Variant report

Variant	rs74306235
Chromosome Location	chr8:90913566-90913567
allele	G/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	SP1	chr8:90913251-90914932	A549	lung:	n/a	chr8:90914762-90914771 chr8:90914227-90914239 chr8:90914752-90914761 chr8:90914752-90914761 chr8:90914227-90914239 chr8:90914761-90914773 chr8:90914762-90914776 chr8:90914097-90914106 chr8:90914228-90914238 chr8:90914761-90914773 chr8:90914751-90914763 chr8:90914095-90914106 chr8:90914753-90914762
2	SIN3AK20	chr8:90913437-90915573	MCF-7	breast:	n/a	n/a
3	MXI1	chr8:90913464-90915946	SK-N-SH	brain:	n/a	n/a
4	MAX	chr8:90912833-90913800	A549	lung:	n/a	n/a
5	TCF12	chr8:90912920-90915063	A549	lung:	n/a	chr8:90914702-90914709
6	GATA3	chr8:90913518-90914959	A549	lung:	n/a	chr8:90914769-90914778
7	CEBPB	chr8:90913531-90914204	IMR90	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
8	CEBPB	chr8:90913362-90914219	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
9	MAX	chr8:90913167-90913590	A549	lung:	n/a	n/a
10	CEBPB	chr8:90913548-90914246	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
11	MAX	chr8:90912888-90915495	MCF-7	breast:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
12	FOSL2	chr8:90913521-90914503	A549	lung:	n/a	n/a
13	POLR2A	chr8:90913421-90915436	K562	blood:	n/a	n/a
14	SIX5	chr8:90913500-90914408	A549	lung:	n/a	n/a
15	TAF1	chr8:90913133-90913697	A549	lung:	n/a	n/a
16	CEBPB	chr8:90913422-90914387	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
17	CEBPB	chr8:90913353-90914461	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
18	CEBPB	chr8:90913240-90914948	MCF-7	breast:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
19	HA-E2F1	chr8:90912833-90915523	MCF-7	breast:	n/a	chr8:90914540-90914549 chr8:90914800-90914810 chr8:90914874-90914884 chr8:90914760-90914769
20	SIN3AK20	chr8:90912996-90915794	MCF-7	breast:	n/a	n/a
21	HDAC2	chr8:90913295-90915500	MCF-7	breast:	n/a	chr8:90913650-90913664
22	CEBPB	chr8:90913549-90914547	H1-hESC	embryonic stem cell:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
23	CEBPB	chr8:90913517-90914251	K562	blood:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
24	BCL3	chr8:90913483-90914732	A549	lung:	n/a	chr8:90914691-90914704 chr8:90914619-90914632 chr8:90914690-90914703 chr8:90914538-90914547
25	CEBPB	chr8:90913532-90914309	A549	lung:	n/a	chr8:90913700-90913711 chr8:90914018-90914029 chr8:90913819-90913830 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913698-90913711 chr8:90913700-90913711
26	GATA3	chr8:90913120-90914927	MCF-7	breast:	n/a	chr8:90914769-90914778
27	POLR2A	chr8:90912966-90914625	A549	lung:	n/a	n/a
28	MAX	chr8:90912861-90915548	A549	lung:	n/a	chr8:90914898-90914908 chr8:90915180-90915190
29	SRF	chr8:90913145-90914915	MCF-7	breast:	n/a	chr8:90914647-90914657
30	ZNF217	chr8:90913342-90914323	MCF-7	breast:	n/a	n/a
31	POLR2A	chr8:90913406-90916870	K562	blood:	n/a	n/a
32	NR2F2	chr8:90912896-90915509	MCF-7	breast:	n/a	n/a
33	JUND	chr8:90913410-90915267	MCF-7	breast:	n/a	chr8:90914754-90914763
34	SP1	chr8:90913048-90913723	A549	lung:	n/a	n/a
35	REST	chr8:90913025-90914787	A549	lung:	n/a	chr8:90914544-90914554 chr8:90914753-90914766 chr8:90914548-90914561
36	SRF	chr8:90913264-90915319	MCF-7	breast:	n/a	chr8:90914647-90914657

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:90913525-90913575	AG09319	gingival:	n/a
2	chr8:90913525-90913575	MCF10A-Er-Src	breast:	n/a
3	chr8:90913525-90913575	ovcar-3	ovarian:	n/a
4	chr8:90913525-90913575	AoSMC	blood vessel:	n/a
5	chr8:90913525-90913575	HPAEpiC	pulmonary alveolar:	n/a
6	chr8:90913525-90913575	CMK	blood:	n/a
7	chr8:90913525-90913575	GM12891	blood:	n/a
8	chr8:90913525-90913575	HAEpiC	amniotic membrane:	n/a
9	chr8:90913525-90913575	HepG2	liver:	n/a
10	chr8:90913525-90913575	NB4	blood:	n/a
11	chr8:90913525-90913575	Caco-2	colon:	n/a
12	chr8:90913525-90913575	AG04449	skin:	fetal
13	chr8:90913525-90913575	HL-60	blood:	n/a
14	chr8:90913525-90913575	SK-N-SH	brain:	n/a
15	chr8:90913525-90913575	K562	blood:	n/a
16	chr8:90913525-90913575	PrEC	prostate:	n/a
17	chr8:90913525-90913575	NH-A	brain:	n/a
18	chr8:90913525-90913575	LNCaP	prostate:	n/a
19	chr8:90913525-90913575	NT2-D1	testis:	n/a
20	chr8:90913525-90913575	HRE	kidney:	n/a
21	chr8:90913525-90913575	GM12892	blood:	n/a
22	chr8:90913525-90913575	HCPEpiC	choroid plexus:	n/a
23	chr8:90913525-90913575	HCT-116	colon:	n/a
24	chr8:90913525-90913575	ECC-1	luminal epithelium:	n/a
25	chr8:90913525-90913575	SK-N-MC	brain:	n/a
26	chr8:90913525-90913575	SKMC	muscle:	n/a
27	chr8:90913525-90913575	HCM	heart:	n/a
28	chr8:90913525-90913575	HRPEpiC	eye:	n/a
29	chr8:90913525-90913575	Hepatocyte	liver:	n/a
30	chr8:90913525-90913575	BE2_C	brain:	n/a
31	chr8:90913525-90913575	H1-hESC	embryonic stem cell:	embryo
32	chr8:90913525-90913575	MCF-7	breast:	n/a
33	chr8:90913525-90913575	SK-N-SH_RA	brain:	n/a
34	chr8:90913525-90913575	HIPEpiC	eye:	n/a
35	chr8:90913525-90913575	BJ	skin:	n/a
36	chr8:90913525-90913575	HNPCEpiC	eye:	n/a
37	chr8:90913525-90913575	AG10803	skin:	n/a
38	chr8:90913525-90913575	NHDF-neo	bronchial:	n/a
39	chr8:90913525-90913575	T-47D	breast:	n/a
40	chr8:90913525-90913575	RPTEC	kidney:	n/a
41	chr8:90913525-90913575	HEEpiC	esophagus:	n/a
42	chr8:90913525-90913575	HMEC	breast:	n/a
43	chr8:90913525-90913575	ProgFib	skin:	n/a
44	chr8:90913525-90913575	GM06990	blood:	n/a
45	chr8:90913525-90913575	GM12878	blood:	n/a
46	chr8:90913525-90913575	Jurkat	blood:	n/a
47	chr8:90913525-90913575	U87	brain:	n/a
48	chr8:90913525-90913575	SAEC	small airway:	n/a
49	chr8:90913525-90913575	NHBE	bronchial:	n/a
50	chr8:90913525-90913575	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr8:90913376..90915525-chr8:90949213..90951083,2	K562	blood:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90913376..90915361-chr8:90949165..90951083,2	K562	blood:
4	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
5	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
6	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
7	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
8	chr8:90913046..90917912-chr8:90949306..90952418,7	MCF-7	breast:
9	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
10	chr8:90913489..90916241-chr8:91996581..91998462,2	K562	blood:
11	chr8:90912518..90915342-chr8:90946692..90950309,3	MCF-7	breast:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:

Variant related genes	Relation type
RNU6-925P	TF binding region
OSGIN2	TF binding region
RNU6-925P	CpG island
OSGIN2	CpG island
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3371037	chr8:90912579-90917077	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90895200-90913800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:90895600-90913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:90897600-90914000	Weak transcription	Gastric	stomach
4	chr8:90899200-90913800	Weak transcription	Thymus	Thymus
5	chr8:90899400-90913800	Weak transcription	Small Intestine	intestine
6	chr8:90899800-90913600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:90900600-90913800	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:90900800-90913600	Weak transcription	Fetal Lung	lung
9	chr8:90900800-90913800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:90900800-90913800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:90902400-90913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:90902400-90913800	Weak transcription	NHLF	lung
13	chr8:90902600-90913600	Weak transcription	HepG2	liver
14	chr8:90904800-90914000	Weak transcription	Left Ventricle	heart
15	chr8:90905000-90913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:90905000-90913800	Weak transcription	Right Ventricle	heart
17	chr8:90905000-90914000	Weak transcription	Esophagus	oesophagus
18	chr8:90905000-90914000	Weak transcription	Lung	lung
19	chr8:90905600-90913600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:90905600-90913600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:90905800-90913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:90905800-90913600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:90905800-90913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:90905800-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:90906000-90913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:90906000-90913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:90906200-90913600	Weak transcription	Primary T cells from cord blood	blood
28	chr8:90906200-90914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:90906200-90914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:90906200-90914000	Weak transcription	Spleen	Spleen
31	chr8:90906400-90913600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:90906400-90913800	Weak transcription	Fetal Stomach	stomach
33	chr8:90908400-90913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:90909200-90913800	Weak transcription	NH-A	brain
35	chr8:90909400-90913600	Weak transcription	HMEC	breast
36	chr8:90910000-90913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:90910000-90913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:90910000-90913800	Weak transcription	Osteobl	bone
39	chr8:90910200-90913600	Weak transcription	HUVEC	blood vessel
40	chr8:90910200-90913800	Weak transcription	NHDF-Ad	bronchial
41	chr8:90910600-90913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:90911600-90913600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:90911600-90913800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:90911800-90913600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:90912400-90913800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:90912600-90913600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:90912600-90913600	Weak transcription	Fetal Heart	heart
48	chr8:90912600-90913600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:90912800-90916200	Active TSS	A549	lung
50	chr8:90913200-90913600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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