Variant report

Variant	rs4330340
Chromosome Location	chr4:151534875-151534876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10000491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10000655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025007	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155442	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099773	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099774	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931175	0.87[EUR][1000 genomes]
rs12108435	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499862	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508892	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642528	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111441	0.82[EUR][1000 genomes]
rs13144332	0.82[EUR][1000 genomes]
rs1504781	0.82[EUR][1000 genomes]
rs1504784	0.92[EUR][1000 genomes]
rs1532822	0.87[EUR][1000 genomes]
rs28451271	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235250	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269161	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270570	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289432	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4311291	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327465	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328896	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355367	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376124	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4396972	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417951	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450905	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476581	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533751	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568218	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4604037	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619872	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619873	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696186	0.87[EUR][1000 genomes]
rs4696214	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696537	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696629	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6535744	0.82[AMR][1000 genomes]
rs68016242	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818709	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825990	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6826248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832498	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6839548	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846154	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852493	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852703	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6855667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858267	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671045	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674989	0.82[EUR][1000 genomes]
rs7686220	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692615	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905767	0.82[EUR][1000 genomes]
rs9790393	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995388	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995612	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv880261	chr4:151521933-151588483	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:151501200-151559800	Weak transcription	Ovary	ovary
5	chr4:151505400-151542200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:151509800-151540200	Weak transcription	GM12878-XiMat	blood
7	chr4:151511000-151542800	Weak transcription	K562	blood
8	chr4:151512400-151556000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:151512800-151550800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:151520400-151540200	Weak transcription	Fetal Intestine Large	intestine
11	chr4:151520400-151541200	Weak transcription	Aorta	Aorta
12	chr4:151520400-151556200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:151520600-151538600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:151520600-151539600	Weak transcription	Left Ventricle	heart
15	chr4:151520600-151540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:151520600-151540400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:151520600-151540400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:151520600-151540600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:151520600-151540800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:151520600-151543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:151520600-151553800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:151522600-151539600	Weak transcription	Psoas Muscle	Psoas
23	chr4:151531000-151553600	Weak transcription	Primary B cells from cord blood	blood
24	chr4:151533400-151553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:151533400-151596200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:151534000-151537200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:151534600-151537400	Strong transcription	Primary T cells from cord blood	blood
28	chr4:151534800-151535200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:151534800-151537800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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