Variant report

Variant	rs991529
Chromosome Location	chr4:151495331-151495332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr4:151495274-151495394	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151494137..151496884-chr4:151503865..151506422,4	K562	blood:
2	chr4:151493789..151495576-chr4:151498523..151500498,2	MCF-7	breast:
3	chr4:151492559..151495531-chr4:151941599..151944271,2	K562	blood:
4	chr4:151487662..151490527-chr4:151494648..151496977,2	K562	blood:
5	chr4:151491888..151494429-chr4:151494545..151497741,3	K562	blood:
6	chr4:151491074..151493388-chr4:151494822..151496544,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249690	TF binding region
ENSG00000249690	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10006803	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10012087	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10015104	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10018886	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10022844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030673	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12649589	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13124512	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13134428	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13145262	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13151692	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1394496	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1504785	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1566867	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1857750	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1976494	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7686589	0.95[TSI][hapmap]
rs7690080	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9993229	0.92[CEU][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs9994153	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999828	0.81[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs991529	LRBA	Cis_1M	lymphoblastoid	RTeQTL
rs991529	TMEM184C	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151470400-151503600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:151472000-151501400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:151472600-151500200	Weak transcription	Aorta	Aorta
4	chr4:151477200-151502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:151479400-151500800	Weak transcription	Lung	lung
6	chr4:151479600-151501800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:151480600-151500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:151481200-151500400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:151486600-151499800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:151486600-151500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:151486600-151500000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:151486600-151500200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:151486600-151500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:151486600-151503200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:151487000-151502400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:151487000-151503200	Weak transcription	Primary B cells from cord blood	blood
18	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:151490800-151499000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:151490800-151503800	Weak transcription	HMEC	breast
21	chr4:151491200-151499000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:151491600-151499800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:151491600-151500000	Weak transcription	HSMM	muscle
24	chr4:151491600-151501400	Weak transcription	Primary T cells from cord blood	blood
25	chr4:151492200-151500400	Weak transcription	Esophagus	oesophagus
26	chr4:151493600-151496200	Enhancers	A549	lung
27	chr4:151493800-151495600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:151494000-151495600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:151494000-151500800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:151494400-151495400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:151494400-151498000	Active TSS	Colon Smooth Muscle	Colon
32	chr4:151494400-151499000	Weak transcription	Fetal Intestine Large	intestine
33	chr4:151494400-151499800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:151494400-151500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:151494400-151500800	Weak transcription	Gastric	stomach
36	chr4:151494400-151500800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:151494600-151495600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:151494600-151500000	Weak transcription	Pancreas	Pancrea
39	chr4:151494600-151500800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:151494600-151500800	Weak transcription	Left Ventricle	heart
41	chr4:151494800-151496200	Enhancers	K562	blood
42	chr4:151495000-151495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:151495000-151496000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:151495000-151499400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:151495000-151499800	Weak transcription	Osteobl	bone
46	chr4:151495000-151500000	Weak transcription	NH-A	brain
47	chr4:151495200-151499800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:151495200-151500200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:151495200-151500400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:151495200-151504000	Weak transcription	NHEK	skin

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