Variant report

Variant	rs72664957
Chromosome Location	chr4:85848673-85848674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10029496	0.80[EUR][1000 genomes]
rs10856851	0.82[EUR][1000 genomes]
rs11097028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730981	0.83[EUR][1000 genomes]
rs12498637	0.82[EUR][1000 genomes]
rs12500519	0.91[EUR][1000 genomes]
rs12501525	0.92[AMR][1000 genomes]
rs12502409	0.84[EUR][1000 genomes]
rs12502559	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12503215	0.82[EUR][1000 genomes]
rs12503330	0.85[EUR][1000 genomes]
rs12506456	0.82[EUR][1000 genomes]
rs12510410	0.81[EUR][1000 genomes]
rs12648852	0.83[EUR][1000 genomes]
rs13109918	0.83[EUR][1000 genomes]
rs13114115	0.81[EUR][1000 genomes]
rs13118671	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13125323	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13139541	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13141072	0.85[EUR][1000 genomes]
rs13141322	0.82[EUR][1000 genomes]
rs1484661	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1508670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009317	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17009334	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17009341	0.83[EUR][1000 genomes]
rs35190829	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35892581	0.91[EUR][1000 genomes]
rs4131745	0.81[EUR][1000 genomes]
rs4383611	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4590017	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55871210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55912355	0.89[EUR][1000 genomes]
rs56094216	0.88[EUR][1000 genomes]
rs58074983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6531777	0.81[EUR][1000 genomes]
rs6531783	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66965560	0.83[EUR][1000 genomes]
rs67624868	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6815917	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820517	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6829807	0.85[EUR][1000 genomes]
rs6833661	0.82[EUR][1000 genomes]
rs6847564	0.85[EUR][1000 genomes]
rs6847811	0.81[EUR][1000 genomes]
rs71631375	0.88[EUR][1000 genomes]
rs72664928	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72664952	0.82[EUR][1000 genomes]
rs7682896	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7690054	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7692223	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7695054	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9684737	0.82[EUR][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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv508295	chr4:85822802-85885027	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:85809000-85872800	Weak transcription	A549	lung
3	chr4:85811800-85851200	Weak transcription	Esophagus	oesophagus
4	chr4:85813000-85858800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:85816000-85852400	Weak transcription	Left Ventricle	heart
6	chr4:85821600-85858400	Weak transcription	Pancreas	Pancrea
7	chr4:85825600-85848800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:85825600-85849000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:85825600-85849000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:85826400-85849200	Weak transcription	Fetal Stomach	stomach
11	chr4:85827200-85848800	Weak transcription	Ovary	ovary
12	chr4:85829200-85850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:85829200-85866200	Weak transcription	Spleen	Spleen
14	chr4:85837600-85858400	Weak transcription	Fetal Brain Female	brain
15	chr4:85837600-85859200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:85837800-85849800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:85837800-85849800	Weak transcription	Fetal Kidney	kidney
18	chr4:85837800-85853200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:85837800-85858000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:85838400-85853800	Weak transcription	Fetal Heart	heart
21	chr4:85838600-85858600	Weak transcription	Liver	Liver
22	chr4:85838600-85858600	Weak transcription	Psoas Muscle	Psoas
23	chr4:85839600-85858400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:85840200-85848800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:85840400-85848800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:85842200-85849200	Weak transcription	NHLF	lung
27	chr4:85842200-85850000	Weak transcription	NH-A	brain
28	chr4:85842200-85852400	Weak transcription	Adipose Nuclei	Adipose
29	chr4:85842200-85857800	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:85842400-85850000	Weak transcription	HSMMtube	muscle
31	chr4:85842400-85858400	Weak transcription	HMEC	breast
32	chr4:85842600-85849000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:85842800-85858000	Weak transcription	HUVEC	blood vessel
34	chr4:85844000-85849200	Weak transcription	Lung	lung
35	chr4:85844400-85848800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:85844400-85848800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:85844400-85854400	Weak transcription	HepG2	liver
38	chr4:85844600-85854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:85845200-85850200	Weak transcription	Placenta	Placenta
40	chr4:85845600-85850000	Weak transcription	NHDF-Ad	bronchial
41	chr4:85845600-85882800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:85846000-85852400	Weak transcription	NHEK	skin
43	chr4:85846400-85852400	Weak transcription	Brain Angular Gyrus	brain
44	chr4:85846400-85858400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:85846600-85852600	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:85846600-85858200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:85846800-85850200	Weak transcription	Right Ventricle	heart
48	chr4:85846800-85852400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:85846800-85852600	Weak transcription	Brain Anterior Caudate	brain
50	chr4:85847000-85849000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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