Variant report

Variant	rs28378394
Chromosome Location	chr14:105786820-105786821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105766174..105769085-chr14:105786529..105791325,5	MCF-7	breast:
2	chr14:105778878..105784143-chr14:105784229..105795178,22	MCF-7	breast:
3	chr14:105785639..105787246-chr14:105789793..105792737,2	MCF-7	breast:
4	chr14:105780755..105782993-chr14:105786109..105788994,3	K562	blood:
5	chr14:105780526..105783453-chr14:105786611..105790632,4	K562	blood:

Variant related genes	Relation type
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132353	0.87[AMR][1000 genomes]
rs10132438	1.00[ASN][1000 genomes]
rs10135362	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10141048	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10142682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143232	0.84[AFR][1000 genomes]
rs10147378	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10147674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10148455	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847153	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11849421	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12101178	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28569215	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57000673	1.00[ASN][1000 genomes]
rs57229884	1.00[ASN][1000 genomes]
rs58816330	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59143495	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60545468	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6576084	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7144362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73357391	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359022	0.92[AFR][1000 genomes]
rs73359031	0.83[AFR][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8004328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010649	1.00[ASN][1000 genomes]
rs8021520	1.00[ASN][1000 genomes]
rs9671782	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9671890	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
18	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105782200-105794800	Weak transcription	Small Intestine	intestine
2	chr14:105782600-105793000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:105782600-105800000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:105782800-105789000	Weak transcription	K562	blood
6	chr14:105782800-105790200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:105783000-105790000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:105783000-105796000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:105783000-105796600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:105783200-105789200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:105783400-105795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:105783600-105789000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:105783600-105789000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:105783600-105794400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:105783600-105794800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:105783600-105795600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:105783600-105795800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:105783600-105795800	Weak transcription	Thymus	Thymus
19	chr14:105783600-105796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:105783600-105796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:105783600-105796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:105783600-105799800	Weak transcription	Stomach Mucosa	stomach
23	chr14:105783600-105802800	Weak transcription	Fetal Intestine Large	intestine
24	chr14:105783800-105789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:105783800-105789200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:105784000-105788200	Weak transcription	Hela-S3	cervix
27	chr14:105784000-105789200	Weak transcription	Fetal Heart	heart
28	chr14:105784000-105796800	Weak transcription	NHEK	skin
29	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:105784200-105789000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:105784200-105789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:105784200-105789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:105784200-105789200	Weak transcription	Fetal Stomach	stomach
34	chr14:105784200-105789200	Weak transcription	Fetal Thymus	thymus
35	chr14:105784200-105789200	Weak transcription	Psoas Muscle	Psoas
36	chr14:105784200-105795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:105784200-105802400	Weak transcription	Dnd41	blood
38	chr14:105784400-105788800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:105784400-105789000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:105784400-105789000	Weak transcription	Brain Angular Gyrus	brain
41	chr14:105784400-105789000	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:105784400-105789000	Weak transcription	Brain Substantia Nigra	brain
43	chr14:105784400-105789000	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:105784400-105789000	Weak transcription	HSMMtube	muscle
45	chr14:105784400-105789000	Weak transcription	NH-A	brain
46	chr14:105784400-105789000	Weak transcription	Osteobl	bone
47	chr14:105784400-105789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:105784400-105789200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:105784400-105789200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:105784400-105789200	Weak transcription	Brain Cingulate Gyrus	brain

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