Variant report

Variant	rs527839934
Chromosome Location	chr8:86088931-86088932
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	E2F6	chr8:86088927-86089507	A549	lung:	n/a	n/a
2	MXI1	chr8:86088621-86091242	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:86088793-86090419	K562	blood:	n/a	n/a
4	HA-E2F1	chr8:86088931-86090472	MCF-7	breast:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
5	POLR2A	chr8:86088898-86091652	HepG2	liver:	n/a	n/a
6	E2F6	chr8:86088793-86090366	K562	blood:	n/a	chr8:86089551-86089560 chr8:86089600-86089610 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908
7	POLR2A	chr8:86088884-86089665	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr8:86088804-86091163	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:86088769-86090358	K562	blood:	n/a	n/a
10	RELA	chr8:86088906-86090346	GM19099	blood:	n/a	n/a
11	ZNF263	chr8:86088923-86089412	HEK293-T-REx	kidney:	n/a	chr8:86089276-86089285 chr8:86089296-86089305 chr8:86089185-86089194 chr8:86089171-86089192 chr8:86089279-86089288
12	POLR2A	chr8:86088799-86089646	PANC-1	pancreas:	n/a	n/a
13	BCLAF1	chr8:86088901-86090353	GM12878	blood:	n/a	chr8:86089457-86089466 chr8:86089592-86089605 chr8:86089331-86089344 chr8:86089346-86089355 chr8:86089940-86089949
14	POLR2A	chr8:86088678-86089704	SK-N-MC	brain:	n/a	n/a
15	MYC	chr8:86088780-86090644	K562	blood:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
16	MAZ	chr8:86088907-86090251	GM12878	blood:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
17	MAX	chr8:86088807-86091179	NB4	blood:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
18	SIN3AK20	chr8:86088805-86090612	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:86088894-86090642	IMR90	lung:	n/a	n/a
20	MAX	chr8:86088833-86090571	A549	lung:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
21	MXI1	chr8:86088807-86090923	IMR90	lung:	n/a	n/a
22	MAX	chr8:86088905-86090512	H1-hESC	embryonic stem cell:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
23	PML	chr8:86088721-86090511	GM12878	blood:	n/a	n/a
24	CHD1	chr8:86088834-86089581	H1-hESC	embryonic stem cell:	n/a	chr8:86089405-86089415
25	BHLHE40	chr8:86088874-86089484	K562	blood:	n/a	n/a
26	POLR2A	chr8:86088918-86090374	HCT-116	colon:	n/a	n/a
27	RELA	chr8:86088783-86091039	GM10847	blood:	n/a	n/a
28	ZNF384	chr8:86088927-86089319	K562	blood:	n/a	n/a
29	ATF2	chr8:86088813-86089133	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr8:86088780-86090867	HCT-116	colon:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
31	MAX	chr8:86088930-86090509	HepG2	liver:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
32	POLR2A	chr8:86088921-86090358	GM12892	blood:	n/a	n/a
33	SP1	chr8:86088880-86089467	A549	lung:	n/a	chr8:86089404-86089418 chr8:86089455-86089467 chr8:86089455-86089466 chr8:86089273-86089287 chr8:86089405-86089414 chr8:86089403-86089414 chr8:86089403-86089415 chr8:86089456-86089465 chr8:86089403-86089415 chr8:86089369-86089380 chr8:86089452-86089466 chr8:86089404-86089414 chr8:86089455-86089467
34	MAX	chr8:86088705-86090347	K562	blood:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
35	CBX3	chr8:86088854-86089428	K562	blood:	n/a	n/a
36	POLR2A	chr8:86088890-86089456	GM12878	blood:	n/a	n/a
37	CBX3	chr8:86088903-86090404	HCT-116	colon:	n/a	n/a
38	POLR2A	chr8:86088588-86091108	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXM1	chr8:86088842-86090351	GM12878	blood:	n/a	n/a
40	MAX	chr8:86088923-86090501	MCF-7	breast:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
41	MYBL2	chr8:86088879-86089579	HepG2	liver:	n/a	n/a
42	MXI1	chr8:86088893-86090430	GM12878	blood:	n/a	n/a
43	MAZ	chr8:86088897-86090291	HepG2	liver:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
44	HDAC2	chr8:86088836-86089696	MCF-7	breast:	n/a	chr8:86089178-86089192 chr8:86089156-86089170 chr8:86089181-86089195
45	MAFF	chr8:86088855-86089323	HepG2	liver:	n/a	n/a
46	POLR2A	chr8:86088846-86089575	SK-N-SH	brain:	n/a	n/a
47	MAX	chr8:86088699-86090588	A549	lung:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
48	STAT3	chr8:86088921-86089037	MCF10A-Er-Src	breast:	n/a	n/a
49	TEAD4	chr8:86088811-86089439	K562	blood:	n/a	n/a
50	MAX	chr8:86088926-86090478	ECC-1	luminal epithelium:	n/a	chr8:86089407-86089417 chr8:86090163-86090172

No.	Distal block	Cell Line	Cell type
1	chr8:86088170..86090782-chr8:86116952..86119231,3	MCF-7	breast:
2	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:
3	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
4	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:
5	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
6	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
7	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
8	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf59-2	chr8:86088034-86089297	ENSG00000260493.1

Variant related genes	Relation type
E2F5	TF binding region
ENSG00000185015	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
4	esv3401841	chr8:86088225-86091073	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86087000-86089000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:86087600-86089000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:86088600-86089000	Flanking Active TSS	A549	lung
4	chr8:86088600-86089200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:86088600-86089200	Flanking Active TSS	Dnd41	blood
6	chr8:86088600-86089200	Flanking Active TSS	GM12878-XiMat	blood
7	chr8:86088600-86089200	Flanking Active TSS	K562	blood
8	chr8:86088600-86089400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:86088600-86090400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:86088600-86090600	Active TSS	Fetal Brain Female	brain
11	chr8:86088600-86090800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:86088600-86090800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr8:86088600-86090800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:86088600-86091000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:86088600-86091000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:86088600-86091600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:86088800-86089000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:86088800-86089000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:86088800-86089000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:86088800-86089000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:86088800-86089000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:86088800-86089000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:86088800-86089000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:86088800-86089000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:86088800-86089000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:86088800-86089000	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr8:86088800-86089000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr8:86088800-86089000	Enhancers	Right Ventricle	heart
29	chr8:86088800-86089000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:86088800-86089000	Flanking Active TSS	Thymus	Thymus
31	chr8:86088800-86089000	Flanking Active TSS	HepG2	liver
32	chr8:86088800-86089000	Flanking Active TSS	NHEK	skin
33	chr8:86088800-86089200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:86088800-86089200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:86088800-86089200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:86088800-86089200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:86088800-86089200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:86088800-86089200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:86088800-86089200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:86088800-86089200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:86088800-86089200	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr8:86088800-86089200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr8:86088800-86089200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:86088800-86089200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr8:86088800-86089200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:86088800-86089200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:86088800-86089200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:86088800-86089200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr8:86088800-86089200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:86088800-86089200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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