Variant report

Variant	rs11754878
Chromosome Location	chr6:117995353-117995354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:117994993-117996768	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:117919537..117925760-chr6:117993513..117997816,10	K562	blood:
2	chr6:117989002..117991438-chr6:117994299..117996624,2	K562	blood:
3	chr6:117919854..117927630-chr6:117992313..117999313,9	K562	blood:
4	chr6:117975355..117979268-chr6:117992487..117995744,5	K562	blood:
5	chr6:117962591..117965580-chr6:117994482..117996305,2	K562	blood:
6	chr6:117764099..117766879-chr6:117995038..117997863,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUS1	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000221434	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11153691	1.00[ASN][1000 genomes]
rs11754735	1.00[ASN][1000 genomes]
rs11759685	1.00[ASN][1000 genomes]
rs12191882	1.00[ASN][1000 genomes]
rs12192219	1.00[ASN][1000 genomes]
rs12196946	1.00[ASN][1000 genomes]
rs12202612	1.00[ASN][1000 genomes]
rs12209476	1.00[ASN][1000 genomes]
rs12374604	1.00[ASN][1000 genomes]
rs57002978	0.90[ASN][1000 genomes]
rs72967253	1.00[ASN][1000 genomes]
rs9766656	1.00[ASN][1000 genomes]

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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv5449	chr6:117954646-117999751	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117969400-117995800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:117973800-117995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:117978000-117995600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:117990600-117995800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:117991600-117995400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:117991600-117996000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:117991800-117995600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:117992200-117995600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:117993000-117995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:117993400-117995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:117993600-117995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:117995000-117995600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:117995000-117995600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:117995000-117995800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:117995000-117995800	Flanking Active TSS	HepG2	liver
16	chr6:117995000-117996400	Flanking Active TSS	Dnd41	blood
17	chr6:117995000-117998000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:117995200-117995400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:117995200-117995400	Flanking Active TSS	K562	blood
20	chr6:117995200-117995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:117995200-117995600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:117995200-117995600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:117995200-117995600	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:117995200-117995800	Enhancers	Primary T cells from cord blood	blood
25	chr6:117995200-117995800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:117995200-117995800	Enhancers	Brain Hippocampus Middle	brain
27	chr6:117995200-117995800	Active TSS	Colon Smooth Muscle	Colon
28	chr6:117995200-117996200	Enhancers	Spleen	Spleen
29	chr6:117995200-117998000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:117995200-117998200	Active TSS	GM12878-XiMat	blood
31	chr6:117995200-117999000	Active TSS	HUES64 Cell Line	embryonic stem cell

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