Variant report

Variant	rs145402835
Chromosome Location	chr8:110551261-110551262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr8:110551040-110553109	IMR90	lung:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
2	POLR2A	chr8:110550770-110554098	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:110551203-110553149	K562	blood:	n/a	n/a
4	POLR2A	chr8:110550972-110553228	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr8:110551244-110552959	PFSK-1	brain:	n/a	n/a
6	MAZ	chr8:110551242-110552961	K562	blood:	n/a	n/a
7	BRCA1	chr8:110551169-110551837	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:110551135-110553681	GM12878	blood:	n/a	n/a
9	NR2F2	chr8:110551257-110552985	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:110551162-110553182	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr8:110551155-110552708	H1-neurons	neurons:	n/a	n/a
12	MAX	chr8:110551192-110552995	HepG2	liver:	n/a	n/a
13	MAX	chr8:110551194-110553003	NB4	blood:	n/a	n/a
14	CBX3	chr8:110551177-110551893	K562	blood:	n/a	n/a
15	TEAD4	chr8:110551208-110551895	K562	blood:	n/a	n/a
16	CTCF	chr8:110551240-110551390	BE2_C	brain:	n/a	n/a
17	POLR2A	chr8:110551185-110553271	PBDE	blood:	n/a	n/a
18	RFX5	chr8:110550556-110553241	SK-N-SH	brain:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
19	RCOR1	chr8:110551150-110552995	K562	blood:	n/a	n/a
20	POLR2A	chr8:110550683-110554025	Raji	blood:	n/a	n/a
21	PML	chr8:110551112-110553131	GM12878	blood:	n/a	n/a
22	REST	chr8:110550834-110552923	H1-neurons	neurons:	n/a	chr8:110551898-110551911 chr8:110552133-110552146
23	MAX	chr8:110551108-110552964	MCF-7	breast:	n/a	n/a
24	RELA	chr8:110551072-110553029	GM12891	blood:	n/a	chr8:110552180-110552189 chr8:110552180-110552189
25	POLR2A	chr8:110551210-110552879	H1-hESC	embryonic stem cell:	n/a	n/a
26	STAT1	chr8:110551238-110552943	GM12878	blood:	n/a	chr8:110552127-110552139 chr8:110552132-110552144 chr8:110552200-110552212
27	CTCF	chr8:110551240-110551390	HAc	cerebellar:	n/a	n/a
28	POLR2A	chr8:110551156-110553058	GM18505	blood:	n/a	n/a
29	MAX	chr8:110551244-110553093	HCT-116	colon:	n/a	n/a
30	MTA3	chr8:110550978-110551875	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:110551107-110553263	K562	blood:	n/a	n/a
32	MAX	chr8:110551174-110553120	A549	lung:	n/a	n/a
33	HCFC1	chr8:110551186-110553338	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr8:110551174-110552764	H1-neurons	neurons:	n/a	n/a
35	MAFK	chr8:110551142-110551729	K562	blood:	n/a	n/a
36	RELA	chr8:110551194-110552985	GM10847	blood:	n/a	chr8:110552180-110552189 chr8:110552180-110552189
37	TAF1	chr8:110551172-110551897	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr8:110550382-110554219	GM12891	blood:	n/a	n/a
39	POLR2A	chr8:110551194-110553796	K562	blood:	n/a	n/a
40	MAZ	chr8:110551022-110553044	IMR90	lung:	n/a	n/a
41	MAX	chr8:110551248-110552949	MCF-7	breast:	n/a	n/a
42	POLR2A	chr8:110551136-110553262	K562	blood:	n/a	n/a
43	MXI1	chr8:110550546-110553817	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr8:110551239-110553015	K562	blood:	n/a	n/a
45	MXI1	chr8:110550847-110553142	IMR90	lung:	n/a	n/a
46	NFATC1	chr8:110551104-110551913	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:110551213-110553125	GM19193	blood:	n/a	n/a
48	NFYB	chr8:110550879-110552286	GM12878	blood:	n/a	chr8:110551778-110551788 chr8:110551777-110551792
49	POLR2A	chr8:110551167-110554515	K562	blood:	n/a	n/a
50	NFYA	chr8:110550929-110551991	K562	blood:	n/a	chr8:110551778-110551788

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
4	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
5	chr8:110550506..110554029-chr8:110560195..110563108,6	MCF-7	breast:
6	chr8:110534700..110536974-chr8:110550583..110552787,3	MCF-7	breast:
7	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:
8	chr8:110532422..110535509-chr8:110550359..110553902,3	K562	blood:
9	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
10	chr8:110491337..110493958-chr8:110550109..110551629,2	MCF-7	breast:
11	chr8:110551172..110552900-chr8:110613869..110616553,2	MCF-7	breast:
12	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
13	chr8:110345283..110346986-chr8:110550788..110552919,3	MCF-7	breast:
14	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
15	chr8:110490813..110493110-chr8:110549363..110552380,3	MCF-7	breast:
16	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
17	chr8:110549295..110551335-chr8:110575398..110578462,3	K562	blood:
18	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

No data

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000254185	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000205038	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	esv3444305	chr8:110551095-110551343	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110549600-110551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:110550600-110551600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:110550800-110551400	Flanking Active TSS	K562	blood
4	chr8:110550800-110551600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:110550800-110551600	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:110550800-110553400	Active TSS	Colonic Mucosa	Colon
7	chr8:110550800-110553600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:110551000-110551400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:110551000-110551400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:110551000-110551400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:110551000-110551400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:110551000-110551400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:110551000-110551400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr8:110551000-110551400	Flanking Active TSS	Fetal Brain Female	brain
15	chr8:110551000-110551400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr8:110551000-110551600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:110551000-110551600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:110551000-110551600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:110551000-110551600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr8:110551000-110551600	Flanking Active TSS	Dnd41	blood
21	chr8:110551000-110551600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:110551000-110551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:110551000-110553000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:110551200-110551400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:110551200-110551400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:110551200-110551400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:110551200-110551400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:110551200-110551400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:110551200-110551400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:110551200-110551400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:110551200-110551400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:110551200-110551400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:110551200-110551400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:110551200-110551400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr8:110551200-110551400	Flanking Active TSS	Fetal Brain Male	brain
38	chr8:110551200-110551400	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr8:110551200-110551400	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr8:110551200-110551400	Flanking Active TSS	Fetal Lung	lung
41	chr8:110551200-110551400	Enhancers	Placenta	Placenta
42	chr8:110551200-110551400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:110551200-110551400	Enhancers	Small Intestine	intestine
44	chr8:110551200-110551400	Flanking Active TSS	Thymus	Thymus
45	chr8:110551200-110551400	Flanking Active TSS	A549	lung
46	chr8:110551200-110551400	Flanking Active TSS	NHLF	lung
47	chr8:110551200-110551600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr8:110551200-110551600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:110551200-110551600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:110551200-110551600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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