Variant report

Variant	rs568747983
Chromosome Location	chr6:28048155-28048156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28047693-28048275	ECC-1	luminal epithelium:	n/a	n/a
2	REST	chr6:28048128-28049752	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:28047732-28048164	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:28047731-28049467	NB4	blood:	n/a	n/a
5	RUNX3	chr6:28047706-28048167	GM12878	blood:	n/a	n/a
6	CTCF	chr6:28048040-28048190	GM12873	blood:	n/a	n/a
7	POLR2A	chr6:28047920-28048296	MCF-7	breast:	n/a	n/a
8	NR2F2	chr6:28047509-28049480	K562	blood:	n/a	n/a
9	FOXM1	chr6:28047640-28048281	GM12878	blood:	n/a	n/a
10	FOXM1	chr6:28047600-28048215	GM12878	blood:	n/a	n/a
11	HEY1	chr6:28047784-28048216	HepG2	liver:	n/a	n/a
12	POU2F2	chr6:28047609-28048170	GM12878	blood:	n/a	n/a
13	FOXM1	chr6:28047590-28049058	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr6:28047698-28049297	H1-hESC	embryonic stem cell:	n/a	n/a
15	HEY1	chr6:28047637-28049220	HepG2	liver:	n/a	chr6:28048968-28048977 chr6:28048970-28048979
16	POLR2A	chr6:28047699-28048216	K562	blood:	n/a	n/a
17	TAF1	chr6:28047936-28048167	Hela-S3	cervix:	n/a	n/a
18	TRIM28	chr6:28047564-28049117	K562	blood:	n/a	n/a
19	POLR2A	chr6:28047555-28049544	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:28047701-28048266	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr6:28047558-28049528	GM12892	blood:	n/a	n/a
22	KAP1	chr6:28047912-28049105	HEK293	kidney:	n/a	n/a
23	POLR2A	chr6:28047825-28049375	Hela-S3	cervix:	n/a	n/a
24	USF1	chr6:28047677-28048167	K562	blood:	n/a	chr6:28047837-28047848
25	POLR2A	chr6:28047607-28048294	HCT-116	colon:	n/a	n/a
26	POLR2A	chr6:28047765-28048226	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:28047643-28049592	GM12878	blood:	n/a	n/a
28	JUN	chr6:28047615-28050070	K562	blood:	n/a	chr6:28048968-28048981 chr6:28048969-28048978 chr6:28048475-28048484
29	ZEB1	chr6:28047705-28048366	GM12878	blood:	n/a	chr6:28048058-28048067
30	POLR2A	chr6:28047603-28049531	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:28047766-28048187	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOXM1	chr6:28047615-28048327	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr6:28047685-28048178	HCT-116	colon:	n/a	chr6:28047837-28047848
34	POLR2A	chr6:28047639-28049375	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:28047660-28049588	K562	blood:	n/a	n/a
36	MYBL2	chr6:28047592-28049250	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:28047775-28049225	K562	blood:	n/a	n/a
38	POLR2A	chr6:28047627-28049376	K562	blood:	n/a	n/a
39	POLR2A	chr6:28047735-28049138	HCT-116	colon:	n/a	n/a
40	POLR2A	chr6:28047684-28048264	GM12891	blood:	n/a	n/a
41	MYC	chr6:28047784-28048315	MCF10A-Er-Src	breast:	n/a	n/a
42	ESRRA	chr6:28047631-28049989	GM12878	blood:	n/a	chr6:28048696-28048709
43	POLR2A	chr6:28047813-28049595	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:28047815-28048211	GM12892	blood:	n/a	n/a
45	POLR2A	chr6:28047660-28048286	GM12892	blood:	n/a	n/a
46	YY1	chr6:28047879-28048187	K562	blood:	n/a	n/a
47	RUNX3	chr6:28047662-28048165	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:28047613-28049313	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr6:28047694-28048163	K562	blood:	n/a	n/a
50	JUND	chr6:28047636-28048199	K562	blood:	n/a	chr6:28047852-28047863

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27858986..27862091-chr6:28047541..28050017,3	K562	blood:
2	chr6:27859779..27863183-chr6:28046529..28048591,3	MCF-7	breast:
3	chr6:28046886..28048721-chr6:28303106..28304865,2	K562	blood:
4	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
5	chr6:28046527..28048657-chr6:28057860..28059913,2	MCF-7	breast:
6	chr13:39260551..39262193-chr6:28047138..28049723,2	MCF-7	breast:
7	chr6:27858116..27862502-chr6:28047404..28050448,4	K562	blood:
8	chr6:28047155..28050172-chr6:28104375..28106249,3	K562	blood:
9	chr6:28046681..28048670-chr6:28358880..28361224,2	K562	blood:
10	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
11	chr6:27805460..27807795-chr6:28047138..28049507,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF165	TF binding region
ENSG00000196331	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000219891	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000150893	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000184348	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	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv33436	chr6:28044346-28049043	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv823466	chr6:28046620-28048635	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv823467	chr6:28046710-28048540	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28047000-28048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:28047200-28049000	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:28047200-28049200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:28047200-28049400	Active TSS	Hela-S3	cervix
5	chr6:28047400-28048200	Active TSS	Primary hematopoietic stem cells	blood
6	chr6:28047400-28049200	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:28047400-28049200	Active TSS	Colonic Mucosa	Colon
8	chr6:28047400-28049200	Active TSS	Duodenum Mucosa	Duodenum
9	chr6:28047400-28049200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:28047400-28049200	Active TSS	K562	blood
11	chr6:28047400-28051400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:28047600-28048200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr6:28047600-28048200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:28047600-28048200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr6:28047600-28048200	Flanking Active TSS	Dnd41	blood
16	chr6:28047600-28048400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr6:28047600-28048400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:28047600-28049000	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr6:28047600-28049000	Active TSS	Liver	Liver
20	chr6:28047600-28049000	Active TSS	GM12878-XiMat	blood
21	chr6:28047600-28049200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:28047600-28049200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:28047600-28049200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:28047600-28049200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:28047600-28049200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:28047600-28049200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:28047600-28049400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:28047600-28049400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:28047600-28049400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:28047600-28049400	Active TSS	Fetal Intestine Large	intestine
31	chr6:28047600-28049600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:28047600-28049600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:28047600-28049600	Active TSS	Fetal Intestine Small	intestine
34	chr6:28047600-28049600	Active TSS	Fetal Kidney	kidney
35	chr6:28047600-28049800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:28047600-28049800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr6:28047600-28049800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:28047600-28049800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:28047600-28049800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:28047600-28049800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:28047600-28050000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:28047600-28050000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:28047600-28050200	Active TSS	HMEC	breast
44	chr6:28047600-28051400	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:28047800-28048200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:28047800-28048200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:28047800-28048200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:28047800-28048200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr6:28047800-28048200	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr6:28047800-28048200	Flanking Active TSS	Brain Anterior Caudate	brain

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