	chr8:107671924-107671931
11	E2F4	chr8:107671719-107672059	MCF10A-Er-Src	breast:	n/a	n/a
12	UBTF	chr8:107671927-107672159	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107670148..107672369-chr8:107708725..107710422,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	TF binding region
ENSG00000253676	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1580289	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1601249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1681886	0.90[CHB][hapmap]
rs1681904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1681905	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1784469	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1784472	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784473	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784480	0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs1784492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1784494	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126581	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2282509	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2627788	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2627790	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3132803	0.81[YRI][hapmap]
rs725906	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776934	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776938	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776939	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776941	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs776944	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776946	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776948	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs776949	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs776950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776954	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776960	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs776961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776962	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776963	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
2	chr8:107669200-107672600	Active TSS	Aorta	Aorta
3	chr8:107670400-107672400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr8:107670600-107672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:107670600-107672600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:107670600-107672800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:107670800-107672200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr8:107670800-107675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:107670800-107675800	Weak transcription	Spleen	Spleen
10	chr8:107670800-107685800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:107671000-107672200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:107671000-107672200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:107671000-107672400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:107671000-107673000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:107671000-107675800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:107671200-107672200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:107671200-107672200	Enhancers	NH-A	brain
18	chr8:107671200-107672400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:107671200-107672400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:107671200-107672400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:107671200-107672400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr8:107671200-107672400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:107671200-107672400	Flanking Active TSS	Hela-S3	cervix
24	chr8:107671200-107672800	Enhancers	Fetal Heart	heart
25	chr8:107671200-107672800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:107671200-107673000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:107671200-107673000	Enhancers	Small Intestine	intestine
28	chr8:107671200-107673000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:107671200-107674200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:107671200-107674800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:107671200-107675800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:107671200-107675800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:107671200-107697200	Weak transcription	HSMM	muscle
34	chr8:107671400-107672200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:107671400-107672200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:107671400-107672200	Enhancers	Lung	lung
37	chr8:107671400-107672200	Flanking Active TSS	NHEK	skin
38	chr8:107671400-107672200	Enhancers	Osteobl	bone
39	chr8:107671400-107672400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:107671400-107672400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:107671400-107672400	Flanking Active TSS	Fetal Stomach	stomach
42	chr8:107671400-107672600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:107671400-107672600	Enhancers	Fetal Intestine Large	intestine
44	chr8:107671400-107672600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:107671400-107672600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr8:107671400-107672800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:107671400-107672800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:107671400-107672800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr8:107671400-107672800	Flanking Active TSS	GM12878-XiMat	blood
50	chr8:107671400-107673000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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