Variant report

Variant	rs10140292
Chromosome Location	chr14:104357974-104357975
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
2	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
3	chr14:104308464..104311195-chr14:104356027..104358587,2	MCF-7	breast:
4	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10131031	1.00[JPT][hapmap]
rs10137676	1.00[JPT][hapmap]
rs10140390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10145882	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12431625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12436665	1.00[JPT][hapmap]
rs12437404	1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs17101922	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs2003053	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2368996	1.00[JPT][hapmap]
rs28493894	0.84[AMR][1000 genomes]
rs28720127	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28736513	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34606901	0.84[AMR][1000 genomes]
rs4900603	1.00[JPT][hapmap]
rs4900606	1.00[JPT][hapmap]
rs4906381	0.82[AMR][1000 genomes]
rs4906384	0.84[AMR][1000 genomes]
rs4906386	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4906403	1.00[JPT][hapmap]
rs4906407	1.00[JPT][hapmap]
rs55920546	0.88[AMR][1000 genomes]
rs56817754	0.82[AMR][1000 genomes]
rs58701300	0.82[AMR][1000 genomes]
rs58887008	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60242182	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7149148	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7150795	1.00[JPT][hapmap]
rs73350570	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8009847	0.84[AMR][1000 genomes]
rs8020110	1.00[JPT][hapmap]
rs8022769	0.84[AMR][1000 genomes]
rs9324070	1.00[JPT][hapmap]
rs9671924	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv9174	chr14:104352172-104362943	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
5	chr14:104353200-104358400	Enhancers	Stomach Mucosa	stomach
6	chr14:104353400-104358000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:104353600-104362800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:104354600-104358800	Flanking Active TSS	HepG2	liver
9	chr14:104355000-104359000	Enhancers	Spleen	Spleen
10	chr14:104355600-104358200	Enhancers	Adipose Nuclei	Adipose
11	chr14:104355600-104360200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:104355800-104358000	Enhancers	Right Ventricle	heart
13	chr14:104355800-104358200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr14:104355800-104358400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:104355800-104362200	Enhancers	Liver	Liver
16	chr14:104356000-104358200	Enhancers	Fetal Muscle Leg	muscle
17	chr14:104356000-104362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:104356400-104358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:104356400-104362800	Weak transcription	NHEK	skin
20	chr14:104356800-104360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:104356800-104364000	Weak transcription	HMEC	breast
22	chr14:104357000-104358000	Enhancers	Gastric	stomach
23	chr14:104357200-104358000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr14:104357200-104360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:104357400-104360200	Weak transcription	Colonic Mucosa	Colon
26	chr14:104357400-104360200	Weak transcription	Placenta	Placenta
27	chr14:104357600-104358400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:104357600-104360600	Weak transcription	Lung	lung
29	chr14:104357600-104362800	Weak transcription	Small Intestine	intestine
30	chr14:104357800-104360000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:104357800-104360200	Weak transcription	Esophagus	oesophagus
32	chr14:104357800-104360200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:104357800-104360600	Weak transcription	Left Ventricle	heart
34	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach

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