Variant report

Variant	rs72664952
Chromosome Location	chr4:85847091-85847092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10029496	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10856851	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10856852	0.88[EUR][1000 genomes]
rs11097026	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11730981	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11732309	0.86[EUR][1000 genomes]
rs11732347	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12498637	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12498787	0.85[EUR][1000 genomes]
rs12503215	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12506456	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12510410	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640378	0.84[EUR][1000 genomes]
rs12648852	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13109918	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13114115	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13124246	0.85[EUR][1000 genomes]
rs13141322	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13148035	0.84[EUR][1000 genomes]
rs1484660	0.85[AMR][1000 genomes]
rs1508670	0.81[EUR][1000 genomes]
rs17009341	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046402	0.84[AMR][1000 genomes]
rs2046404	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28754901	0.88[EUR][1000 genomes]
rs34239067	0.84[EUR][1000 genomes]
rs34314581	0.86[EUR][1000 genomes]
rs4131745	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4376130	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4464556	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4470615	0.83[EUR][1000 genomes]
rs4533765	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4624645	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4626191	0.85[EUR][1000 genomes]
rs4634212	0.82[EUR][1000 genomes]
rs56194765	0.86[EUR][1000 genomes]
rs6531777	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531782	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67045782	0.88[AMR][1000 genomes]
rs6833661	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6847811	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857555	0.85[AMR][1000 genomes]
rs72664934	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72664957	0.82[EUR][1000 genomes]
rs7654035	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7661609	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7663580	0.86[EUR][1000 genomes]
rs7675324	0.85[EUR][1000 genomes]
rs7694949	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7699226	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9684737	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9790649	0.84[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85781800-85848600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:85809000-85872800	Weak transcription	A549	lung
4	chr4:85811800-85851200	Weak transcription	Esophagus	oesophagus
5	chr4:85813000-85858800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:85816000-85852400	Weak transcription	Left Ventricle	heart
7	chr4:85821600-85858400	Weak transcription	Pancreas	Pancrea
8	chr4:85825400-85848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:85825400-85848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:85825600-85848800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:85825600-85849000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:85825600-85849000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:85826400-85849200	Weak transcription	Fetal Stomach	stomach
14	chr4:85827200-85848800	Weak transcription	Ovary	ovary
15	chr4:85829200-85850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:85829200-85866200	Weak transcription	Spleen	Spleen
17	chr4:85835000-85848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:85835200-85848400	Weak transcription	Fetal Lung	lung
19	chr4:85837600-85858400	Weak transcription	Fetal Brain Female	brain
20	chr4:85837600-85859200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:85837800-85849800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:85837800-85849800	Weak transcription	Fetal Kidney	kidney
23	chr4:85837800-85853200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:85837800-85858000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:85838200-85848400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:85838200-85848600	Weak transcription	Brain Germinal Matrix	brain
27	chr4:85838400-85853800	Weak transcription	Fetal Heart	heart
28	chr4:85838600-85848600	Weak transcription	Aorta	Aorta
29	chr4:85838600-85858600	Weak transcription	Liver	Liver
30	chr4:85838600-85858600	Weak transcription	Psoas Muscle	Psoas
31	chr4:85839600-85858400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:85839800-85848600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:85840200-85848800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:85840400-85848800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:85842000-85848600	Weak transcription	Gastric	stomach
36	chr4:85842200-85848400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr4:85842200-85848600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:85842200-85848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:85842200-85849200	Weak transcription	NHLF	lung
40	chr4:85842200-85850000	Weak transcription	NH-A	brain
41	chr4:85842200-85852400	Weak transcription	Adipose Nuclei	Adipose
42	chr4:85842200-85857800	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:85842400-85848400	Weak transcription	HSMM	muscle
44	chr4:85842400-85848600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:85842400-85850000	Weak transcription	HSMMtube	muscle
46	chr4:85842400-85858400	Weak transcription	HMEC	breast
47	chr4:85842600-85848200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:85842600-85848400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:85842600-85848400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:85842600-85848400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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