Variant report

Variant	rs4696537
Chromosome Location	chr4:151503257-151503258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:151502161-151505676	IMR90	lung:	n/a	n/a
2	MAX	chr4:151502714-151503600	SK-N-SH	brain:	n/a	n/a
3	MAX	chr4:151502712-151503321	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:151502343-151506138	H1-neurons	neurons:	n/a	n/a
5	MAX	chr4:151502856-151503347	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:151499806-151506108	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr4:151503240-151503390	HA-sp	spinal cord:	n/a	n/a
8	MXI1	chr4:151502292-151505889	SK-N-SH	brain:	n/a	n/a
9	MAX	chr4:151502829-151503316	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr4:151502749-151505409	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:151503140-151503290	SK-N-SH_RA	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:151503227-151503277	HUVEC	blood vessel:	n/a
2	chr4:151503227-151503277	HCF	heart:	n/a
3	chr4:151503227-151503277	BE2_C	brain:	n/a
4	chr4:151503227-151503277	AG09309	skin:	n/a
5	chr4:151503227-151503277	MCF-7	breast:	n/a
6	chr4:151503227-151503277	Caco-2	colon:	n/a
7	chr4:151503227-151503277	HepG2	liver:	n/a
8	chr4:151503227-151503277	NHDF-neo	bronchial:	n/a
9	chr4:151503227-151503277	HAEpiC	amniotic membrane:	n/a
10	chr4:151503227-151503277	MCF10A-Er-Src	breast:	n/a
11	chr4:151503227-151503277	HEEpiC	esophagus:	n/a
12	chr4:151503227-151503277	SK-N-SH	brain:	n/a
13	chr4:151503227-151503277	Jurkat	blood:	n/a
14	chr4:151503227-151503277	ECC-1	luminal epithelium:	n/a
15	chr4:151503227-151503277	BJ	skin:	n/a
16	chr4:151503227-151503277	CMK	blood:	n/a
17	chr4:151503227-151503277	AoSMC	blood vessel:	n/a
18	chr4:151503227-151503277	HRCEpiC	kidney:	n/a
19	chr4:151503227-151503277	AG09319	gingival:	n/a
20	chr4:151503227-151503277	AG10803	skin:	n/a
21	chr4:151503227-151503277	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:151503227-151503277	HRE	kidney:	n/a
23	chr4:151503227-151503277	HIPEpiC	eye:	n/a
24	chr4:151503227-151503277	HCT-116	colon:	n/a
25	chr4:151503227-151503277	T-47D	breast:	n/a
26	chr4:151503227-151503277	K562	blood:	n/a
27	chr4:151503227-151503277	GM12891	blood:	n/a
28	chr4:151503227-151503277	Hepatocyte	liver:	n/a
29	chr4:151503227-151503277	IMR90	lung:	fetal
30	chr4:151503227-151503277	HNPCEpiC	eye:	n/a
31	chr4:151503227-151503277	A549	lung:	n/a
32	chr4:151503227-151503277	GM06990	blood:	n/a
33	chr4:151503227-151503277	NT2-D1	testis:	n/a
34	chr4:151503227-151503277	SKMC	muscle:	n/a
35	chr4:151503227-151503277	NH-A	brain:	n/a
36	chr4:151503227-151503277	Hela-S3	cervix:	n/a
37	chr4:151503227-151503277	NHBE	bronchial:	n/a
38	chr4:151503227-151503277	SAEC	small airway:	n/a
39	chr4:151503227-151503277	GM12892	blood:	n/a
40	chr4:151503227-151503277	ovcar-3	ovarian:	n/a
41	chr4:151503227-151503277	PFSK-1	brain:	n/a
42	chr4:151503227-151503277	HCM	heart:	n/a
43	chr4:151503227-151503277	PrEC	prostate:	n/a
44	chr4:151503227-151503277	HCPEpiC	choroid plexus:	n/a
45	chr4:151503227-151503277	PANC-1	pancreas:	n/a
46	chr4:151503227-151503277	SK-N-MC	brain:	n/a
47	chr4:151503227-151503277	LNCaP	prostate:	n/a
48	chr4:151503227-151503277	GM19239	blood:	n/a
49	chr4:151503227-151503277	GM12878	blood:	n/a
50	chr4:151503227-151503277	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
LRBA	TF binding region
LRBA	CpG island

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10000491	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10000655	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10025007	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10025414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10155442	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857247	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11099766	0.82[EUR][1000 genomes]
rs11099773	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11099774	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931175	0.92[EUR][1000 genomes]
rs12108435	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12499862	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12508892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12642528	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13103943	0.84[EUR][1000 genomes]
rs13111441	0.87[EUR][1000 genomes]
rs13144332	0.87[EUR][1000 genomes]
rs1504781	0.87[EUR][1000 genomes]
rs1504784	0.97[EUR][1000 genomes]
rs1532822	0.92[EUR][1000 genomes]
rs17027030	1.00[CEU][hapmap]
rs17027034	1.00[CEU][hapmap]
rs1966052	1.00[CEU][hapmap]
rs28451271	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2884894	0.81[EUR][1000 genomes]
rs4235250	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269161	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4270570	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4289432	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4311291	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4327465	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4328896	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4330340	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4355367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358377	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4376124	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4396972	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401437	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4417951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4431210	1.00[CEU][hapmap]
rs4450905	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4476581	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4533751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4568218	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4604037	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4619872	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4619873	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4696186	0.92[EUR][1000 genomes]
rs4696214	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696220	1.00[CEU][hapmap]
rs4696629	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68016242	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818709	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6825990	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6826248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6832498	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6834928	1.00[CEU][hapmap]
rs6836017	1.00[CEU][hapmap]
rs6839548	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846154	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6851587	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6852493	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6852703	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6855667	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6858267	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7667511	1.00[CEU][hapmap]
rs7671045	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7674989	0.87[EUR][1000 genomes]
rs7686220	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7689850	1.00[CEU][hapmap]
rs7692615	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs905767	0.87[EUR][1000 genomes]
rs971640	1.00[CEU][hapmap]
rs9790393	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9995388	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9995612	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9997018	0.95[EUR][1000 genomes];0.94[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

No data

Chromatin state (count:107 , 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	chr4:151486600-151510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:151490800-151503800	Weak transcription	HMEC	breast
5	chr4:151495200-151504000	Weak transcription	NHEK	skin
6	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:151498600-151503400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:151499000-151503600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:151499000-151513000	Active TSS	Colon Smooth Muscle	Colon
10	chr4:151499000-151513200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr4:151499200-151504000	Active TSS	Rectal Smooth Muscle	rectum
12	chr4:151499800-151506000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:151500000-151503600	Active TSS	Colonic Mucosa	Colon
14	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:151500800-151505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:151500800-151505600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr4:151500800-151511800	Active TSS	Osteobl	bone
18	chr4:151500800-151520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:151501000-151505200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:151501200-151503400	Weak transcription	Esophagus	oesophagus
21	chr4:151501200-151503800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:151501200-151504000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:151501200-151504000	Weak transcription	Gastric	stomach
24	chr4:151501200-151504000	Weak transcription	Pancreas	Pancrea
25	chr4:151501200-151506400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:151501200-151559800	Weak transcription	Ovary	ovary
27	chr4:151501400-151503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:151501400-151503600	Weak transcription	Right Atrium	heart
29	chr4:151501400-151503800	Weak transcription	Aorta	Aorta
30	chr4:151501400-151503800	Weak transcription	HUVEC	blood vessel
31	chr4:151501400-151504000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:151501400-151504000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:151501400-151504000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:151501400-151504000	Weak transcription	Psoas Muscle	Psoas
35	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:151501400-151504000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:151501400-151504000	Weak transcription	Spleen	Spleen
38	chr4:151501400-151504000	Weak transcription	HSMM	muscle
39	chr4:151501400-151504200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:151501400-151504200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:151501400-151504200	Weak transcription	Lung	lung
42	chr4:151501400-151504200	Weak transcription	NHLF	lung
43	chr4:151501400-151506000	Strong transcription	Primary T cells from cord blood	blood
44	chr4:151501400-151514800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:151501600-151503400	Active TSS	Fetal Intestine Small	intestine
46	chr4:151501600-151503400	Weak transcription	Thymus	Thymus
47	chr4:151501600-151503600	Weak transcription	Adipose Nuclei	Adipose
48	chr4:151501600-151503800	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:151501600-151503800	Weak transcription	Small Intestine	intestine
50	chr4:151501600-151504000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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