Variant report

Variant	rs12101178
Chromosome Location	chr14:105794556-105794557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105778878..105784143-chr14:105784229..105795178,22	MCF-7	breast:
2	chr14:105767065..105769583-chr14:105794063..105797699,3	MCF-7	breast:
3	chr14:105767465..105769266-chr14:105792852..105795010,2	MCF-7	breast:
4	chr14:105766253..105767836-chr14:105793783..105795495,2	K562	blood:
5	chr14:105787616..105789525-chr14:105792023..105794890,2	MCF-7	breast:
6	chr14:105794390..105796744-chr14:105813541..105815456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs10132438	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10135362	1.00[ASN][1000 genomes]
rs10141048	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10141334	1.00[JPT][hapmap]
rs10142682	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10147378	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10147674	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10148455	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11846567	1.00[JPT][hapmap]
rs11847128	1.00[JPT][hapmap]
rs11847153	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847295	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849421	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28378394	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs28589825	0.83[AMR][1000 genomes]
rs4074004	1.00[JPT][hapmap]
rs4076933	1.00[JPT][hapmap]
rs4983411	1.00[JPT][hapmap]
rs57000673	1.00[ASN][1000 genomes]
rs57229884	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	1.00[ASN][1000 genomes]
rs60545468	1.00[ASN][1000 genomes]
rs60719574	0.83[AMR][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7146660	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs7161158	1.00[JPT][hapmap]
rs73357391	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73359013	0.83[AMR][1000 genomes]
rs73359015	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359035	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359049	1.00[ASN][1000 genomes]
rs73359058	0.83[AMR][1000 genomes]
rs73359059	0.83[AMR][1000 genomes]
rs73359061	0.83[AMR][1000 genomes]
rs73359066	0.83[AMR][1000 genomes]
rs73359072	0.83[AMR][1000 genomes]
rs8004328	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs8008801	1.00[JPT][hapmap]
rs8010649	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8010888	1.00[JPT][hapmap]
rs8016693	1.00[JPT][hapmap]
rs8021520	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8021663	0.83[AMR][1000 genomes]
rs9671295	1.00[JPT][hapmap]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105782200-105794800	Weak transcription	Small Intestine	intestine
2	chr14:105782600-105800000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:105783000-105796000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:105783000-105796600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:105783400-105795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:105783600-105794800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:105783600-105795600	Weak transcription	Primary T cells from cord blood	blood
9	chr14:105783600-105795800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:105783600-105795800	Weak transcription	Thymus	Thymus
11	chr14:105783600-105796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:105783600-105796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:105783600-105796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:105783600-105799800	Weak transcription	Stomach Mucosa	stomach
15	chr14:105783600-105802800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:105784000-105796800	Weak transcription	NHEK	skin
17	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:105784200-105795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:105784200-105802400	Weak transcription	Dnd41	blood
20	chr14:105784400-105794600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:105784400-105796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:105784400-105796400	Weak transcription	HMEC	breast
23	chr14:105784400-105796800	Weak transcription	Aorta	Aorta
24	chr14:105784400-105796800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:105784400-105799400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:105784600-105795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:105784600-105797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:105784800-105795000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:105789200-105795000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr14:105789200-105795000	Genic enhancers	Spleen	Spleen
31	chr14:105789200-105795400	Enhancers	Fetal Heart	heart
32	chr14:105789200-105796400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:105789200-105797000	Enhancers	Psoas Muscle	Psoas
34	chr14:105789200-105797200	Enhancers	Right Ventricle	heart
35	chr14:105789200-105797400	Enhancers	Left Ventricle	heart
36	chr14:105789200-105805600	Enhancers	Brain Anterior Caudate	brain
37	chr14:105789400-105797400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105789600-105794800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:105789600-105795800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:105789600-105797200	Enhancers	Right Atrium	heart
41	chr14:105789800-105796600	Weak transcription	Fetal Thymus	thymus
42	chr14:105790000-105796600	Weak transcription	K562	blood
43	chr14:105790000-105797200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105790000-105797400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:105790000-105802200	Enhancers	Brain Hippocampus Middle	brain
46	chr14:105790200-105795400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:105790200-105805400	Enhancers	Brain Substantia Nigra	brain
48	chr14:105790400-105796800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:105790600-105795000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:105790600-105796800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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