Variant report

Variant	rs10130973
Chromosome Location	chr14:104267762-104267763
allele	C/T
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	MYC	chr14:104267719-104268287	MCF10A-Er-Src	breast:	n/a	chr14:104267964-104267973
2	POLR2A	chr14:104267663-104268288	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr14:104267619-104268214	U87	brain:	n/a	n/a
4	CEBPB	chr14:104267736-104268039	HepG2	liver:	n/a	chr14:104267961-104267972 chr14:104267961-104267974
5	POLR2A	chr14:104267563-104268191	SK-N-MC	brain:	n/a	n/a
6	MAX	chr14:104267760-104268100	H1-hESC	embryonic stem cell:	n/a	chr14:104267964-104267973
7	JUN	chr14:104267671-104268303	K562	blood:	n/a	chr14:104267962-104267975
8	MAX	chr14:104267729-104268095	H1-hESC	embryonic stem cell:	n/a	chr14:104267964-104267973
9	FOS	chr14:104267740-104268277	MCF10A-Er-Src	breast:	n/a	n/a
10	KAP1	chr14:104267724-104268420	U2OS	brain:	n/a	n/a
11	MAX	chr14:104267721-104268081	K562	blood:	n/a	chr14:104267964-104267973
12	FOS	chr14:104267757-104268267	MCF10A-Er-Src	breast:	n/a	n/a
13	ZNF263	chr14:104267761-104268142	HEK293-T-REx	kidney:	n/a	n/a
14	MYC	chr14:104267736-104268105	NB4	blood:	n/a	chr14:104267964-104267973
15	MYC	chr14:104267734-104268148	MCF10A-Er-Src	breast:	n/a	chr14:104267964-104267973
16	KAP1	chr14:104267697-104268216	HEK293	kidney:	n/a	n/a
17	E2F6	chr14:104267614-104268219	H1-hESC	embryonic stem cell:	n/a	chr14:104267845-104267854
18	MYC	chr14:104267744-104268098	K562	blood:	n/a	chr14:104267964-104267973
19	MAX	chr14:104267750-104268102	NB4	blood:	n/a	chr14:104267964-104267973
20	CEBPB	chr14:104267753-104268117	K562	blood:	n/a	chr14:104267961-104267972 chr14:104267961-104267974

Variant related genes	Relation type
ENSG00000202275	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10135720	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140452	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10146218	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11160764	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12436676	0.82[AMR][1000 genomes]
rs2295144	0.85[AMR][1000 genomes]
rs2368561	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28616007	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28794002	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61427488	0.94[AMR][1000 genomes]
rs61995808	0.84[AMR][1000 genomes]
rs61995809	0.82[AMR][1000 genomes]
rs61995810	0.82[AMR][1000 genomes]
rs7140323	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7157887	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
2	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
3	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:104216200-104267800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
6	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
7	chr14:104218800-104270200	Weak transcription	Ovary	ovary
8	chr14:104228800-104270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:104229200-104267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
11	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:104238800-104270400	Weak transcription	HUVEC	blood vessel
13	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:104240800-104268000	Weak transcription	Fetal Heart	heart
15	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:104245200-104271400	Weak transcription	Right Ventricle	heart
17	chr14:104250200-104267800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:104250400-104267800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:104257400-104268400	Weak transcription	Placenta	Placenta
20	chr14:104257600-104272000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:104257800-104284000	Weak transcription	Gastric	stomach
22	chr14:104258800-104274800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:104260600-104267800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:104261800-104267800	Weak transcription	Lung	lung
25	chr14:104261800-104268800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:104262600-104269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:104262600-104277200	Weak transcription	Pancreas	Pancrea
28	chr14:104263000-104277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:104263200-104281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:104263600-104274600	Weak transcription	Liver	Liver
31	chr14:104263800-104275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:104264000-104267800	Weak transcription	Brain Anterior Caudate	brain
33	chr14:104266800-104267800	Weak transcription	Right Atrium	heart
34	chr14:104267200-104269000	Enhancers	Left Ventricle	heart
35	chr14:104267200-104271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:104267400-104268000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:104267400-104268000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:104267400-104268000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:104267400-104268200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:104267400-104268400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:104267400-104268400	Enhancers	NHEK	skin
42	chr14:104267600-104267800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:104267600-104267800	Enhancers	Fetal Intestine Small	intestine
44	chr14:104267600-104268000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:104267600-104268000	Enhancers	Fetal Intestine Large	intestine
46	chr14:104267600-104268200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:104267600-104268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:104267600-104268600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:104267600-104268600	Enhancers	Adipose Nuclei	Adipose
50	chr14:104267600-104268600	Enhancers	Osteobl	bone

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