Variant report

Variant	rs545600360
Chromosome Location	chr8:91657449-91657450
allele	C/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	HA-E2F1	chr8:91656996-91659767	MCF-7	breast:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
2	MYC	chr8:91657368-91658706	MCF-7	breast:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
3	POLR2A	chr8:91657103-91658971	GM18526	blood:	n/a	n/a
4	MYC	chr8:91656787-91658969	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
5	TCF7L2	chr8:91657148-91657701	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
7	MAX	chr8:91656868-91659002	HCT-116	colon:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
8	ZBTB7A	chr8:91657205-91657852	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr8:91657174-91658845	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr8:91657100-91660085	K562	blood:	n/a	n/a
11	RAD21	chr8:91657027-91657486	SK-N-SH_RA	brain:	n/a	n/a
12	MYC	chr8:91657078-91659030	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
13	TAF7	chr8:91657123-91657850	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr8:91657081-91657644	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr8:91657115-91659204	GM12878	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
16	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:91657168-91658960	GM12878	blood:	n/a	n/a
18	TBP	chr8:91656974-91658886	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:91657039-91658911	GM12878	blood:	n/a	n/a
20	UBTF	chr8:91657054-91659223	K562	blood:	n/a	n/a
21	POLR2A	chr8:91657043-91659045	K562	blood:	n/a	n/a
22	POLR2A	chr8:91657034-91658925	GM12892	blood:	n/a	n/a
23	STAT1	chr8:91657183-91657516	GM12878	blood:	n/a	n/a
24	JUND	chr8:91657014-91657585	H1-hESC	embryonic stem cell:	n/a	chr8:91657083-91657095
25	CTBP2	chr8:91657076-91659297	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr8:91657065-91657668	Hela-S3	cervix:	n/a	n/a
27	MAX	chr8:91657206-91658915	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
28	ETS1	chr8:91657387-91658953	K562	blood:	n/a	chr8:91658375-91658386
29	E2F4	chr8:91657252-91658850	K562	blood:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
30	BACH1	chr8:91657213-91657663	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:91657283-91657866	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr8:91657090-91657500	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF2	chr8:91657104-91657462	Hela-S3	cervix:	n/a	n/a
34	TEAD4	chr8:91656999-91657527	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
36	E2F6	chr8:91657308-91658890	K562	blood:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
37	YY1	chr8:91657067-91657624	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr8:91657225-91658834	GM12878	blood:	n/a	n/a
39	RAD21	chr8:91657122-91657465	HepG2	liver:	n/a	n/a
40	MAX	chr8:91657024-91658950	ECC-1	luminal epithelium:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
41	CTCF	chr8:91657159-91657653	Fibrobl	skin:	n/a	n/a
42	FOXM1	chr8:91656936-91657607	GM12878	blood:	n/a	n/a
43	TAF1	chr8:91657107-91657495	K562	blood:	n/a	n/a
44	MAX	chr8:91657065-91658941	H1-hESC	embryonic stem cell:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
45	BCLAF1	chr8:91657082-91657848	GM12878	blood:	n/a	n/a
46	E2F6	chr8:91657053-91658996	H1-hESC	embryonic stem cell:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
47	SIN3AK20	chr8:91656302-91659215	MCF-7	breast:	n/a	n/a
48	MAX	chr8:91656946-91658977	A549	lung:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
49	SMC3	chr8:91657012-91657613	GM12878	blood:	n/a	n/a
50	MAX	chr8:91657161-91658870	H1-hESC	embryonic stem cell:	n/a	chr8:91658375-91658385 chr8:91658472-91658481

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
3	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
4	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
5	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
6	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
7	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
8	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
9	chr17:58468866..58470563-chr8:91656695..91658244,2	MCF-7	breast:
10	chr8:91656974..91659329-chr8:91869981..91872238,2	MCF-7	breast:
11	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
12	chr8:90914455..90916377-chr8:91657322..91659594,2	K562	blood:
13	chr11:95656942..95657484-chr8:91657233..91658084,2	Hela-S3	cervix:
14	chr6:30709563..30710317-chr8:91657123..91658008,2	Hela-S3	cervix:
15	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
16	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
17	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000087053	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
2	esv3379954	chr8:91657026-91659374	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
13	chr8:91655200-91658800	Active TSS	K562	blood
14	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
15	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
17	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
23	chr8:91655600-91658600	Active TSS	HMEC	breast
24	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
25	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:91655600-91659000	Active TSS	HSMM	muscle
27	chr8:91655600-91659000	Active TSS	NHLF	lung
28	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
31	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas
34	chr8:91655800-91659200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:91656000-91657800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr8:91656000-91657800	Flanking Active TSS	Liver	Liver
37	chr8:91656000-91657800	Active TSS	Fetal Heart	heart
38	chr8:91656000-91657800	Active TSS	Right Atrium	heart
39	chr8:91656000-91658800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:91656000-91658800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:91656000-91658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:91656000-91658800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr8:91656000-91658800	Active TSS	Fetal Intestine Small	intestine
44	chr8:91656000-91659000	Active TSS	Aorta	Aorta
45	chr8:91656000-91659000	Active TSS	Ovary	ovary
46	chr8:91656200-91657600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr8:91656200-91658600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr8:91656200-91658800	Active TSS	Fetal Lung	lung
49	chr8:91656400-91657600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr8:91656400-91658600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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