Variant report

Variant	rs28544421
Chromosome Location	chr4:151596942-151596943
allele	C/T
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:48)

rs_ID	r²[population]
rs10004115	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10013523	0.94[AFR][1000 genomes]
rs10017937	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10021640	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10026518	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10028040	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10034965	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857249	0.94[AFR][1000 genomes]
rs10857251	0.81[AFR][1000 genomes]
rs11099775	0.94[AFR][1000 genomes]
rs12505123	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1289963	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13121304	0.94[AFR][1000 genomes]
rs13145181	0.94[AFR][1000 genomes]
rs13340305	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17027065	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17027116	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1947315	0.94[AFR][1000 genomes]
rs1966844	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2198190	0.82[AFR][1000 genomes]
rs28379788	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28501240	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28521457	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28539520	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28540258	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28558492	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28572569	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28591543	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28627398	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28630451	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28641948	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28802622	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs294528	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4260528	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4336207	0.94[AFR][1000 genomes]
rs57790879	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6838530	0.82[AFR][1000 genomes]
rs6841524	0.96[AFR][1000 genomes]
rs6849364	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6858706	0.90[EUR][1000 genomes]
rs7655913	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7672144	0.82[AFR][1000 genomes]
rs7683591	0.84[AFR][1000 genomes]
rs7690485	0.90[AFR][1000 genomes]
rs9884181	0.94[AFR][1000 genomes]
rs9884732	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9884963	0.94[AFR][1000 genomes]
rs9996572	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 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	chr4:151571200-151601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:151571200-151604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:151574800-151601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
6	chr4:151579400-151604400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
8	chr4:151583400-151603400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:151586000-151600800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:151586400-151604800	Weak transcription	HSMM	muscle
11	chr4:151587000-151600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:151587000-151600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:151587000-151603400	Weak transcription	Aorta	Aorta
14	chr4:151587000-151604600	Weak transcription	Small Intestine	intestine
15	chr4:151587400-151605000	Weak transcription	GM12878-XiMat	blood
16	chr4:151590200-151601000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:151590800-151603200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:151591200-151599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:151591200-151607600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:151593200-151604400	Weak transcription	Primary B cells from cord blood	blood
21	chr4:151593200-151605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:151593200-151610800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:151596000-151605800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:151596000-151608600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:151596400-151603200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:151596600-151602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:151596800-151601800	Weak transcription	Fetal Intestine Small	intestine

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