Variant report

Variant	rs527762174
Chromosome Location	chr14:105332970-105332971
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
2	chr12:107349163..107350048-chr14:105332332..105333107,2	Hela-S3	cervix:
3	chr14:105219309..105221110-chr14:105331526..105333449,2	MCF-7	breast:
4	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
5	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
6	chr14:105332387..105333907-chr17:41398401..41400299,2	K562	blood:
7	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
8	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
9	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
10	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:
11	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:
12	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
13	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
14	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
15	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
16	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166428	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000260329	Chromatin interaction
ENSG00000151135	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000185100	Chromatin interaction
ENSG00000207568	Chromatin interaction
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	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
7	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	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
9	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	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
11	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
12	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
14	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
15	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers 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	38 gene(s)	inside rSNPs	diseases
18	nsv902417	chr14:105323300-105350355	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	esv1836173	chr14:105329195-105348552	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	esv3518455	chr14:105330607-105333005	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	esv3518456	chr14:105330607-105333005	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	esv3423552	chr14:105330732-105333280	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1833606	chr14:105331150-105348552	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
25	esv1850310	chr14:105331150-105348552	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv566115	chr14:105331202-105333539	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	nsv566123	chr14:105331370-105347488	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv566131	chr14:105331476-105340643	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv566132	chr14:105331476-105347488	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	nsv566134	chr14:105331619-105340643	Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
31	nsv566136	chr14:105331893-105348039	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv566137	chr14:105332322-105359556	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105329800-105333200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:105330000-105333200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:105330000-105333400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:105330000-105333400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:105330200-105333000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:105331200-105333000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:105331200-105333200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:105331400-105333000	Active TSS	HSMM	muscle
9	chr14:105331800-105333000	Active TSS	NHDF-Ad	bronchial
10	chr14:105332000-105333000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:105332200-105333000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105332200-105333000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr14:105332200-105333000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr14:105332200-105333000	Flanking Active TSS	Right Ventricle	heart
15	chr14:105332200-105333200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr14:105332200-105333400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr14:105332200-105333400	Enhancers	Spleen	Spleen
18	chr14:105332200-105333600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr14:105332200-105334000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr14:105332400-105333000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:105332400-105333000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:105332400-105333000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:105332400-105333000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:105332400-105333000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr14:105332400-105333000	Flanking Active TSS	Right Atrium	heart
26	chr14:105332400-105333200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:105332400-105333200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:105332400-105333200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:105332400-105333200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:105332400-105333200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:105332400-105333200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:105332400-105333200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:105332400-105333200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr14:105332400-105333200	Flanking Active TSS	NH-A	brain
35	chr14:105332400-105333400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:105332400-105333400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:105332600-105333000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr14:105332600-105333000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:105332600-105333000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:105332600-105333000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:105332600-105333000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:105332600-105333000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr14:105332600-105333000	Flanking Active TSS	Aorta	Aorta
44	chr14:105332600-105333000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr14:105332600-105333000	Weak transcription	Fetal Kidney	kidney
46	chr14:105332600-105333000	Flanking Active TSS	Fetal Lung	lung
47	chr14:105332600-105333000	Flanking Active TSS	Lung	lung
48	chr14:105332600-105333000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
49	chr14:105332600-105333200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr14:105332600-105333200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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