Variant report

Variant	rs11727995
Chromosome Location	chr4:151424199-151424200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11721723	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11722416	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11726007	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11727758	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11729560	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11731650	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11737261	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931161	0.83[EUR][1000 genomes]
rs11932482	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11936019	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11936496	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11936646	0.82[EUR][1000 genomes]
rs11937036	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11940101	0.82[EUR][1000 genomes]
rs17504602	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17504868	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17588965	0.82[EUR][1000 genomes]
rs17589182	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17589398	0.81[ASN][1000 genomes]
rs2271043	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2292122	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36187100	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4413388	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4419457	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4593110	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696185	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696458	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55875525	0.81[EUR][1000 genomes]
rs55977492	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55998463	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56671775	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57452017	0.83[ASN][1000 genomes]
rs58633621	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62344660	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62344663	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62344664	0.94[ASN][1000 genomes]
rs62344694	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62344697	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62344699	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62344702	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62344705	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62344742	0.83[ASN][1000 genomes]
rs62348579	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62348580	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62348581	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72734459	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72734461	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72734468	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72734475	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734477	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734478	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72734489	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72734495	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7687343	0.81[EUR][1000 genomes]
rs7690365	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	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
4	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
5	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
6	esv3445246	chr4:151422396-151447936	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11727995	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151392200-151424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:151400000-151434200	Weak transcription	Primary T cells from cord blood	blood
4	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:151412000-151424200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151412200-151424200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:151419200-151431000	Weak transcription	Fetal Stomach	stomach
9	chr4:151419200-151436000	Weak transcription	Stomach Mucosa	stomach
10	chr4:151422600-151438400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:151422800-151474600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:151423600-151426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:151423800-151424400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr4:151423800-151424600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr4:151423800-151424800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:151423800-151431000	Weak transcription	Osteobl	bone
17	chr4:151424000-151425000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:151424000-151425600	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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