Variant report

Variant	rs563835222
Chromosome Location	chr8:9008498-9008499
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	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
3	CTCF	chr8:9007971-9008610	K562	blood:	n/a	n/a
4	CCNT2	chr8:9007935-9009346	K562	blood:	n/a	chr8:9008814-9008823
5	USF1	chr8:9008373-9009635	SK-N-SH	brain:	n/a	chr8:9008888-9008904
6	TAL1	chr8:9008056-9008680	K562	blood:	n/a	n/a
7	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
8	MAFK	chr8:9008065-9008741	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr8:9007684-9009175	HCT-116	colon:	n/a	chr8:9008888-9008902
10	POLR2A	chr8:9007947-9009400	GM15510	blood:	n/a	n/a
11	USF1	chr8:9008173-9008743	A549	lung:	n/a	n/a
12	USF1	chr8:9008433-9009601	HCT-116	colon:	n/a	chr8:9008888-9008904
13	CBX3	chr8:9007978-9009156	K562	blood:	n/a	n/a
14	RCOR1	chr8:9008053-9008805	K562	blood:	n/a	n/a
15	RCOR1	chr8:9007747-9008558	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr8:9008092-9008503	HepG2	liver:	n/a	n/a
17	ATF2	chr8:9008128-9008503	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr8:9008231-9009681	ECC-1	luminal epithelium:	n/a	chr8:9008888-9008904
19	RCOR1	chr8:9007821-9008810	GM12878	blood:	n/a	n/a
20	CTCF	chr8:9008038-9008631	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:9007832-9008902	HL-60	blood:	n/a	n/a
22	USF1	chr8:9008367-9008867	H1-hESC	embryonic stem cell:	n/a	n/a
23	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
24	CTCF	chr8:9007987-9008525	A549	lung:	n/a	n/a
25	CHD1	chr8:9007788-9008688	GM12878	blood:	n/a	n/a
26	CTCF	chr8:9008070-9008509	HepG2	liver:	n/a	n/a
27	HMGN3	chr8:9007936-9009345	K562	blood:	n/a	n/a
28	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
29	CTCF	chr8:9008094-9008498	A549	lung:	n/a	n/a
30	POLR2A	chr8:9007835-9008727	Hela-S3	cervix:	n/a	n/a
31	MAX	chr8:9008171-9008834	H1-hESC	embryonic stem cell:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635
32	SIN3AK20	chr8:9007939-9008509	SK-N-SH	brain:	n/a	n/a
33	MYC	chr8:9008262-9008756	H1-hESC	embryonic stem cell:	n/a	chr8:9008625-9008636 chr8:9008627-9008634 chr8:9008624-9008639 chr8:9008624-9008634 chr8:9008626-9008636 chr8:9008628-9008637 chr8:9008626-9008635
34	MYC	chr8:9007871-9009385	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
35	GTF2F1	chr8:9008015-9008882	K562	blood:	n/a	n/a
36	ELK1	chr8:9008051-9008731	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr8:9007771-9008779	HCT-116	colon:	n/a	n/a
38	POLR2A	chr8:9007474-9009360	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr8:9007747-9009278	Hela-S3	cervix:	n/a	chr8:9009222-9009231
40	CREB1	chr8:9007945-9009299	GM12878	blood:	n/a	n/a
41	CTCF	chr8:9007985-9008659	IMR90	lung:	n/a	n/a
42	RAD21	chr8:9008094-9008707	GM12878	blood:	n/a	n/a
43	RAD21	chr8:9007610-9008939	IMR90	lung:	n/a	chr8:9008888-9008902
44	POLR2A	chr8:9006933-9009601	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT1	chr8:9008001-9008989	GM12878	blood:	n/a	chr8:9008191-9008202 chr8:9008815-9008827
46	RAD21	chr8:9007853-9008733	A549	lung:	n/a	n/a
47	POLR2A	chr8:9007869-9009326	HL-60	blood:	n/a	n/a
48	RAD21	chr8:9007923-9008734	A549	lung:	n/a	n/a
49	MAX	chr8:9007808-9009388	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
50	MYC	chr8:9007850-9009401	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

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:
6	chr8:8887010..8887803-chr8:9008211..9008746,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R3B	TF binding region
ENSG00000253426	TF binding region
ENSG00000187990	Chromatin interaction
ENSG00000239078	Chromatin interaction
ENSG00000104626	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000168274	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	chr8:9005600-9009600	Active TSS	Right Ventricle	heart
2	chr8:9006000-9008600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9006000-9009000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9006200-9008600	Active TSS	Fetal Intestine Small	intestine
5	chr8:9006200-9008600	Active TSS	Stomach Mucosa	stomach
6	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:9006200-9009600	Active TSS	Right Atrium	heart
8	chr8:9006400-9008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:9006400-9009200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:9006400-9009400	Active TSS	Aorta	Aorta
11	chr8:9006400-9009600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:9006400-9009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:9006400-9009600	Active TSS	Left Ventricle	heart
14	chr8:9006400-9009600	Active TSS	Psoas Muscle	Psoas
15	chr8:9006400-9010000	Active TSS	Liver	Liver
16	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:9006800-9008600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:9007000-9008600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:9007000-9008600	Active TSS	Lung	lung
20	chr8:9007000-9008600	Active TSS	Placenta Amnion	Placenta Amnion
21	chr8:9007000-9008600	Active TSS	HSMM	muscle
22	chr8:9007000-9008600	Active TSS	NHDF-Ad	bronchial
23	chr8:9007000-9008800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:9007000-9009000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr8:9007000-9009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:9007000-9009600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:9007000-9009600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:9007000-9009600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:9007000-9009600	Active TSS	Brain Anterior Caudate	brain
30	chr8:9007000-9009600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:9007000-9009600	Active TSS	Ovary	ovary
32	chr8:9007000-9009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:9007000-9009800	Active TSS	Fetal Heart	heart
34	chr8:9007200-9009400	Active TSS	Brain Angular Gyrus	brain
35	chr8:9007200-9009400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:9007200-9009400	Active TSS	Gastric	stomach
37	chr8:9007200-9009600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:9007200-9009600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:9007200-9009600	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:9007200-9009600	Active TSS	Brain Substantia Nigra	brain
43	chr8:9007200-9009600	Active TSS	Fetal Kidney	kidney
44	chr8:9007200-9009800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:9007400-9008800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr8:9007400-9009400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:9007400-9009800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr8:9007600-9008600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:9007600-9008600	Active TSS	Pancreas	Pancrea
50	chr8:9007600-9008600	Active TSS	Rectal Mucosa Donor 31	rectum

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