Variant report

Variant	rs10102554
Chromosome Location	chr8:9009253-9009254
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	USF2	chr8:9008987-9009399	Hela-S3	cervix:	n/a	chr8:9009220-9009231
2	SMC3	chr8:9006934-9009605	SK-N-SH	brain:	n/a	chr8:9009317-9009331
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	CCNT2	chr8:9007935-9009346	K562	blood:	n/a	chr8:9008814-9008823
5	NRF1	chr8:9009123-9009284	GM12878	blood:	n/a	n/a
6	SP1	chr8:9008959-9009416	GM12878	blood:	n/a	chr8:9009177-9009198 chr8:9009145-9009166
7	USF1	chr8:9008373-9009635	SK-N-SH	brain:	n/a	chr8:9008888-9008904
8	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
9	ZMIZ1	chr8:9009195-9009392	K562	blood:	n/a	n/a
10	USF1	chr8:9008909-9009442	SK-N-SH_RA	brain:	n/a	n/a
11	POLR2A	chr8:9007947-9009400	GM15510	blood:	n/a	n/a
12	USF1	chr8:9008991-9009337	K562	blood:	n/a	n/a
13	RAD21	chr8:9009037-9009513	SK-N-SH_RA	brain:	n/a	chr8:9009321-9009331
14	USF1	chr8:9008433-9009601	HCT-116	colon:	n/a	chr8:9008888-9008904
15	RCOR1	chr8:9008991-9009390	K562	blood:	n/a	n/a
16	RAD21	chr8:9009146-9009428	SK-N-SH_RA	brain:	n/a	chr8:9009321-9009331
17	POLR2A	chr8:9008550-9009441	SK-N-MC	brain:	n/a	n/a
18	USF1	chr8:9008231-9009681	ECC-1	luminal epithelium:	n/a	chr8:9008888-9008904
19	POLR2A	chr8:9008851-9009309	MCF-7	breast:	n/a	n/a
20	USF1	chr8:9008979-9009370	K562	blood:	n/a	n/a
21	SP1	chr8:9008809-9009418	A549	lung:	n/a	chr8:9009177-9009198 chr8:9009145-9009166
22	POLR2A	chr8:9008892-9009324	A549	lung:	n/a	n/a
23	USF1	chr8:9008904-9009480	SK-N-SH_RA	brain:	n/a	n/a
24	HMGN3	chr8:9007936-9009345	K562	blood:	n/a	n/a
25	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
26	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
27	POLR2A	chr8:9007474-9009360	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr8:9007747-9009278	Hela-S3	cervix:	n/a	chr8:9009222-9009231
29	CREB1	chr8:9007945-9009299	GM12878	blood:	n/a	n/a
30	CTCF	chr8:9009252-9009343	SK-N-SH_RA	brain:	n/a	n/a
31	POLR2A	chr8:9006933-9009601	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:9007869-9009326	HL-60	blood:	n/a	n/a
33	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
34	CTCF	chr8:9009240-9009390	BJ	skin:	n/a	n/a
35	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
36	MAX	chr8:9008060-9009451	MCF-7	breast:	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
37	MAX	chr8:9007810-9009621	HCT-116	colon:	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
38	E2F6	chr8:9008049-9009354	K562	blood:	n/a	chr8:9008256-9008266
39	E2F6	chr8:9009078-9009325	K562	blood:	n/a	n/a
40	CTCF	chr8:9007115-9009552	SK-N-SH	brain:	n/a	chr8:9008888-9008901 chr8:9007531-9007540 chr8:9008969-9008982
41	ELF1	chr8:9007872-9009310	GM12878	blood:	n/a	chr8:9008948-9008960
42	TAF1	chr8:9007720-9009536	ECC-1	luminal epithelium:	n/a	n/a
43	CHD1	chr8:9009245-9009394	GM12878	blood:	n/a	n/a
44	GATA2	chr8:9009048-9009581	SH-SY5Y	brain:	n/a	n/a
45	MAX	chr8:9007765-9009482	GM12878	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
46	USF1	chr8:9008465-9009460	SK-N-SH	brain:	n/a	chr8:9008888-9008904
47	CTCF	chr8:9009240-9009390	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr8:9009200-9009350	GM12875	blood:	n/a	n/a
49	MAX	chr8:9008055-9009403	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
50	USF1	chr8:9008892-9009350	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8907031..8909289-chr8:9008104..9009866,2	K562	blood:
2	chr17:41464725..41467808-chr8:9007471..9010491,5	K562	blood:

Variant related genes	Relation type
PPP1R3B	TF binding region
ENSG00000253426	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10092803	0.88[AFR][1000 genomes]
rs11993336	0.83[AFR][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:115 , 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	chr8:9006200-9009600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr8:9006200-9009600	Active TSS	Right Atrium	heart
4	chr8:9006400-9009400	Active TSS	Aorta	Aorta
5	chr8:9006400-9009600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:9006400-9009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:9006400-9009600	Active TSS	Left Ventricle	heart
8	chr8:9006400-9009600	Active TSS	Psoas Muscle	Psoas
9	chr8:9006400-9010000	Active TSS	Liver	Liver
10	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:9007000-9009600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:9007000-9009600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:9007000-9009600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr8:9007000-9009600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:9007000-9009600	Active TSS	Brain Anterior Caudate	brain
16	chr8:9007000-9009600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr8:9007000-9009600	Active TSS	Ovary	ovary
18	chr8:9007000-9009800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9007000-9009800	Active TSS	Fetal Heart	heart
20	chr8:9007200-9009400	Active TSS	Brain Angular Gyrus	brain
21	chr8:9007200-9009400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:9007200-9009400	Active TSS	Gastric	stomach
23	chr8:9007200-9009600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr8:9007200-9009600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:9007200-9009600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:9007200-9009600	Active TSS	Brain Cingulate Gyrus	brain
28	chr8:9007200-9009600	Active TSS	Brain Substantia Nigra	brain
29	chr8:9007200-9009600	Active TSS	Fetal Kidney	kidney
30	chr8:9007200-9009800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:9007400-9009400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:9007400-9009800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:9007600-9009400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:9007600-9009400	Active TSS	Colon Smooth Muscle	Colon
35	chr8:9007600-9009400	Active TSS	Fetal Lung	lung
36	chr8:9007600-9009400	Active TSS	Small Intestine	intestine
37	chr8:9007600-9009400	Active TSS	Thymus	Thymus
38	chr8:9007600-9009400	Active TSS	Spleen	Spleen
39	chr8:9007600-9009600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:9007600-9009600	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr8:9007600-9009600	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:9007800-9009400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr8:9007800-9009600	Active TSS	Primary T cells from cord blood	blood
44	chr8:9007800-9009600	Active TSS	Brain Hippocampus Middle	brain
45	chr8:9007800-9009600	Active TSS	Hela-S3	cervix
46	chr8:9007800-9009800	Active TSS	A549	lung
47	chr8:9008000-9009400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:9008000-9009400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr8:9008000-9009400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:9008000-9009600	Bivalent/Poised TSS	Fetal Stomach	stomach

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