Variant report

Variant	rs4983577
Chromosome Location	chr14:105554626-105554627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105439903..105442825-chr14:105553149..105554969,2	MCF-7	breast:
2	chr14:105437250..105440570-chr14:105553722..105556644,3	MCF-7	breast:
3	chr14:105444537..105448423-chr14:105550882..105555382,4	MCF-7	breast:
4	chr14:105552235..105554666-chr14:105628025..105629965,2	MCF-7	breast:
5	chr14:105541634..105546414-chr14:105550039..105556215,6	MCF-7	breast:
6	chr14:105553187..105555561-chr14:105589136..105591325,2	MCF-7	breast:
7	chr14:105551472..105556224-chr14:105557135..105561197,4	K562	blood:
8	chr14:105553496..105555474-chr14:105559584..105561401,3	K562	blood:
9	chr14:105538481..105541276-chr14:105553556..105555941,2	K562	blood:
10	chr14:105552947..105555057-chr14:105555509..105557119,2	K562	blood:
11	chr14:105441542..105446524-chr14:105551776..105555830,4	K562	blood:
12	chr14:105550667..105552367-chr14:105554467..105556280,2	K562	blood:
13	chr14:105330424..105332507-chr14:105554490..105556010,2	MCF-7	breast:
14	chr14:105487065..105489354-chr14:105552819..105555083,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257556	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000099814	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11160833	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12147075	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884077	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28450433	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34283552	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4983579	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4983583	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
18	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	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
22	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
23	nsv902428	chr14:105531945-105555396	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv3359357	chr14:105553957-105556755	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105551600-105559000	Enhancers	Placenta	Placenta
2	chr14:105553000-105554800	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr14:105553000-105555000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:105553000-105555000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:105553200-105554800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:105553400-105555000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:105553400-105555400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:105553400-105555600	Enhancers	Fetal Heart	heart
9	chr14:105553400-105555600	Flanking Active TSS	Hela-S3	cervix
10	chr14:105553600-105555000	Bivalent Enhancer	Liver	Liver
11	chr14:105553600-105555600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr14:105553600-105555800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:105553800-105555000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:105553800-105555000	Enhancers	Spleen	Spleen
15	chr14:105553800-105555200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr14:105553800-105555400	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr14:105553800-105555600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
18	chr14:105553800-105556000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr14:105554000-105554800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr14:105554000-105554800	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:105554000-105554800	Enhancers	Lung	lung
22	chr14:105554000-105555200	Enhancers	HSMMtube	muscle
23	chr14:105554000-105555400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr14:105554000-105555400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr14:105554000-105555600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr14:105554000-105555800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:105554000-105556200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:105554000-105556600	Weak transcription	Left Ventricle	heart
29	chr14:105554000-105557800	Enhancers	HMEC	breast
30	chr14:105554000-105559000	Enhancers	Gastric	stomach
31	chr14:105554200-105554800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr14:105554200-105554800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:105554200-105554800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:105554200-105554800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:105554200-105554800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:105554200-105555000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:105554200-105555000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr14:105554200-105555000	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr14:105554200-105555000	Enhancers	HUVEC	blood vessel
40	chr14:105554200-105555000	Flanking Active TSS	Osteobl	bone
41	chr14:105554200-105555200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:105554200-105555400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:105554200-105555400	Enhancers	Esophagus	oesophagus
44	chr14:105554200-105555600	Enhancers	Right Ventricle	heart
45	chr14:105554200-105559000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:105554200-105559000	Enhancers	Pancreas	Pancrea
47	chr14:105554400-105554800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:105554400-105554800	Enhancers	Primary B cells from cord blood	blood
49	chr14:105554400-105554800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:105554400-105554800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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