Variant report

Variant	rs12648307
Chromosome Location	chr4:151319244-151319245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10027598	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029305	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099766	0.83[ASN][1000 genomes]
rs11931175	0.83[ASN][1000 genomes]
rs12331720	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12512600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105658	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111441	0.81[EUR][1000 genomes]
rs13144332	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1504780	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504781	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1532822	0.83[ASN][1000 genomes]
rs17504421	0.80[AMR][1000 genomes]
rs1910720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1966052	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2001835	0.87[ASN][1000 genomes]
rs2134958	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134960	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2135780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2174366	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884894	0.86[EUR][1000 genomes]
rs4396971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4639047	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696186	0.83[ASN][1000 genomes]
rs6535736	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832193	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834928	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666634	0.81[ASN][1000 genomes]
rs7667511	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7670869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674989	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7676219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678429	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7678875	0.90[EUR][1000 genomes]
rs7689850	0.84[EUR][1000 genomes]
rs7698007	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7698975	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs905767	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9307876	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151272000-151371400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:151286600-151355600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:151290200-151367400	Weak transcription	K562	blood
4	chr4:151292400-151361000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151307000-151348800	Weak transcription	Aorta	Aorta
6	chr4:151307200-151323400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:151307200-151324000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:151307200-151324200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:151307200-151332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:151309600-151332600	Weak transcription	Stomach Mucosa	stomach
11	chr4:151311600-151343800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:151312800-151332400	Weak transcription	Primary B cells from cord blood	blood
13	chr4:151313200-151358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:151313600-151358000	Weak transcription	GM12878-XiMat	blood
15	chr4:151314000-151324200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:151314200-151324200	Weak transcription	Pancreas	Pancrea
17	chr4:151314600-151320600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:151314600-151320800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:151314600-151332600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:151314600-151342800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:151314800-151321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:151315000-151320400	Weak transcription	Fetal Intestine Large	intestine
23	chr4:151315000-151324200	Weak transcription	Lung	lung
24	chr4:151315000-151324200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:151315000-151332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:151315600-151344000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:151315800-151324200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:151315800-151325200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:151315800-151359400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:151317400-151358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:151317800-151324000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:151318400-151322600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:151319000-151324000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:151319000-151371000	Weak transcription	Left Ventricle	heart
35	chr4:151319200-151328600	Weak transcription	Adipose Nuclei	Adipose

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