Variant report

Variant	rs558884057
Chromosome Location	chr8:91657069-91657070
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	TBP	chr8:91656945-91657438	Hela-S3	cervix:	n/a	n/a
3	MYC	chr8:91656787-91658969	K562	blood:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
4	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
5	MAX	chr8:91656868-91659002	HCT-116	colon:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
6	NFIC	chr8:91657014-91657405	GM12878	blood:	n/a	n/a
7	RAD21	chr8:91657027-91657486	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
9	TBP	chr8:91656974-91658886	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:91657039-91658911	GM12878	blood:	n/a	n/a
11	UBTF	chr8:91657054-91659223	K562	blood:	n/a	n/a
12	POLR2A	chr8:91657043-91659045	K562	blood:	n/a	n/a
13	POLR2A	chr8:91657034-91658925	GM12892	blood:	n/a	n/a
14	CEBPB	chr8:91656481-91657412	Hela-S3	cervix:	n/a	chr8:91656851-91656862
15	JUND	chr8:91657014-91657585	H1-hESC	embryonic stem cell:	n/a	chr8:91657083-91657095
16	ZNF143	chr8:91657065-91657668	Hela-S3	cervix:	n/a	n/a
17	TEAD4	chr8:91656999-91657527	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
19	YY1	chr8:91657067-91657624	SK-N-SH_RA	brain:	n/a	n/a
20	MAX	chr8:91657024-91658950	ECC-1	luminal epithelium:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
21	FOXM1	chr8:91656936-91657607	GM12878	blood:	n/a	n/a
22	MAX	chr8:91657065-91658941	H1-hESC	embryonic stem cell:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
23	E2F6	chr8:91657053-91658996	H1-hESC	embryonic stem cell:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
24	SIN3AK20	chr8:91656302-91659215	MCF-7	breast:	n/a	n/a
25	MAX	chr8:91656946-91658977	A549	lung:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
26	SMC3	chr8:91657012-91657613	GM12878	blood:	n/a	n/a
27	TBP	chr8:91657013-91657422	GM12878	blood:	n/a	n/a
28	CTCF	chr8:91657022-91657494	K562	blood:	n/a	n/a
29	RAD21	chr8:91656990-91658084	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:91657039-91659110	K562	blood:	n/a	n/a
31	CTCF	chr8:91656988-91657995	A549	lung:	n/a	n/a
32	MAX	chr8:91657046-91658978	HepG2	liver:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
33	POLR2A	chr8:91657067-91659732	K562	blood:	n/a	n/a
34	CREB1	chr8:91657051-91658857	HepG2	liver:	n/a	n/a
35	MXI1	chr8:91656987-91657670	H1-hESC	embryonic stem cell:	n/a	n/a
36	GATA1	chr8:91656986-91657922	PBDE	blood:	n/a	chr8:91657120-91657141 chr8:91657254-91657261
37	GTF2F1	chr8:91657036-91657648	K562	blood:	n/a	n/a
38	NFATC1	chr8:91656976-91657445	GM12878	blood:	n/a	n/a
39	JUND	chr8:91656948-91658885	MCF-7	breast:	n/a	chr8:91657083-91657095
40	RAD21	chr8:91657064-91657823	H1-hESC	embryonic stem cell:	n/a	n/a
41	PML	chr8:91657032-91658954	MCF-7	breast:	n/a	n/a
42	REST	chr8:91656795-91658865	MCF-7	breast:	n/a	n/a
43	MAFK	chr8:91656465-91657397	IMR90	lung:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
44	TBL1XR1	chr8:91656829-91657817	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:91656902-91658983	Raji	blood:	n/a	n/a
46	CTCF	chr8:91657041-91657597	K562	blood:	n/a	n/a
47	EP300	chr8:91657065-91657956	GM12878	blood:	n/a	n/a
48	TEAD4	chr8:91656963-91657541	K562	blood:	n/a	n/a
49	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:91656958-91657588	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:
3	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
4	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
5	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
6	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
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	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
13	chr8:91656709..91659502-chr8:92055238..92057822,3	K562	blood:
14	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000141371	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91643200-91657200	Weak transcription	Gastric	stomach
2	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
15	chr8:91655200-91658800	Active TSS	K562	blood
16	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
17	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
19	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
21	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:91655600-91657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:91655600-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
29	chr8:91655600-91658600	Active TSS	HMEC	breast
30	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
31	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:91655600-91659000	Active TSS	HSMM	muscle
33	chr8:91655600-91659000	Active TSS	NHLF	lung
34	chr8:91655800-91657200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr8:91655800-91657200	Weak transcription	Spleen	Spleen
36	chr8:91655800-91657400	Active TSS	Placenta	Placenta
37	chr8:91655800-91657400	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:91655800-91658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:91655800-91658800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:91655800-91658800	Active TSS	Fetal Muscle Leg	muscle
41	chr8:91655800-91659000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:91655800-91659000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:91655800-91659000	Active TSS	Psoas Muscle	Psoas
44	chr8:91655800-91659200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:91656000-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:91656000-91657400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr8:91656000-91657400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:91656000-91657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:91656000-91657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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