Variant report

Variant	rs2281472
Chromosome Location	chr14:24775846-24775847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr14:24775255-24775968	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24774513-24776209	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:24775065-24776047	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24775417-24776101	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:24775537-24775891	GM12892	blood:	n/a	n/a
6	HEY1	chr14:24774504-24775900	HepG2	liver:	n/a	n/a
7	MBD4	chr14:24775819-24778159	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:24774441-24776080	HepG2	liver:	n/a	n/a
9	CTCF	chr14:24775780-24775930	GM12866	blood:	n/a	n/a
10	POLR2A	chr14:24775750-24776060	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:24773216-24777955	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:24775777-24775853	K562	blood:	n/a	n/a
13	MBD4	chr14:24775751-24778062	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24775299..24777826-chr14:24904340..24907258,3	MCF-7	breast:
2	chr14:24610521..24612373-chr14:24774882..24776542,2	K562	blood:
3	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
4	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
5	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272658	TF binding region
LTB4R	TF binding region
LTB4R2	TF binding region
CIDEB	TF binding region
ENSG00000157379	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10138762	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs10144194	0.89[ASN][1000 genomes]
rs1053648	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1053649	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11158632	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs11158634	0.87[EUR][1000 genomes]
rs11158635	0.87[EUR][1000 genomes]
rs1131941	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs12587807	0.87[ASN][1000 genomes]
rs12886362	0.82[EUR][1000 genomes]
rs12891891	0.89[ASN][1000 genomes]
rs12896458	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1950505	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2144492	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2144493	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2144494	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2180197	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2224122	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2295303	0.90[ASN][1000 genomes]
rs2516564	0.87[CEU][hapmap];0.80[MEX][hapmap];0.87[EUR][1000 genomes]
rs2748543	0.87[EUR][1000 genomes]
rs3181382	0.90[ASN][1000 genomes]
rs3181384	0.93[CEU][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs3742510	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs3742511	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs4247000	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4247001	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4280164	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4366641	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4374085	0.93[CEU][hapmap];0.80[MEX][hapmap];0.87[EUR][1000 genomes]
rs4981503	0.87[EUR][1000 genomes]
rs4981504	0.80[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs4982895	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573678	0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs941506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2281472	RAB11FIP1	trans	parietal	SCAN
rs2281472	ANG	cis	parietal	SCAN
rs2281472	LTB4R	cis	lung	GTEx
rs2281472	MYH6	cis	cerebellum	SCAN
rs2281472	DHRS1	cis	cerebellum	SCAN
rs2281472	NGDN	cis	parietal	SCAN
rs2281472	LRRC16B	cis	parietal	SCAN
rs2281472	TGM1	cis	cerebellum	SCAN
rs2281472	NDRG2	cis	parietal	SCAN
rs2281472	DHRS1	cis	parietal	SCAN
rs2281472	LTB4R	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770200-24777000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:24770200-24778600	Strong transcription	Fetal Stomach	stomach
3	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
4	chr14:24770400-24777000	Strong transcription	Brain Cingulate Gyrus	brain
5	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
6	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24770600-24776200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:24770600-24776400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:24770600-24776400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:24770600-24776400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:24770600-24776400	Strong transcription	Fetal Thymus	thymus
12	chr14:24770600-24776600	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr14:24770600-24776600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:24770600-24776600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:24770600-24776800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:24770600-24776800	Strong transcription	Brain Germinal Matrix	brain
17	chr14:24770600-24777000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24770600-24777000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:24770600-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:24770600-24777000	Strong transcription	Ovary	ovary
21	chr14:24770600-24777000	Strong transcription	HMEC	breast
22	chr14:24770600-24777200	Strong transcription	Brain Hippocampus Middle	brain
23	chr14:24770600-24777200	Strong transcription	Fetal Muscle Leg	muscle
24	chr14:24770600-24777400	Strong transcription	Colon Smooth Muscle	Colon
25	chr14:24770600-24778000	Strong transcription	Thymus	Thymus
26	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:24770800-24776000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:24770800-24776000	Strong transcription	HSMM	muscle
30	chr14:24770800-24776000	Strong transcription	NH-A	brain
31	chr14:24770800-24776200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:24770800-24776400	Strong transcription	Primary B cells from cord blood	blood
33	chr14:24770800-24776400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr14:24770800-24776600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:24770800-24776600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:24770800-24776600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:24770800-24776600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:24770800-24776600	Strong transcription	Brain Anterior Caudate	brain
39	chr14:24770800-24776600	Strong transcription	Left Ventricle	heart
40	chr14:24770800-24776800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:24770800-24776800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:24770800-24776800	Strong transcription	Brain Angular Gyrus	brain
43	chr14:24770800-24776800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr14:24770800-24776800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:24770800-24777000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:24770800-24777000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:24770800-24777000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:24770800-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:24770800-24777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:24770800-24777000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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