Variant report

Variant	rs72664316
Chromosome Location	chr1:56959556-56959557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56958554..56961022-chr1:56963206..56965954,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11206807	1.00[ASN][1000 genomes]
rs11206808	1.00[ASN][1000 genomes]
rs12122628	1.00[ASN][1000 genomes]
rs12137498	1.00[ASN][1000 genomes]
rs17406943	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780865	1.00[ASN][1000 genomes]
rs35064883	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912172	1.00[ASN][1000 genomes]
rs4912275	1.00[ASN][1000 genomes]
rs4912305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027745	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662266	1.00[ASN][1000 genomes]
rs72662267	1.00[ASN][1000 genomes]
rs72662283	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662289	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662291	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72662298	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664306	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664313	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554557	0.85[EUR][1000 genomes]
rs914837	1.00[ASN][1000 genomes]
rs9437005	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56944400-56959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:56944800-56960800	Weak transcription	Fetal Kidney	kidney
3	chr1:56948800-56965200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:56955200-56961000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:56955400-56960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:56956000-56960800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:56956400-56961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:56956600-56959600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:56956600-56959800	Weak transcription	Fetal Thymus	thymus
10	chr1:56956600-56961200	Weak transcription	A549	lung
11	chr1:56957000-56959600	Strong transcription	Fetal Intestine Large	intestine
12	chr1:56957200-56962400	Genic enhancers	Placenta	Placenta
13	chr1:56957400-56963800	Genic enhancers	NHDF-Ad	bronchial
14	chr1:56957400-56971800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:56957600-56959600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:56957600-56959600	Weak transcription	HSMMtube	muscle
17	chr1:56957600-56959800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:56957600-56960000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:56957600-56961000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:56957600-56961200	Weak transcription	NH-A	brain
21	chr1:56957600-56971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:56957800-56961000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:56957800-56961600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:56957800-56963800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:56957800-56963800	Weak transcription	Small Intestine	intestine
26	chr1:56957800-56971800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:56957800-56975600	Weak transcription	Fetal Brain Female	brain
28	chr1:56958000-56959600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:56958000-56959600	Weak transcription	Brain Substantia Nigra	brain
30	chr1:56958000-56959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:56958000-56960000	Weak transcription	Pancreas	Pancrea
32	chr1:56958000-56961000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:56958000-56961000	Weak transcription	Gastric	stomach
34	chr1:56958000-56961000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:56958000-56961000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:56958000-56975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:56958000-56977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:56958200-56959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:56958200-56960200	Weak transcription	Right Atrium	heart
40	chr1:56958200-56961000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:56958200-56961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:56958200-56961000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:56958200-56963000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:56958200-56963400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:56958200-56971600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:56958400-56959600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:56958400-56960000	Weak transcription	Esophagus	oesophagus
48	chr1:56958400-56960000	Weak transcription	Right Ventricle	heart
49	chr1:56958400-56960800	Enhancers	HepG2	liver
50	chr1:56958400-56961000	Weak transcription	Thymus	Thymus

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