Variant report

Variant	rs3742510
Chromosome Location	chr14:24783681-24783682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24783541-24783696	K562	blood:	n/a	n/a
2	POLR2A	chr14:24783084-24787822	K562	blood:	n/a	n/a
3	MAX	chr14:24783670-24786314	HepG2	liver:	n/a	chr14:24783975-24783984 chr14:24784464-24784474
4	POLR2A	chr14:24782915-24785629	HepG2	liver:	n/a	n/a
5	SPI1	chr14:24783039-24784281	HL-60	blood:	n/a	chr14:24784078-24784091 chr14:24783417-24783426 chr14:24783414-24783427 chr14:24784081-24784088 chr14:24783415-24783428 chr14:24783223-24783236
6	POLR2A	chr14:24783627-24784179	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:24783024-24785575	SK-N-MC	brain:	n/a	n/a
8	GATA2	chr14:24783245-24783830	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr14:24781910-24785823	HepG2	liver:	n/a	n/a

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	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
6	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:
7	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:

Variant related genes	Relation type
CIDEB	TF binding region
LTB4R	TF binding region
ENSG00000213906	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092330	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];0.80[YRI][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[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	1.00[CHB][hapmap];1.00[JPT][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[JPT][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[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144493	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]
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];0.88[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]
rs3742511	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	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]
rs4247001	0.92[CHB][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];0.88[JPT][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];0.80[YRI][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];0.80[YRI][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:91 , 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	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:24777800-24783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:24778600-24785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr14:24779000-24784000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:24779200-24785000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:24779600-24785400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:24780600-24784000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:24780800-24783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:24780800-24784200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:24780800-24784200	Weak transcription	Psoas Muscle	Psoas
15	chr14:24780800-24784800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:24781000-24785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:24781000-24785200	Enhancers	Spleen	Spleen
18	chr14:24781000-24785400	Weak transcription	Ovary	ovary
19	chr14:24781200-24784000	Enhancers	Brain Anterior Caudate	brain
20	chr14:24781200-24784000	Enhancers	Fetal Thymus	thymus
21	chr14:24781200-24784200	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:24781200-24784200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:24781200-24785200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:24781200-24785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:24781200-24787200	Enhancers	HUVEC	blood vessel
26	chr14:24781400-24783800	Enhancers	Fetal Muscle Leg	muscle
27	chr14:24781400-24784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:24781400-24784400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:24781400-24785000	Weak transcription	Pancreas	Pancrea
30	chr14:24781400-24785200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr14:24781400-24786200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:24781400-24786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:24781400-24786800	Enhancers	Lung	lung
34	chr14:24781600-24784800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:24781600-24784800	Enhancers	Adipose Nuclei	Adipose
36	chr14:24781600-24785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:24781600-24786000	Weak transcription	NHDF-Ad	bronchial
38	chr14:24781800-24784000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:24781800-24784400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:24781800-24785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:24781800-24787600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:24782000-24784200	Enhancers	K562	blood
43	chr14:24782000-24785000	Enhancers	Placenta	Placenta
44	chr14:24782000-24785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:24782200-24785000	Weak transcription	Right Atrium	heart
46	chr14:24782200-24785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:24782400-24784000	Weak transcription	Fetal Stomach	stomach
48	chr14:24782400-24784600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr14:24782400-24784800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:24782400-24785000	Enhancers	Rectal Mucosa Donor 29	rectum

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