Variant report

Variant	rs548909617
Chromosome Location	chr8:86089197-86089198
allele	A/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	E2F6	chr8:86088927-86089507	A549	lung:	n/a	n/a
2	CREB1	chr8:86089039-86089646	K562	blood:	n/a	n/a
3	POLR2A	chr8:86088981-86091052	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:86089043-86089563	K562	blood:	n/a	n/a
5	CTCF	chr8:86089120-86089270	NHEK	skin:	n/a	n/a
6	POLR2A	chr8:86089168-86089507	Gliobla	brain:	n/a	n/a
7	E2F6	chr8:86088987-86089714	H1-hESC	embryonic stem cell:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089600-86089610
8	REST	chr8:86088960-86090525	H1-neurons	neurons:	n/a	n/a
9	SP1	chr8:86088933-86089619	A549	lung:	n/a	chr8:86089404-86089418 chr8:86089595-86089607 chr8:86089455-86089467 chr8:86089455-86089466 chr8:86089273-86089287 chr8:86089597-86089606 chr8:86089405-86089414 chr8:86089403-86089414 chr8:86089403-86089415 chr8:86089456-86089465 chr8:86089403-86089415 chr8:86089595-86089607 chr8:86089369-86089380 chr8:86089452-86089466 chr8:86089404-86089414 chr8:86089455-86089467
10	POLR2A	chr8:86089060-86090384	GM15510	blood:	n/a	n/a
11	HEY1	chr8:86088962-86090357	HepG2	liver:	n/a	chr8:86089563-86089578
12	EBF1	chr8:86089078-86089402	GM12878	blood:	n/a	n/a
13	MXI1	chr8:86088621-86091242	SK-N-SH	brain:	n/a	n/a
14	MYC	chr8:86089067-86089532	MCF10A-Er-Src	breast:	n/a	chr8:86089407-86089417
15	POLR2A	chr8:86088793-86090419	K562	blood:	n/a	n/a
16	MTA3	chr8:86088970-86091300	GM12878	blood:	n/a	n/a
17	EP300	chr8:86089007-86089576	GM12878	blood:	n/a	chr8:86089180-86089194 chr8:86089332-86089341 chr8:86089542-86089558
18	SIN3AK20	chr8:86089165-86089591	PFSK-1	brain:	n/a	n/a
19	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
20	POLR2A	chr8:86088898-86091652	HepG2	liver:	n/a	n/a
21	CREB1	chr8:86089035-86089637	K562	blood:	n/a	n/a
22	CUX1	chr8:86089065-86089225	K562	blood:	n/a	n/a
23	E2F6	chr8:86089172-86090334	Hela-S3	cervix:	n/a	chr8:86089551-86089560 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908 chr8:86089600-86089610
24	YY1	chr8:86089145-86089503	HCT-116	colon:	n/a	chr8:86089335-86089344 chr8:86089403-86089414 chr8:86089453-86089467
25	MAX	chr8:86089018-86089590	K562	blood:	n/a	chr8:86089407-86089417
26	E2F6	chr8:86088793-86090366	K562	blood:	n/a	chr8:86089551-86089560 chr8:86089600-86089610 chr8:86089596-86089605 chr8:86089551-86089563 chr8:86089899-86089908
27	FOXP2	chr8:86089011-86089576	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr8:86089033-86090553	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:86089050-86090297	NB4	blood:	n/a	n/a
30	MAX	chr8:86089028-86089589	MCF-7	breast:	n/a	chr8:86089407-86089417
31	CTCF	chr8:86089060-86089210	AG10803	skin:	n/a	n/a
32	NFIC	chr8:86089069-86089554	HepG2	liver:	n/a	n/a
33	RELA	chr8:86088967-86090277	GM19193	blood:	n/a	n/a
34	SIN3AK20	chr8:86089143-86089588	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr8:86088884-86089665	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr8:86088804-86091163	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:86088769-86090358	K562	blood:	n/a	n/a
38	FOSL2	chr8:86088979-86089404	A549	lung:	n/a	chr8:86089331-86089340
39	SIN3AK20	chr8:86089172-86089417	HepG2	liver:	n/a	n/a
40	MXI1	chr8:86089120-86090589	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr8:86089124-86089589	SK-N-SH	brain:	n/a	chr8:86089332-86089341 chr8:86089551-86089560
42	MAX	chr8:86089022-86090451	ECC-1	luminal epithelium:	n/a	chr8:86089407-86089417 chr8:86090163-86090172
43	MYC	chr8:86089128-86089581	MCF-7	breast:	n/a	chr8:86089407-86089417
44	RELA	chr8:86088906-86090346	GM19099	blood:	n/a	n/a
45	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
46	POLR2A	chr8:86089158-86089572	HepG2	liver:	n/a	n/a
47	GABPA	chr8:86089028-86089613	SK-N-SH	brain:	n/a	chr8:86089332-86089341 chr8:86089596-86089605 chr8:86089551-86089560
48	BACH1	chr8:86089048-86089625	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr8:86089016-86089609	HepG2	liver:	n/a	n/a
50	EGR1	chr8:86088971-86090385	HCT-116	colon:	n/a	chr8:86089909-86089918 chr8:86089550-86089560 chr8:86090056-86090069 chr8:86089451-86089464 chr8:86089906-86089919 chr8:86089451-86089464 chr8:86089453-86089463 chr8:86089589-86089599 chr8:86089346-86089355 chr8:86089450-86089465

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	chr8:86089162..86091404-chr8:86126321..86127950,2	MCF-7	breast:
8	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:
9	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf59-2	chr8:86089066-86089276	ENSG00000260493.1
2	lnc-C8orf59-2	chr8:86088034-86089297	ENSG00000260493.1

Variant related genes	Relation type
E2F5	TF binding region
ENSG00000133739	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000185015	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86088600-86089200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr8:86088600-86089200	Flanking Active TSS	Dnd41	blood
3	chr8:86088600-86089200	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:86088600-86089200	Flanking Active TSS	K562	blood
5	chr8:86088600-86089400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:86088600-86090400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:86088600-86090600	Active TSS	Fetal Brain Female	brain
8	chr8:86088600-86090800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:86088600-86090800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:86088600-86090800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:86088600-86091000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:86088600-86091000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:86088600-86091600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:86088800-86089200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:86088800-86089200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:86088800-86089200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:86088800-86089200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:86088800-86089200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr8:86088800-86089200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:86088800-86089200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:86088800-86089200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr8:86088800-86089200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr8:86088800-86089200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:86088800-86089200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:86088800-86089200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr8:86088800-86089200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr8:86088800-86089200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:86088800-86089200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr8:86088800-86089200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:86088800-86089200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:86088800-86089200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr8:86088800-86089200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr8:86088800-86089200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:86088800-86089200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:86088800-86089200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:86088800-86089200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:86088800-86089200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr8:86088800-86089200	Flanking Active TSS	Liver	Liver
39	chr8:86088800-86089200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr8:86088800-86089200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr8:86088800-86089200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr8:86088800-86089200	Flanking Active TSS	Fetal Heart	heart
43	chr8:86088800-86089200	Flanking Active TSS	Fetal Kidney	kidney
44	chr8:86088800-86089200	Flanking Active TSS	Fetal Lung	lung
45	chr8:86088800-86089200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr8:86088800-86089200	Flanking Active TSS	Fetal Thymus	thymus
47	chr8:86088800-86089200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr8:86088800-86089200	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr8:86088800-86089200	Enhancers	Small Intestine	intestine
50	chr8:86088800-86089200	Enhancers	Stomach Mucosa	stomach

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