Variant report

Variant	rs10006803
Chromosome Location	chr4:151501208-151501209
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:151500680-151501309	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr4:151500564-151501506	K562	blood:	n/a	n/a
3	CTBP2	chr4:151500334-151501411	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB33	chr4:151500661-151501394	K562	blood:	n/a	n/a
5	MAX	chr4:151500613-151501464	SK-N-SH	brain:	n/a	n/a
6	KAP1	chr4:151500009-151501466	HEK293	kidney:	n/a	n/a
7	POLR2A	chr4:151500797-151501245	ProgFib	skin:	n/a	n/a
8	CBX3	chr4:151500734-151501406	K562	blood:	n/a	n/a
9	RAD21	chr4:151500826-151501211	IMR90	lung:	n/a	n/a
10	MAX	chr4:151500718-151501487	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr4:151499806-151506108	H1-neurons	neurons:	n/a	n/a
12	MAX	chr4:151500746-151501409	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr4:151500726-151501472	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr4:151500900-151501338	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr4:151500693-151501461	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr4:151500866-151501450	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr4:151500335-151501671	H1-hESC	embryonic stem cell:	n/a	chr4:151500605-151500619
18	POLR2A	chr4:151500967-151501389	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:151499831-151502139	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr4:151501140-151501290	AG04449	skin:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
MAB21L2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10012087	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10015104	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10018886	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10022844	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10030673	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12649589	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13124512	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13134428	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13145262	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13151692	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1394496	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1504785	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1566867	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1857750	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1976494	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7690080	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs991529	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9993229	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9994153	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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	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
rs10006803	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

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	chr4:151477200-151502400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:151479600-151501800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:151486600-151503200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:151487000-151502400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:151487000-151503200	Weak transcription	Primary B cells from cord blood	blood
9	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:151490800-151503800	Weak transcription	HMEC	breast
11	chr4:151491600-151501400	Weak transcription	Primary T cells from cord blood	blood
12	chr4:151495200-151504000	Weak transcription	NHEK	skin
13	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:151498600-151503400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:151499000-151503600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:151499000-151513000	Active TSS	Colon Smooth Muscle	Colon
17	chr4:151499000-151513200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:151499200-151504000	Active TSS	Rectal Smooth Muscle	rectum
19	chr4:151499800-151501600	Active TSS	Duodenum Mucosa	Duodenum
20	chr4:151499800-151502000	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:151499800-151506000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:151500000-151501800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr4:151500000-151503600	Active TSS	Colonic Mucosa	Colon
24	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:151500200-151501400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:151500200-151501400	Flanking Active TSS	Liver	Liver
27	chr4:151500200-151501600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:151500400-151501400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr4:151500400-151501400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:151500400-151501400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:151500400-151501400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:151500400-151501400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:151500400-151501400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:151500400-151501400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr4:151500400-151501400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr4:151500400-151501400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:151500400-151501400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr4:151500400-151501400	Active TSS	HSMM	muscle
39	chr4:151500400-151501400	Active TSS	NHDF-Ad	bronchial
40	chr4:151500400-151501600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr4:151500400-151501600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr4:151500400-151501600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:151500400-151501600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr4:151500400-151501800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:151500400-151501800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr4:151500400-151501800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:151500400-151501800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:151500600-151501400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:151500600-151501400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:151500600-151501400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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