Variant report

Variant	rs11728745
Chromosome Location	chr4:151224250-151224251
allele	C/T
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	JUND	chr4:151223457-151224262	SK-N-SH	brain:	n/a	chr4:151223762-151223771 chr4:151223763-151223770 chr4:151223762-151223770
2	JUN	chr4:151223432-151224300	K562	blood:	n/a	chr4:151223762-151223771 chr4:151223763-151223770 chr4:151223762-151223770
3	CTCF	chr4:151224143-151224339	K562	blood:	n/a	n/a
4	CUX1	chr4:151224229-151224253	GM12878	blood:	n/a	n/a
5	STAT3	chr4:151223713-151224371	MCF10A-Er-Src	breast:	n/a	chr4:151223761-151223770 chr4:151223762-151223771

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151224130..151227039-chr4:151238410..151241620,3	K562	blood:

Variant related genes	Relation type
LRBA	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11722135	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723398	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734242	0.85[AFR][1000 genomes]
rs11734641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734677	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734774	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736470	0.85[AFR][1000 genomes]
rs11737203	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11737450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11936019	0.85[AFR][1000 genomes]
rs11940101	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs11946787	0.82[AMR][1000 genomes]
rs1507190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1507191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17503964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17504117	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17588629	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2056457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35750119	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3749574	0.86[AFR][1000 genomes]
rs4370117	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4696083	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696087	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696299	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55795432	0.82[AMR][1000 genomes]
rs55875525	0.85[AFR][1000 genomes]
rs55889963	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56004102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169929	0.86[AFR][1000 genomes]
rs56198556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56374126	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56398631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58138000	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59713336	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60105956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60459852	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61269060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62344508	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62344542	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344543	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344544	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344694	0.85[AFR][1000 genomes]
rs62344697	0.85[AFR][1000 genomes]
rs62346984	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62346985	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62346990	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62346996	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs67227188	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834124	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72734403	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	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	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11728745	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
2	chr4:151192400-151232800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:151203800-151244400	Weak transcription	Fetal Thymus	thymus
4	chr4:151204000-151244600	Weak transcription	Lung	lung
5	chr4:151204600-151236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:151204600-151242200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:151205000-151236400	Weak transcription	Primary B cells from cord blood	blood
8	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:151207200-151226600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:151207600-151241600	Weak transcription	Fetal Intestine Large	intestine
11	chr4:151208000-151230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:151208600-151230400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:151210800-151231400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:151211200-151227000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151211200-151236200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:151213400-151229000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:151213400-151242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:151213600-151226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151213600-151231000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:151213800-151236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:151221800-151231200	Weak transcription	Fetal Heart	heart
22	chr4:151221800-151236200	Weak transcription	Left Ventricle	heart
23	chr4:151221800-151259600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:151222200-151229000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:151222800-151224600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:151222800-151224600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:151222800-151224600	Enhancers	Osteobl	bone
28	chr4:151222800-151224800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:151223000-151224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:151223000-151224400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:151223000-151224400	Enhancers	HUVEC	blood vessel
32	chr4:151223200-151224400	Enhancers	NHDF-Ad	bronchial
33	chr4:151223200-151224400	Enhancers	NHLF	lung
34	chr4:151223200-151226600	Weak transcription	A549	lung
35	chr4:151223200-151237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:151223400-151224400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:151223400-151224400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:151223600-151224400	Enhancers	HMEC	breast
39	chr4:151223800-151224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:151223800-151224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:151223800-151224400	Enhancers	K562	blood
42	chr4:151223800-151224400	Enhancers	NHEK	skin
43	chr4:151223800-151237800	Weak transcription	Pancreas	Pancrea
44	chr4:151224000-151224400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:151224000-151227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:151224000-151259000	Weak transcription	Ovary	ovary
47	chr4:151224200-151226000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:151224200-151226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:151224200-151226200	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:151224200-151226200	Weak transcription	NH-A	brain

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