Variant report

Variant	rs72947118
Chromosome Location	chr4:144271354-144271355
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	GATA1	chr4:144271273-144271663	PBDE	blood:	n/a	n/a
2	POLR2A	chr4:144270808-144271374	GM12878	blood:	n/a	n/a
3	ZBTB33	chr4:144270390-144271441	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144263524..144266219-chr4:144271347..144273028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228981	TF binding region
ENSG00000265623	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17017563	1.00[ASN][1000 genomes]
rs17017629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17017662	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377860	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448391	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28676298	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680635	1.00[ASN][1000 genomes]
rs6825973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv964100	chr4:144268743-144271466	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144259200-144272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:144259400-144272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:144259400-144272600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:144259600-144276200	Weak transcription	Fetal Kidney	kidney
5	chr4:144260000-144272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:144261600-144272600	Weak transcription	Adipose Nuclei	Adipose
7	chr4:144263000-144276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
9	chr4:144264000-144276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:144265600-144272000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:144265600-144276400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:144265800-144272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:144265800-144276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:144266200-144272200	Weak transcription	Brain Germinal Matrix	brain
15	chr4:144266800-144272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:144267400-144272800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:144267400-144272800	Weak transcription	Osteobl	bone
18	chr4:144267800-144272200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:144267800-144272200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:144267800-144272200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:144267800-144272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:144267800-144272600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:144267800-144272800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:144268000-144272000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:144268000-144272800	Weak transcription	HSMM	muscle
26	chr4:144268600-144273800	Enhancers	Placenta	Placenta
27	chr4:144268800-144272200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:144268800-144272400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:144268800-144272600	Weak transcription	Liver	Liver
30	chr4:144268800-144273200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:144269000-144271400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:144269000-144272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:144269000-144272400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:144269000-144272600	Weak transcription	Aorta	Aorta
35	chr4:144269000-144272800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:144269200-144272800	Weak transcription	Small Intestine	intestine
37	chr4:144269200-144272800	Weak transcription	NHLF	lung
38	chr4:144269600-144272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:144269600-144272600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:144269800-144272200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:144269800-144272400	Strong transcription	Fetal Stomach	stomach
42	chr4:144269800-144272600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:144269800-144272800	Weak transcription	Primary B cells from cord blood	blood
44	chr4:144269800-144276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:144270000-144271400	Weak transcription	Pancreas	Pancrea
46	chr4:144270000-144272000	Weak transcription	Brain Angular Gyrus	brain
47	chr4:144270000-144272000	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:144270000-144272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:144270000-144272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:144270000-144272400	Weak transcription	Lung	lung

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