Variant report

Variant	rs9993148
Chromosome Location	chr4:151502159-151502160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:151499806-151506108	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAB21L2-1	chr4:151500756-151502697	ENSG00000249690

Variant related genes	Relation type
MAB21L2	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10035076	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1032854	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1504783	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1857751	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4696518	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7674861	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats 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
rs9993148	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151470400-151503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:151477200-151502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr4:151486600-151503200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:151487000-151502400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:151487000-151503200	Weak transcription	Primary B cells from cord blood	blood
7	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:151490800-151503800	Weak transcription	HMEC	breast
9	chr4:151495200-151504000	Weak transcription	NHEK	skin
10	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:151498600-151503400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:151499000-151503600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:151499000-151513000	Active TSS	Colon Smooth Muscle	Colon
14	chr4:151499000-151513200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:151499200-151504000	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:151499800-151506000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:151500000-151503600	Active TSS	Colonic Mucosa	Colon
18	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:151500600-151502200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:151500800-151505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:151500800-151505600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr4:151500800-151511800	Active TSS	Osteobl	bone
23	chr4:151500800-151520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:151501000-151505200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:151501200-151503400	Weak transcription	Esophagus	oesophagus
26	chr4:151501200-151503800	Weak transcription	Brain Angular Gyrus	brain
27	chr4:151501200-151504000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:151501200-151504000	Weak transcription	Gastric	stomach
29	chr4:151501200-151504000	Weak transcription	Pancreas	Pancrea
30	chr4:151501200-151506400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:151501200-151559800	Weak transcription	Ovary	ovary
32	chr4:151501400-151502400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:151501400-151502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:151501400-151502800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:151501400-151502800	Weak transcription	Liver	Liver
36	chr4:151501400-151502800	Weak transcription	Right Ventricle	heart
37	chr4:151501400-151503000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:151501400-151503000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:151501400-151503200	Weak transcription	Left Ventricle	heart
40	chr4:151501400-151503200	Weak transcription	NHDF-Ad	bronchial
41	chr4:151501400-151503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:151501400-151503600	Weak transcription	Right Atrium	heart
43	chr4:151501400-151503800	Weak transcription	Aorta	Aorta
44	chr4:151501400-151503800	Weak transcription	HUVEC	blood vessel
45	chr4:151501400-151504000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:151501400-151504000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:151501400-151504000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:151501400-151504000	Weak transcription	Psoas Muscle	Psoas
49	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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