Variant report

Variant	rs72722620
Chromosome Location	chr8:126399219-126399220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126398698..126402201-chr8:126441095..126443608,4	K562	blood:
2	chr8:126397190..126399796-chr8:126399864..126401786,2	K562	blood:
3	chr8:126398698..126401138-chr8:126441095..126444131,3	K562	blood:
4	chr8:126394870..126400757-chr8:126440736..126444862,8	MCF-7	breast:
5	chr8:126398403..126400666-chr8:126403364..126405825,2	K562	blood:
6	chr8:126395134..126397539-chr8:126398871..126401287,2	K562	blood:
7	chr8:126398318..126400845-chr8:126403927..126407917,3	MCF-7	breast:
8	chr8:126398357..126400534-chr8:126411877..126414417,2	K562	blood:
9	chr8:126322565..126325543-chr8:126398051..126400754,2	K562	blood:
10	chr8:126396237..126399236-chr8:126405521..126409652,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3812467	0.93[AFR][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	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126384200-126400200	Weak transcription	NHLF	lung
2	chr8:126393800-126399600	Enhancers	K562	blood
3	chr8:126396400-126400400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:126397600-126399800	Enhancers	NH-A	brain
5	chr8:126397600-126400400	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:126397800-126399400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:126397800-126399400	Enhancers	Fetal Brain Male	brain
8	chr8:126397800-126399600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:126397800-126399600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:126397800-126399600	Enhancers	Pancreas	Pancrea
11	chr8:126397800-126399800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:126398000-126399400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:126398000-126401400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:126398200-126399400	Enhancers	Stomach Mucosa	stomach
15	chr8:126398200-126399400	Enhancers	A549	lung
16	chr8:126398200-126399600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126398200-126399600	Flanking Active TSS	Hela-S3	cervix
18	chr8:126398200-126400400	Weak transcription	NHDF-Ad	bronchial
19	chr8:126398400-126399400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:126398400-126399400	Enhancers	Adipose Nuclei	Adipose
21	chr8:126398400-126399400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:126398400-126399400	Enhancers	Fetal Heart	heart
23	chr8:126398400-126399400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr8:126398400-126399400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:126398400-126399600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:126398400-126399800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:126398400-126399800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr8:126398400-126400000	Enhancers	Lung	lung
29	chr8:126398400-126400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:126398400-126401600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:126398600-126399400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:126398600-126399400	Enhancers	Fetal Lung	lung
33	chr8:126398600-126399600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:126398600-126399800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:126398600-126400200	Weak transcription	Fetal Thymus	thymus
36	chr8:126398600-126404000	Weak transcription	Esophagus	oesophagus
37	chr8:126398800-126399400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:126398800-126399400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:126398800-126399400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:126398800-126399400	Enhancers	Brain Germinal Matrix	brain
41	chr8:126398800-126399400	Enhancers	Brain Hippocampus Middle	brain
42	chr8:126398800-126399400	Enhancers	Duodenum Mucosa	Duodenum
43	chr8:126398800-126400200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:126398800-126400400	Enhancers	Fetal Brain Female	brain
45	chr8:126398800-126400400	Weak transcription	HSMM	muscle
46	chr8:126398800-126400400	Weak transcription	HSMMtube	muscle
47	chr8:126398800-126400400	Weak transcription	HUVEC	blood vessel
48	chr8:126398800-126400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:126398800-126400600	Weak transcription	Placenta	Placenta
50	chr8:126398800-126400600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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