Variant report

Variant	rs2819454
Chromosome Location	chr14:105440784-105440785
allele	A/C
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	chr14:105440637-105440805	Hela-S3	cervix:	n/a	n/a
2	TBP	chr14:105438236-105440788	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:105440764-105440860	MCF10A-Er-Src	breast:	n/a	n/a
4	MAX	chr14:105438425-105440827	ECC-1	luminal epithelium:	n/a	chr14:105439616-105439625 chr14:105439430-105439445 chr14:105439432-105439442 chr14:105439432-105439441 chr14:105439039-105439048 chr14:105439612-105439621 chr14:105439084-105439095 chr14:105439430-105439443 chr14:105439085-105439094 chr14:105439084-105439095 chr14:105439948-105439958 chr14:105439431-105439441
5	MAX	chr14:105437892-105441008	A549	lung:	n/a	chr14:105439616-105439625 chr14:105439430-105439445 chr14:105439432-105439442 chr14:105439432-105439441 chr14:105439039-105439048 chr14:105439612-105439621 chr14:105439084-105439095 chr14:105439430-105439443 chr14:105439085-105439094 chr14:105438340-105438350 chr14:105439084-105439095 chr14:105439948-105439958 chr14:105439431-105439441
6	SMC3	chr14:105440633-105440801	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:105430375-105441189	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr14:105440680-105440830	GM12867	blood:	n/a	n/a
9	POLR2A	chr14:105431752-105441243	PANC-1	pancreas:	n/a	n/a
10	MAX	chr14:105438340-105440844	A549	lung:	n/a	chr14:105439616-105439625 chr14:105439430-105439445 chr14:105439432-105439442 chr14:105439432-105439441 chr14:105439039-105439048 chr14:105439612-105439621 chr14:105439084-105439095 chr14:105439430-105439443 chr14:105439085-105439094 chr14:105438340-105438350 chr14:105439084-105439095 chr14:105439948-105439958 chr14:105439431-105439441
11	POLR2A	chr14:105440382-105440817	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr14:105440469-105440872	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr14:105437690-105441037	A549	lung:	n/a	chr14:105438910-105438917 chr14:105438520-105438528 chr14:105439972-105439982
14	EP300	chr14:105438320-105440943	ECC-1	luminal epithelium:	n/a	chr14:105439357-105439373 chr14:105440435-105440449 chr14:105439842-105439851 chr14:105438684-105438694

No.	Distal block	Cell Line	Cell type
1	chr14:105438202..105442375-chr14:105515554..105517419,4	MCF-7	breast:
2	chr14:105261681..105264088-chr14:105440432..105444268,3	MCF-7	breast:
3	chr14:105433710..105436049-chr14:105439877..105441743,2	K562	blood:
4	chr14:105437131..105440834-chr14:105498624..105501222,7	MCF-7	breast:
5	chr14:105438670..105441192-chr14:105479000..105481836,2	MCF-7	breast:
6	chr14:105440515..105441511-chr14:105511823..105512480,2	MCF-7	breast:
7	chr14:105433976..105435749-chr14:105440504..105442426,2	K562	blood:
8	chr14:105439148..105443551-chr14:105514857..105517898,4	MCF-7	breast:
9	chr14:105438538..105441421-chr14:105558116..105560287,2	MCF-7	breast:
10	chr14:105440744..105442653-chr14:105551168..105553091,2	MCF-7	breast:
11	chr14:105398012..105401784-chr14:105439650..105442566,4	MCF-7	breast:
12	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
13	chr14:105439903..105442825-chr14:105553149..105554969,2	MCF-7	breast:

Variant related genes	Relation type
AHNAK2	TF binding region
ENSG00000170779	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000257556	Chromatin interaction
ENSG00000166428	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10133168	0.82[JPT][hapmap]
rs2582496	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2582497	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55862960	0.82[EUR][1000 genomes]
rs733130	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs736066	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9805957	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	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
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	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
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS 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	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105434400-105443800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:105434600-105444000	Weak transcription	Aorta	Aorta
4	chr14:105435200-105441200	Enhancers	Fetal Stomach	stomach
5	chr14:105435800-105442600	Weak transcription	K562	blood
6	chr14:105436800-105441000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:105436800-105441200	Enhancers	Gastric	stomach
8	chr14:105436800-105441400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:105436800-105441600	Enhancers	Fetal Muscle Leg	muscle
10	chr14:105436800-105443400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:105436800-105443800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:105437400-105441200	Enhancers	HUVEC	blood vessel
13	chr14:105437400-105441400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:105437400-105444000	Enhancers	Pancreas	Pancrea
15	chr14:105438000-105440800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105438000-105441200	Flanking Active TSS	Hela-S3	cervix
17	chr14:105438000-105441400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105438000-105446800	Enhancers	Lung	lung
19	chr14:105438200-105440800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:105438200-105440800	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr14:105438200-105441000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:105438200-105441400	Flanking Active TSS	A549	lung
23	chr14:105438600-105440800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:105438600-105441000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:105438800-105440800	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr14:105438800-105441000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:105438800-105442000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:105438800-105443000	Enhancers	Ovary	ovary
29	chr14:105439000-105440800	Enhancers	Right Atrium	heart
30	chr14:105439000-105441000	Enhancers	Brain Anterior Caudate	brain
31	chr14:105439200-105441400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:105439200-105443600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:105439600-105441000	Enhancers	Brain Germinal Matrix	brain
34	chr14:105439600-105441000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr14:105439600-105442200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:105439600-105443400	Enhancers	Esophagus	oesophagus
37	chr14:105439600-105445400	Enhancers	Spleen	Spleen
38	chr14:105440000-105441000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:105440000-105441000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:105440000-105441200	Enhancers	HSMMtube	muscle
41	chr14:105440000-105441800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:105440000-105442200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:105440000-105442600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:105440000-105443000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:105440000-105443000	Weak transcription	Fetal Brain Male	brain
46	chr14:105440000-105443600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr14:105440200-105441000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr14:105440200-105441000	Enhancers	Fetal Intestine Small	intestine
49	chr14:105440200-105441200	Enhancers	NH-A	brain
50	chr14:105440200-105441400	Enhancers	Muscle Satellite Cultured Cells	--

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