Variant report

Variant	rs950733
Chromosome Location	chr1:78103479-78103480
allele	G/T
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	MAFF	chr1:78103386-78103539	HepG2	liver:	n/a	n/a
2	MAFK	chr1:78103277-78103540	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:78095441..78097621-chr1:78101963..78104284,2	MCF-7	breast:
2	chr1:78102953..78105549-chr1:78108129..78110089,2	MCF-7	breast:
3	chr1:78054448..78057258-chr1:78101287..78103947,2	K562	blood:

Variant related genes	Relation type
ZZZ3	TF binding region
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10518561	1.00[LWK][hapmap]
rs12038908	0.81[AFR][1000 genomes]
rs17100848	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34535037	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60832898	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78085400-78104600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:78086400-78104400	Weak transcription	Stomach Mucosa	stomach
4	chr1:78089800-78107400	Strong transcription	Primary B cells from cord blood	blood
5	chr1:78090000-78104000	Strong transcription	HSMM	muscle
6	chr1:78090200-78107400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:78092800-78107400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:78094200-78105000	Strong transcription	Primary T cells from cord blood	blood
9	chr1:78094200-78107400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:78094400-78107200	Strong transcription	Fetal Thymus	thymus
11	chr1:78094800-78113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:78096200-78110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:78096200-78111000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:78097200-78104400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:78098400-78105800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:78098400-78113400	Weak transcription	Pancreas	Pancrea
17	chr1:78098400-78116800	Weak transcription	Right Ventricle	heart
18	chr1:78098600-78104400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:78098600-78106600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:78098600-78110600	Weak transcription	Lung	lung
21	chr1:78098600-78111400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:78098600-78113200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:78098800-78103800	Weak transcription	HSMMtube	muscle
24	chr1:78098800-78104600	Weak transcription	A549	lung
25	chr1:78098800-78106400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:78098800-78106600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:78098800-78106600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:78098800-78108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:78098800-78110200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:78098800-78110600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:78099000-78103800	Weak transcription	Fetal Heart	heart
32	chr1:78099000-78108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:78099000-78108200	Weak transcription	Colonic Mucosa	Colon
34	chr1:78099000-78110200	Weak transcription	Placenta	Placenta
35	chr1:78099000-78110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:78099000-78110600	Weak transcription	Esophagus	oesophagus
37	chr1:78099000-78110600	Weak transcription	Ovary	ovary
38	chr1:78099000-78110600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:78099000-78110600	Weak transcription	Thymus	Thymus
40	chr1:78099000-78111600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:78099000-78112600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:78099000-78113800	Weak transcription	Fetal Brain Male	brain
43	chr1:78099000-78113800	Weak transcription	Spleen	Spleen
44	chr1:78099000-78147200	Weak transcription	Gastric	stomach
45	chr1:78099200-78104400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:78099200-78104400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:78099200-78104600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:78099200-78110400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:78099200-78110400	Weak transcription	Fetal Brain Female	brain
50	chr1:78099200-78110600	Weak transcription	Left Ventricle	heart

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