Variant report

Variant	rs73742509
Chromosome Location	chr6:28235468-28235469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:28234438-28235488	SK-N-SH_RA	brain:	n/a	chr6:28234608-28234618 chr6:28235097-28235106
2	MYBL2	chr6:28234635-28235532	HepG2	liver:	n/a	n/a
3	MTA3	chr6:28234609-28235520	GM12878	blood:	n/a	n/a
4	RUNX3	chr6:28234667-28235504	GM12878	blood:	n/a	n/a
5	REST	chr6:28234304-28236278	H1-neurons	neurons:	n/a	chr6:28235001-28235011 chr6:28234996-28235009
6	POLR2A	chr6:28234574-28235664	H1-neurons	neurons:	n/a	n/a
7	CBX3	chr6:28234619-28235489	K562	blood:	n/a	n/a
8	POLR2A	chr6:28234592-28235571	ProgFib	skin:	n/a	n/a
9	NR2F2	chr6:28234511-28235549	K562	blood:	n/a	n/a
10	TAF1	chr6:28234690-28235541	H1-neurons	neurons:	n/a	n/a
11	GABPA	chr6:28234537-28235492	MCF-7	breast:	n/a	chr6:28235097-28235106
12	HDAC2	chr6:28234733-28235493	HepG2	liver:	n/a	n/a
13	WRNIP1	chr6:28235325-28235489	GM12878	blood:	n/a	n/a
14	MAFK	chr6:28234656-28235481	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr6:28233847-28235729	SK-N-SH	brain:	n/a	n/a
16	PML	chr6:28234430-28235525	GM12878	blood:	n/a	n/a
17	MAFK	chr6:28235300-28235506	K562	blood:	n/a	n/a
18	POLR2A	chr6:28235400-28237811	K562	blood:	n/a	n/a
19	RUNX3	chr6:28234498-28235518	GM12878	blood:	n/a	n/a
20	NFIC	chr6:28234703-28235526	HepG2	liver:	n/a	n/a
21	BACH1	chr6:28235295-28235495	K562	blood:	n/a	n/a
22	POLR2A	chr6:28234705-28235512	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:28234551-28235644	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr6:28234478-28235475	SK-N-MC	brain:	n/a	n/a
25	MAX	chr6:28234660-28235508	K562	blood:	n/a	chr6:28235095-28235105
26	MYBL2	chr6:28234492-28235499	HepG2	liver:	n/a	n/a
27	JUND	chr6:28234614-28235530	K562	blood:	n/a	n/a
28	MAZ	chr6:28234630-28235489	GM12878	blood:	n/a	chr6:28235095-28235105
29	REST	chr6:28234581-28235596	H1-neurons	neurons:	n/a	chr6:28235001-28235011 chr6:28234996-28235009
30	TEAD4	chr6:28234332-28235608	K562	blood:	n/a	n/a
31	MAX	chr6:28234653-28235546	SK-N-SH	brain:	n/a	chr6:28235095-28235105
32	MXI1	chr6:28234477-28235574	GM12878	blood:	n/a	n/a
33	MAFK	chr6:28235045-28235471	HepG2	liver:	n/a	n/a
34	RCOR1	chr6:28234741-28235481	K562	blood:	n/a	n/a
35	TBL1XR1	chr6:28235468-28235514	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:28234630-28235468	HepG2	liver:	n/a	n/a
37	TAF1	chr6:28234566-28235472	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr6:28234514-28235487	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:28200128..28202663-chr6:28235372..28237397,2	K562	blood:
2	chr6:28232839..28237434-chr6:28303380..28305726,5	MCF-7	breast:
3	chr6:28234248..28238647-chr6:28302210..28305266,7	K562	blood:
4	chr6:28232995..28235984-chr6:28248211..28251032,3	MCF-7	breast:
5	chr6:28218740..28220554-chr6:28234465..28236739,2	MCF-7	breast:
6	chr6:28230426..28232674-chr6:28234865..28236670,2	K562	blood:
7	chr6:28234639..28236512-chr6:28285629..28288301,2	K562	blood:
8	chr6:28233221..28238495-chr6:28301018..28307259,12	K562	blood:
9	chr2:28766464..28767325-chr6:28234791..28235488,2	MCF-7	breast:
10	chr6:28048448..28050071-chr6:28234359..28236283,2	K562	blood:
11	chr6:28233569..28236323-chr6:28583574..28585743,2	K562	blood:
12	chr15:48826718..48827238-chr6:28234952..28235665,2	HCT-116	colon:
13	chr6:28217166..28222171-chr6:28233596..28237356,7	MCF-7	breast:
14	chr6:28235190..28237115-chr6:28295999..28298391,2	K562	blood:
15	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
16	chr6:28233021..28237962-chr6:28316234..28324041,9	K562	blood:
17	chr6:28191934..28194357-chr6:28233804..28235938,2	MCF-7	breast:
18	chr6:28234828..28238066-chr6:28314810..28319280,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197062	TF binding region
ENSG00000137185	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000270326	Chromatin interaction
ENSG00000187626	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17776284	0.89[ASN][1000 genomes]
rs2235358	0.97[ASN][1000 genomes]
rs2299031	0.89[ASN][1000 genomes]
rs3800326	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 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	chr6:28233800-28235800	Active TSS	Brain Hippocampus Middle	brain
2	chr6:28233800-28236400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:28234000-28235600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr6:28234000-28235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:28234000-28235800	Active TSS	Fetal Kidney	kidney
6	chr6:28234000-28235800	Active TSS	Stomach Smooth Muscle	stomach
7	chr6:28234000-28236000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28234000-28236000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:28234200-28235600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:28234200-28235600	Active TSS	Fetal Brain Male	brain
11	chr6:28234200-28235600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr6:28234200-28235600	Active TSS	Osteobl	bone
13	chr6:28234200-28235800	Active TSS	NHDF-Ad	bronchial
14	chr6:28234200-28236000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:28234200-28236000	Active TSS	Fetal Stomach	stomach
16	chr6:28234200-28236000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:28234200-28236000	Active TSS	A549	lung
18	chr6:28234200-28236200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:28234200-28236400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:28234200-28236400	Active TSS	NHLF	lung
21	chr6:28234400-28235600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:28234400-28235600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:28234400-28235600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:28234400-28235600	Active TSS	Aorta	Aorta
25	chr6:28234400-28235600	Active TSS	Brain Anterior Caudate	brain
26	chr6:28234400-28235600	Active TSS	Brain Cingulate Gyrus	brain
27	chr6:28234400-28235600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:28234400-28235600	Active TSS	Fetal Muscle Trunk	muscle
29	chr6:28234400-28235600	Active TSS	HSMM	muscle
30	chr6:28234400-28235800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:28234400-28235800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:28234400-28235800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:28234400-28235800	Active TSS	Brain Substantia Nigra	brain
34	chr6:28234400-28235800	Active TSS	Fetal Intestine Large	intestine
35	chr6:28234400-28235800	Active TSS	Fetal Lung	lung
36	chr6:28234400-28235800	Active TSS	Fetal Muscle Leg	muscle
37	chr6:28234400-28235800	Active TSS	Ovary	ovary
38	chr6:28234400-28236000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:28234400-28236000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:28234400-28236000	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:28234400-28236000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:28234400-28236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:28234400-28236200	Active TSS	Psoas Muscle	Psoas
44	chr6:28234400-28236200	Active TSS	Right Atrium	heart
45	chr6:28234400-28236800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:28234600-28235600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:28234600-28235600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:28234600-28235600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:28234600-28235600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:28234600-28235600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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