Variant report

Variant	rs190655342
Chromosome Location	chr6:28047759-28047760
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 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	FOXA1	chr6:28047632-28048072	HepG2	liver:	n/a	n/a
3	USF1	chr6:28047661-28048132	K562	blood:	n/a	chr6:28047837-28047848
4	TBL1XR1	chr6:28047736-28047919	K562	blood:	n/a	n/a
5	POLR2A	chr6:28047732-28048164	HepG2	liver:	n/a	n/a
6	JUN	chr6:28047726-28047914	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:28047731-28049467	NB4	blood:	n/a	n/a
8	EP300	chr6:28047636-28048101	K562	blood:	n/a	n/a
9	NR2F2	chr6:28047562-28048107	K562	blood:	n/a	n/a
10	STAT3	chr6:28047724-28048102	MCF10A-Er-Src	breast:	n/a	n/a
11	RUNX3	chr6:28047706-28048167	GM12878	blood:	n/a	n/a
12	GATA2	chr6:28047557-28047960	K562	blood:	n/a	n/a
13	NR2F2	chr6:28047509-28049480	K562	blood:	n/a	n/a
14	FOXM1	chr6:28047640-28048281	GM12878	blood:	n/a	n/a
15	FOXM1	chr6:28047600-28048215	GM12878	blood:	n/a	n/a
16	POU2F2	chr6:28047609-28048170	GM12878	blood:	n/a	n/a
17	FOS	chr6:28047698-28048141	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXM1	chr6:28047590-28049058	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:28047698-28049297	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr6:28047637-28049220	HepG2	liver:	n/a	chr6:28048968-28048977 chr6:28048970-28048979
21	SP1	chr6:28047629-28048120	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:28047699-28048216	K562	blood:	n/a	n/a
23	TRIM28	chr6:28047564-28049117	K562	blood:	n/a	n/a
24	POLR2A	chr6:28047555-28049544	GM12892	blood:	n/a	n/a
25	POLR2A	chr6:28047701-28048266	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr6:28047558-28049528	GM12892	blood:	n/a	n/a
27	USF1	chr6:28047666-28047998	HepG2	liver:	n/a	chr6:28047837-28047848
28	JUND	chr6:28047728-28048011	H1-hESC	embryonic stem cell:	n/a	chr6:28047852-28047863
29	MAX	chr6:28047739-28048136	K562	blood:	n/a	n/a
30	USF1	chr6:28047677-28048167	K562	blood:	n/a	chr6:28047837-28047848
31	POLR2A	chr6:28047607-28048294	HCT-116	colon:	n/a	n/a
32	POLR2A	chr6:28047643-28049592	GM12878	blood:	n/a	n/a
33	EP300	chr6:28047727-28047984	GM12878	blood:	n/a	n/a
34	USF1	chr6:28047708-28048026	H1-hESC	embryonic stem cell:	n/a	chr6:28047837-28047848
35	JUN	chr6:28047615-28050070	K562	blood:	n/a	chr6:28048968-28048981 chr6:28048969-28048978 chr6:28048475-28048484
36	ZEB1	chr6:28047705-28048366	GM12878	blood:	n/a	chr6:28048058-28048067
37	POLR2A	chr6:28047603-28049531	H1-hESC	embryonic stem cell:	n/a	n/a
38	FOXM1	chr6:28047615-28048327	ECC-1	luminal epithelium:	n/a	n/a
39	USF1	chr6:28047685-28048178	HCT-116	colon:	n/a	chr6:28047837-28047848
40	BHLHE40	chr6:28047727-28047994	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:28047639-28049375	Hela-S3	cervix:	n/a	n/a
42	MAX	chr6:28047660-28049588	K562	blood:	n/a	n/a
43	MYBL2	chr6:28047592-28049250	HepG2	liver:	n/a	n/a
44	USF2	chr6:28047695-28048066	Hela-S3	cervix:	n/a	chr6:28047837-28047848
45	POLR2A	chr6:28047627-28049376	K562	blood:	n/a	n/a
46	POLR2A	chr6:28047735-28049138	HCT-116	colon:	n/a	n/a
47	E2F6	chr6:28047735-28047987	K562	blood:	n/a	n/a
48	POLR2A	chr6:28047684-28048264	GM12891	blood:	n/a	n/a
49	ESRRA	chr6:28047631-28049989	GM12878	blood:	n/a	chr6:28048696-28048709
50	USF1	chr6:28047635-28048091	H1-hESC	embryonic stem cell:	n/a	chr6:28047837-28047848

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27858986..27862091-chr6:28047541..28050017,3	K562	blood:
2	chr6:28046111..28048022-chr6:28095723..28098620,2	K562	blood:
3	chr6:27859779..27863183-chr6:28046529..28048591,3	MCF-7	breast:
4	chr6:28046886..28048721-chr6:28303106..28304865,2	K562	blood:
5	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
6	chr6:28046527..28048657-chr6:28057860..28059913,2	MCF-7	breast:
7	chr13:39260551..39262193-chr6:28047138..28049723,2	MCF-7	breast:
8	chr6:27858116..27862502-chr6:28047404..28050448,4	K562	blood:
9	chr6:28047155..28050172-chr6:28104375..28106249,3	K562	blood:
10	chr6:28046681..28048670-chr6:28358880..28361224,2	K562	blood:
11	chr6:28044713..28049958-chr6:28107484..28111355,5	K562	blood:
12	chr6:27805460..27807795-chr6:28047138..28049507,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF165	TF binding region
ENSG00000261839	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000150893	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000219891	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28043200-28047800	Weak transcription	Spleen	Spleen
2	chr6:28045600-28047800	Weak transcription	Right Atrium	heart
3	chr6:28045800-28047800	Weak transcription	Fetal Brain Male	brain
4	chr6:28046000-28047800	Weak transcription	Fetal Heart	heart
5	chr6:28046800-28047800	Weak transcription	Left Ventricle	heart
6	chr6:28047000-28047800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:28047000-28047800	Weak transcription	Lung	lung
8	chr6:28047000-28048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:28047200-28047800	Active TSS	Fetal Brain Female	brain
10	chr6:28047200-28049000	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:28047200-28049200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:28047200-28049400	Active TSS	Hela-S3	cervix
13	chr6:28047400-28047800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:28047400-28048200	Active TSS	Primary hematopoietic stem cells	blood
15	chr6:28047400-28049200	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:28047400-28049200	Active TSS	Colonic Mucosa	Colon
17	chr6:28047400-28049200	Active TSS	Duodenum Mucosa	Duodenum
18	chr6:28047400-28049200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:28047400-28049200	Active TSS	K562	blood
20	chr6:28047400-28051400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:28047600-28047800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:28047600-28047800	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr6:28047600-28047800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:28047600-28047800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:28047600-28047800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:28047600-28047800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:28047600-28047800	Enhancers	Brain Angular Gyrus	brain
28	chr6:28047600-28047800	Active TSS	Brain Anterior Caudate	brain
29	chr6:28047600-28047800	Active TSS	Brain Cingulate Gyrus	brain
30	chr6:28047600-28047800	Enhancers	Brain Substantia Nigra	brain
31	chr6:28047600-28047800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:28047600-28047800	Active TSS	Fetal Muscle Leg	muscle
33	chr6:28047600-28047800	Weak transcription	Gastric	stomach
34	chr6:28047600-28047800	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:28047600-28047800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:28047600-28047800	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:28047600-28047800	Active TSS	Stomach Smooth Muscle	stomach
38	chr6:28047600-28047800	Enhancers	Osteobl	bone
39	chr6:28047600-28048000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:28047600-28048000	Flanking Active TSS	Placenta	Placenta
41	chr6:28047600-28048000	Active TSS	HepG2	liver
42	chr6:28047600-28048200	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr6:28047600-28048200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:28047600-28048200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:28047600-28048200	Flanking Active TSS	Dnd41	blood
46	chr6:28047600-28048400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:28047600-28048400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:28047600-28049000	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr6:28047600-28049000	Active TSS	Liver	Liver
50	chr6:28047600-28049000	Active TSS	GM12878-XiMat	blood

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