Variant report

Variant	rs73407250
Chromosome Location	chr6:28832988-28832989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28832767-28833855	PFSK-1	brain:	n/a	n/a
2	ELK4	chr6:28832836-28833683	HEK293	kidney:	n/a	n/a
3	POLR2A	chr6:28832988-28834982	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr6:28832668-28833841	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:28832959-28835175	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr6:28832611-28835238	PBDE	blood:	n/a	n/a
7	POLR2A	chr6:28832950-28833870	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:28832541-28834008	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:28803282..28808663-chr6:28829877..28836776,13	K562	blood:
2	chr6:26156500..26158004-chr6:28832615..28834649,2	K562	blood:
3	chr6:28832887..28834550-chr6:28979904..28981561,2	K562	blood:
4	chr6:28831633..28833233-chr6:28890419..28893119,2	K562	blood:
5	chr6:28802885..28808466-chr6:28831550..28836351,8	MCF-7	breast:
6	chr6:28832613..28834387-chr6:28980061..28982005,2	K562	blood:
7	chr6:28803282..28808495-chr6:28830531..28834946,8	K562	blood:
8	chr6:28828478..28839935-chr6:28855092..28866386,31	K562	blood:
9	chr6:28830882..28836292-chr6:28860588..28866545,10	MCF-7	breast:
10	chr6:28831130..28836886-chr6:28890033..28892870,9	MCF-7	breast:
11	chr6:28831640..28835125-chr6:28890004..28893108,3	MCF-7	breast:
12	chr6:28823126..28835109-chr6:28859268..28867076,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225595	TF binding region
ENSG00000225173	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000233366	Chromatin interaction
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1925764	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6929090	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935576	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73403168	0.86[EUR][1000 genomes]
rs73403188	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73407249	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739709	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7762991	0.83[ASN][1000 genomes]
rs7763504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468430	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9501112	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9501420	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28830400-28833000	Active TSS	Fetal Brain Female	brain
2	chr6:28830600-28834800	Active TSS	A549	lung
3	chr6:28831000-28834800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:28831000-28835000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:28832200-28833000	Flanking Active TSS	K562	blood
6	chr6:28832400-28833400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:28832400-28834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28832600-28833000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:28832600-28833000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:28832600-28833000	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:28832600-28833200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:28832600-28833200	Weak transcription	Placenta	Placenta
13	chr6:28832600-28833200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:28832600-28833200	Weak transcription	GM12878-XiMat	blood
15	chr6:28832600-28833400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:28832600-28833400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:28832600-28833400	Weak transcription	Adipose Nuclei	Adipose
18	chr6:28832600-28833400	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:28832600-28833400	Weak transcription	Esophagus	oesophagus
20	chr6:28832600-28833600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:28832600-28833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:28832600-28833600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:28832600-28833600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:28832600-28833800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:28832600-28833800	Weak transcription	Fetal Kidney	kidney
26	chr6:28832600-28834000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:28832600-28834000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:28832600-28834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:28832600-28834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:28832600-28834000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:28832600-28834000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:28832600-28834000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr6:28832600-28834000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:28832600-28834000	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:28832600-28834000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:28832600-28834000	Weak transcription	Brain Substantia Nigra	brain
37	chr6:28832600-28834000	Weak transcription	Colonic Mucosa	Colon
38	chr6:28832600-28834000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:28832600-28834000	Weak transcription	Pancreas	Pancrea
40	chr6:28832600-28834000	Weak transcription	Right Atrium	heart
41	chr6:28832600-28834000	Weak transcription	HSMMtube	muscle
42	chr6:28832600-28834000	Weak transcription	Osteobl	bone
43	chr6:28832600-28834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:28832600-28834200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:28832600-28834200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:28832600-28834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:28832600-28834200	Weak transcription	Aorta	Aorta
48	chr6:28832600-28834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:28832600-28834200	Weak transcription	Gastric	stomach
50	chr6:28832600-28834200	Weak transcription	Left Ventricle	heart

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