Variant report

Variant	rs61127718
Chromosome Location	chr6:28234423-28234424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:28234420-28235250	K562	blood:	n/a	chr6:28234608-28234618 chr6:28235097-28235106
2	REST	chr6:28234304-28236278	H1-neurons	neurons:	n/a	chr6:28235001-28235011 chr6:28234996-28235009
3	ATF2	chr6:28234350-28235139	GM12878	blood:	n/a	n/a
4	EP300	chr6:28234414-28235010	K562	blood:	n/a	n/a
5	MXI1	chr6:28233847-28235729	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr6:28234334-28235363	PFSK-1	brain:	n/a	n/a
7	ARID3A	chr6:28234322-28235058	K562	blood:	n/a	n/a
8	CHD1	chr6:28234382-28235248	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr6:28234319-28235308	SK-N-SH	brain:	n/a	chr6:28234608-28234618 chr6:28235097-28235106
10	NFIC	chr6:28234408-28235320	GM12878	blood:	n/a	n/a
11	TEAD4	chr6:28234332-28235608	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:28232678..28234825-chr6:28301975..28304232,2	MCF-7	breast:
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	chr6:28233221..28238495-chr6:28301018..28307259,12	K562	blood:
6	chr6:28048448..28050071-chr6:28234359..28236283,2	K562	blood:
7	chr6:28233569..28236323-chr6:28583574..28585743,2	K562	blood:
8	chr6:28091663..28094187-chr6:28232383..28234529,2	MCF-7	breast:
9	chr6:28217166..28222171-chr6:28233596..28237356,7	MCF-7	breast:
10	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
11	chr6:28233021..28237962-chr6:28316234..28324041,9	K562	blood:
12	chr6:28191934..28194357-chr6:28233804..28235938,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197062	TF binding region
ENSG00000187626	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000272009	Chromatin interaction
ENSG00000197279	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000196812	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10456362	0.80[ASN][1000 genomes]
rs11755032	0.83[ASN][1000 genomes]
rs12055625	0.87[EUR][1000 genomes]
rs13200462	0.80[ASN][1000 genomes]
rs1321504	0.87[EUR][1000 genomes]
rs1339899	0.82[ASN][1000 genomes]
rs1679709	0.80[ASN][1000 genomes]
rs1679732	0.80[ASN][1000 genomes]
rs1778507	0.86[ASN][1000 genomes]
rs1778508	0.80[ASN][1000 genomes]
rs1778511	0.80[ASN][1000 genomes]
rs2232420	0.88[AMR][1000 genomes]
rs61535158	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68141011	0.80[ASN][1000 genomes]
rs6920512	0.85[ASN][1000 genomes]
rs9295765	0.81[AMR][1000 genomes]
rs9295766	0.81[AMR][1000 genomes]
rs9295767	0.81[AMR][1000 genomes]
rs9461446	0.86[ASN][1000 genomes]
rs9461448	0.83[ASN][1000 genomes]
rs9461449	0.83[ASN][1000 genomes]
rs9468321	0.86[ASN][1000 genomes]
rs9468322	0.86[ASN][1000 genomes]
rs9986596	0.80[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
2	chr6:28230400-28234600	Weak transcription	Right Ventricle	heart
3	chr6:28233800-28234600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr6:28233800-28234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:28233800-28234800	Flanking Active TSS	Dnd41	blood
6	chr6:28233800-28235800	Active TSS	Brain Hippocampus Middle	brain
7	chr6:28233800-28236400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:28234000-28234600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:28234000-28234600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr6:28234000-28234600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:28234000-28234600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:28234000-28234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:28234000-28234600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:28234000-28234800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:28234000-28235600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:28234000-28235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:28234000-28235800	Active TSS	Fetal Kidney	kidney
18	chr6:28234000-28235800	Active TSS	Stomach Smooth Muscle	stomach
19	chr6:28234000-28236000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:28234000-28236000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:28234200-28234600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:28234200-28234600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:28234200-28234600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:28234200-28234600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr6:28234200-28234600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:28234200-28234600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:28234200-28234600	Flanking Active TSS	Fetal Brain Female	brain
28	chr6:28234200-28234600	Flanking Active TSS	HepG2	liver
29	chr6:28234200-28234800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr6:28234200-28235200	Active TSS	Adipose Nuclei	Adipose
31	chr6:28234200-28235200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:28234200-28235400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:28234200-28235400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:28234200-28235400	Active TSS	HMEC	breast
35	chr6:28234200-28235400	Active TSS	K562	blood
36	chr6:28234200-28235600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:28234200-28235600	Active TSS	Fetal Brain Male	brain
38	chr6:28234200-28235600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:28234200-28235600	Active TSS	Osteobl	bone
40	chr6:28234200-28235800	Active TSS	NHDF-Ad	bronchial
41	chr6:28234200-28236000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:28234200-28236000	Active TSS	Fetal Stomach	stomach
43	chr6:28234200-28236000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:28234200-28236000	Active TSS	A549	lung
45	chr6:28234200-28236200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:28234200-28236400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr6:28234200-28236400	Active TSS	NHLF	lung
48	chr6:28234400-28234600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:28234400-28234600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:28234400-28234600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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