Variant report

Variant	rs59978283
Chromosome Location	chr8:9008144-9008145
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	SMC3	chr8:9006934-9009605	SK-N-SH	brain:	n/a	chr8:9009317-9009331
2	EGR1	chr8:9007980-9008306	GM12878	blood:	n/a	n/a
3	MYC	chr8:9008064-9009382	NB4	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
4	CTCF	chr8:9007971-9008610	K562	blood:	n/a	n/a
5	CCNT2	chr8:9007935-9009346	K562	blood:	n/a	chr8:9008814-9008823
6	TAF1	chr8:9007922-9008312	GM12878	blood:	n/a	n/a
7	YY1	chr8:9008068-9008455	H1-hESC	embryonic stem cell:	n/a	chr8:9008252-9008266
8	TAL1	chr8:9008056-9008680	K562	blood:	n/a	n/a
9	SIN3AK20	chr8:9007857-9008239	PANC-1	pancreas:	n/a	n/a
10	MAX	chr8:9007984-9009570	SK-N-SH	brain:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
11	MAFK	chr8:9008065-9008741	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr8:9007790-9008299	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBL1XR1	chr8:9007817-9008471	K562	blood:	n/a	n/a
14	RAD21	chr8:9007684-9009175	HCT-116	colon:	n/a	chr8:9008888-9008902
15	POLR2A	chr8:9007947-9009400	GM15510	blood:	n/a	n/a
16	POLR2A	chr8:9008020-9008280	SK-N-SH	brain:	n/a	n/a
17	ATF2	chr8:9007964-9008291	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:9007907-9008391	A549	lung:	n/a	n/a
19	FOS	chr8:9008076-9008395	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:9007890-9008249	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr8:9007978-9009156	K562	blood:	n/a	n/a
22	ELF1	chr8:9007885-9008465	GM12878	blood:	n/a	n/a
23	RCOR1	chr8:9008053-9008805	K562	blood:	n/a	n/a
24	EP300	chr8:9008055-9008494	H1-hESC	embryonic stem cell:	n/a	chr8:9008248-9008264 chr8:9008303-9008319 chr8:9008307-9008323 chr8:9008304-9008320
25	RCOR1	chr8:9007747-9008558	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr8:9008092-9008503	HepG2	liver:	n/a	n/a
27	ATF2	chr8:9008128-9008503	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZBTB7A	chr8:9007941-9008388	K562	blood:	n/a	n/a
29	PAX5	chr8:9007994-9008389	GM12892	blood:	n/a	chr8:9008314-9008323
30	ZMIZ1	chr8:9007997-9008440	K562	blood:	n/a	n/a
31	POLR2A	chr8:9007972-9008378	A549	lung:	n/a	n/a
32	SIN3AK20	chr8:9007808-9008435	PFSK-1	brain:	n/a	n/a
33	RCOR1	chr8:9007821-9008810	GM12878	blood:	n/a	n/a
34	CTCF	chr8:9008101-9008474	GM12892	blood:	n/a	n/a
35	CTCF	chr8:9008038-9008631	MCF-7	breast:	n/a	n/a
36	POLR2A	chr8:9007832-9008902	HL-60	blood:	n/a	n/a
37	SP1	chr8:9007982-9008588	A549	lung:	n/a	chr8:9008251-9008263 chr8:9008022-9008032 chr8:9008022-9008036 chr8:9008253-9008262 chr8:9008023-9008032 chr8:9008267-9008274 chr8:9008021-9008033
38	CTCF	chr8:9007987-9008525	A549	lung:	n/a	n/a
39	CHD1	chr8:9007788-9008688	GM12878	blood:	n/a	n/a
40	CTCF	chr8:9008070-9008509	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:9007916-9008309	A549	lung:	n/a	n/a
42	HMGN3	chr8:9007936-9009345	K562	blood:	n/a	n/a
43	MAX	chr8:9007923-9009478	K562	blood:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9009121-9009131 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635 chr8:9009221-9009230
44	CTCF	chr8:9008094-9008498	A549	lung:	n/a	n/a
45	POLR2A	chr8:9007835-9008727	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr8:9007939-9008509	SK-N-SH	brain:	n/a	n/a
47	STAT3	chr8:9007240-9008396	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr8:9008047-9008468	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:9007960-9008334	GM12878	blood:	n/a	n/a
50	RFX5	chr8:9007788-9008492	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8907031..8909289-chr8:9008104..9009866,2	K562	blood:
2	chr1:28907741..28908251-chr8:9007865..9008555,2	Hela-S3	cervix:
3	chr6:26216567..26217621-chr8:9007935..9009111,3	Hela-S3	cervix:
4	chr17:41464725..41467808-chr8:9007471..9010491,5	K562	blood:
5	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253426	TF binding region
ENSG00000239078	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10091950	1.00[AMR][1000 genomes]
rs10100756	1.00[AMR][1000 genomes]
rs10107835	1.00[AMR][1000 genomes]
rs10107838	1.00[AMR][1000 genomes]
rs10113601	1.00[AMR][1000 genomes]
rs28500648	1.00[AMR][1000 genomes]
rs28587309	1.00[AMR][1000 genomes]
rs28692621	1.00[AMR][1000 genomes]
rs34911286	1.00[AMR][1000 genomes]
rs57169303	1.00[AMR][1000 genomes]
rs59830293	1.00[AMR][1000 genomes]
rs60317720	1.00[AMR][1000 genomes]
rs61240251	1.00[AMR][1000 genomes]
rs73531356	1.00[AMR][1000 genomes]
rs73531363	1.00[AMR][1000 genomes]
rs73662280	1.00[AMR][1000 genomes]
rs73662281	1.00[AMR][1000 genomes]
rs73662282	1.00[AMR][1000 genomes]
rs73662283	1.00[AMR][1000 genomes]
rs73662284	1.00[AMR][1000 genomes]
rs73662285	1.00[AMR][1000 genomes]
rs73662287	1.00[AMR][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	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS 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	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr8:9005000-9008400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:9005600-9009600	Active TSS	Right Ventricle	heart
3	chr8:9006000-9008600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9006000-9009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:9006200-9008400	Active TSS	Fetal Intestine Large	intestine
6	chr8:9006200-9008400	Active TSS	NHLF	lung
7	chr8:9006200-9008600	Active TSS	Fetal Intestine Small	intestine
8	chr8:9006200-9008600	Active TSS	Stomach Mucosa	stomach
9	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:9006200-9009600	Active TSS	Right Atrium	heart
11	chr8:9006400-9008400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:9006400-9008400	Active TSS	Placenta	Placenta
13	chr8:9006400-9008400	Active TSS	HUVEC	blood vessel
14	chr8:9006400-9008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:9006400-9009200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:9006400-9009400	Active TSS	Aorta	Aorta
17	chr8:9006400-9009600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:9006400-9009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:9006400-9009600	Active TSS	Left Ventricle	heart
20	chr8:9006400-9009600	Active TSS	Psoas Muscle	Psoas
21	chr8:9006400-9010000	Active TSS	Liver	Liver
22	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:9006800-9008600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:9007000-9008200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:9007000-9008400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:9007000-9008600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:9007000-9008600	Active TSS	Lung	lung
28	chr8:9007000-9008600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr8:9007000-9008600	Active TSS	HSMM	muscle
30	chr8:9007000-9008600	Active TSS	NHDF-Ad	bronchial
31	chr8:9007000-9008800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr8:9007000-9009000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:9007000-9009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:9007000-9009600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:9007000-9009600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr8:9007000-9009600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:9007000-9009600	Active TSS	Brain Anterior Caudate	brain
38	chr8:9007000-9009600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:9007000-9009600	Active TSS	Ovary	ovary
40	chr8:9007000-9009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:9007000-9009800	Active TSS	Fetal Heart	heart
42	chr8:9007200-9009400	Active TSS	Brain Angular Gyrus	brain
43	chr8:9007200-9009400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:9007200-9009400	Active TSS	Gastric	stomach
45	chr8:9007200-9009600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:9007200-9009600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:9007200-9009600	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:9007200-9009600	Active TSS	Brain Substantia Nigra	brain

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