Variant report

Variant	rs3742511
Chromosome Location	chr14:24784911-24784912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:24784902-24785740	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24784629-24786256	K562	blood:	n/a	n/a
3	MYBL2	chr14:24784620-24785787	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:24784890-24785561	Hela-S3	cervix:	n/a	n/a
5	MYC	chr14:24784858-24784912	HepG2	liver:	n/a	n/a
6	EP300	chr14:24784833-24784984	HepG2	liver:	n/a	n/a
7	RCOR1	chr14:24784672-24784985	HepG2	liver:	n/a	n/a
8	HDAC2	chr14:24784410-24785830	HepG2	liver:	n/a	n/a
9	ELF1	chr14:24784178-24785717	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:24783084-24787822	K562	blood:	n/a	n/a
11	POLR2A	chr14:24784613-24784963	GM12891	blood:	n/a	n/a
12	NFIC	chr14:24784077-24785639	HepG2	liver:	n/a	n/a
13	BHLHE40	chr14:24784770-24785588	HepG2	liver:	n/a	n/a
14	MBD4	chr14:24784289-24785769	HepG2	liver:	n/a	n/a
15	RCOR1	chr14:24784888-24785713	K562	blood:	n/a	n/a
16	POLR2A	chr14:24783908-24785153	A549	lung:	n/a	n/a
17	MAX	chr14:24783670-24786314	HepG2	liver:	n/a	chr14:24783975-24783984 chr14:24784464-24784474
18	MYBL2	chr14:24784072-24785898	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:24782915-24785629	HepG2	liver:	n/a	n/a
20	ELF1	chr14:24784891-24785624	K562	blood:	n/a	n/a
21	POLR2A	chr14:24784369-24785405	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24784901-24786259	K562	blood:	n/a	n/a
23	POLR2A	chr14:24784620-24785501	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:24784739-24785779	MCF-7	breast:	n/a	n/a
25	RFX5	chr14:24784839-24785375	HepG2	liver:	n/a	chr14:24784953-24784968
26	POLR2A	chr14:24783024-24785575	SK-N-MC	brain:	n/a	n/a
27	REST	chr14:24784549-24785803	HepG2	liver:	n/a	chr14:24784736-24784749 chr14:24784736-24784756
28	MXI1	chr14:24784871-24785710	HepG2	liver:	n/a	n/a
29	NFIC	chr14:24784296-24785628	HepG2	liver:	n/a	n/a
30	MAFF	chr14:24784875-24785320	HepG2	liver:	n/a	chr14:24785146-24785164
31	POLR2A	chr14:24784878-24784932	HUVEC	blood vessel:	n/a	n/a
32	MBD4	chr14:24784003-24785808	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:24784544-24786242	HL-60	blood:	n/a	n/a
34	POLR2A	chr14:24781910-24785823	HepG2	liver:	n/a	n/a
35	YY1	chr14:24784583-24785915	HepG2	liver:	n/a	n/a
36	MAFK	chr14:24784840-24785652	HepG2	liver:	n/a	chr14:24785147-24785162
37	BRCA1	chr14:24784878-24784996	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24783396..24785005-chr14:24908424..24911111,2	K562	blood:
2	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
3	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
4	chr14:24605250..24607686-chr14:24782564..24785003,2	K562	blood:
5	chr14:24781177..24783367-chr14:24784569..24786396,2	K562	blood:
6	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
7	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:
8	chr14:24784144..24786069-chr14:24899565..24901293,2	K562	blood:
9	chr14:24784156..24786411-chr14:24902043..24903972,2	MCF-7	breast:

No data

Variant related genes	Relation type
CIDEB	TF binding region
ENSG00000100445	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000196497	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10138762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144194	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146996	0.82[JPT][hapmap]
rs1053648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053649	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587807	0.95[ASN][1000 genomes]
rs12891891	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12896458	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1950505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144493	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2180197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281472	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2295303	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332232	0.80[ASN][1000 genomes]
rs3181382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4247000	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4247001	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573678	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs941506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:24778600-24785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:24779200-24785000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr14:24779600-24785400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:24781000-24785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:24781000-24785200	Enhancers	Spleen	Spleen
9	chr14:24781000-24785400	Weak transcription	Ovary	ovary
10	chr14:24781200-24785200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:24781200-24785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:24781200-24787200	Enhancers	HUVEC	blood vessel
13	chr14:24781400-24785000	Weak transcription	Pancreas	Pancrea
14	chr14:24781400-24785200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:24781400-24786200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:24781400-24786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:24781400-24786800	Enhancers	Lung	lung
18	chr14:24781600-24785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24781600-24786000	Weak transcription	NHDF-Ad	bronchial
20	chr14:24781800-24785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:24781800-24787600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:24782000-24785000	Enhancers	Placenta	Placenta
23	chr14:24782000-24785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:24782200-24785000	Weak transcription	Right Atrium	heart
25	chr14:24782200-24785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:24782400-24785000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr14:24782400-24786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:24782600-24786400	Weak transcription	HSMMtube	muscle
29	chr14:24782800-24785000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:24782800-24785400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr14:24782800-24786000	Weak transcription	Hela-S3	cervix
32	chr14:24783000-24785800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:24783200-24785000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:24783200-24785000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:24783200-24785000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr14:24783200-24786200	Enhancers	Right Ventricle	heart
37	chr14:24783200-24786400	Enhancers	Esophagus	oesophagus
38	chr14:24783200-24788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:24783400-24785000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr14:24783400-24785000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr14:24783600-24785000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:24783600-24785200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:24783800-24786200	Enhancers	Left Ventricle	heart
44	chr14:24783800-24786400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr14:24783800-24786400	Weak transcription	A549	lung
46	chr14:24784000-24785000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:24784000-24785000	Weak transcription	Brain Anterior Caudate	brain
48	chr14:24784000-24785200	Weak transcription	Gastric	stomach
49	chr14:24784000-24786000	Weak transcription	Small Intestine	intestine
50	chr14:24784000-24786200	Enhancers	Sigmoid Colon	Sigmoid Colon

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