Variant report

Variant	rs2451713
Chromosome Location	chr6:26660655-26660656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:26659841-26660782	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr6:26660600-26660750	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr6:26659420-26660678	MCF-7	breast:	n/a	n/a
4	MAZ	chr6:26659287-26660835	IMR90	lung:	n/a	chr6:26660111-26660121 chr6:26659983-26659996 chr6:26659985-26659994
5	PML	chr6:26659403-26660709	GM12878	blood:	n/a	n/a
6	CTCF	chr6:26660520-26660670	HCM	heart:	n/a	n/a
7	CTCF	chr6:26660173-26660677	K562	blood:	n/a	chr6:26660509-26660516
8	CTCF	chr6:26660560-26660710	BJ	skin:	n/a	n/a
9	CTCF	chr6:26660540-26660690	AG04450	lung:	n/a	n/a
10	CTCF	chr6:26660520-26660670	A549	lung:	n/a	n/a
11	REST	chr6:26659804-26660736	H1-neurons	neurons:	n/a	chr6:26660346-26660353

No.	Distal block	Cell Line	Cell type
1	chr6:26657992..26660947-chr6:27075942..27078254,2	K562	blood:
2	chr6:26611034..26613549-chr6:26659385..26661970,2	K562	blood:
3	chr6:26649496..26653282-chr6:26658132..26661743,4	MCF-7	breast:
4	chr1:148241064..148241845-chr6:26659899..26660700,2	Hela-S3	cervix:
5	chr6:26660140..26662715-chr6:27107462..27109836,2	K562	blood:
6	chr6:26649055..26652031-chr6:26660039..26662970,2	MCF-7	breast:
7	chr6:26595597..26597403-chr6:26659467..26661984,2	MCF-7	breast:

Variant related genes	Relation type
ZNF322	TF binding region
ENSG00000181315	Chromatin interaction
ENSG00000222800	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000271071	Chromatin interaction
ENSG00000146109	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2130656	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2754715	1.00[CHB][hapmap]
rs72500817	0.83[EUR][1000 genomes]
rs72500818	0.83[EUR][1000 genomes]
rs72500819	1.00[EUR][1000 genomes]
rs7769926	1.00[CHB][hapmap]

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26658200-26660800	Active TSS	Right Atrium	heart
2	chr6:26658400-26660800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:26658600-26660800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:26658600-26660800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:26658600-26660800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:26658600-26660800	Active TSS	Ovary	ovary
7	chr6:26658600-26660800	Active TSS	A549	lung
8	chr6:26658600-26661000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:26658800-26660800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:26658800-26660800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:26658800-26660800	Active TSS	NHLF	lung
12	chr6:26659000-26660800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:26659000-26660800	Active TSS	NHDF-Ad	bronchial
14	chr6:26659200-26660800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:26659200-26660800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:26659200-26660800	Active TSS	Brain Angular Gyrus	brain
17	chr6:26659200-26660800	Active TSS	Brain Anterior Caudate	brain
18	chr6:26659200-26660800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:26659200-26661000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:26659200-26661200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr6:26659400-26660800	Active TSS	Fetal Brain Male	brain
22	chr6:26659400-26661200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:26659600-26660800	Active TSS	Primary T cells from cord blood	blood
24	chr6:26660000-26660800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr6:26660000-26660800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr6:26660200-26660800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:26660200-26660800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:26660200-26660800	Flanking Active TSS	Dnd41	blood
29	chr6:26660200-26660800	Flanking Active TSS	HUVEC	blood vessel
30	chr6:26660200-26660800	Flanking Active TSS	K562	blood
31	chr6:26660200-26660800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:26660400-26660800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr6:26660400-26660800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:26660400-26660800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr6:26660400-26660800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr6:26660400-26660800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr6:26660400-26660800	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr6:26660600-26660800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:26660600-26660800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr6:26660600-26660800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:26660600-26660800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:26660600-26660800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:26660600-26660800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:26660600-26660800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:26660600-26660800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr6:26660600-26660800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:26660600-26660800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:26660600-26660800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:26660600-26660800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr6:26660600-26660800	Enhancers	Primary B cells from cord blood	blood

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