Variant report

Variant	rs568983781
Chromosome Location	chr14:105350748-105350749
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
2	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
3	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
4	chr14:105349215..105352197-chr14:105846638..105849114,2	K562	blood:
5	chr14:105349366..105351471-chr14:105398354..105401032,2	MCF-7	breast:
6	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
7	chr14:105329866..105333084-chr14:105347618..105350775,5	MCF-7	breast:
8	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179364	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000099814	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv566140	chr14:105347488-105359556	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	esv3327813	chr14:105350207-105352330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv827078	chr14:105350248-105351006	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv820719	chr14:105350248-105351582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv827079	chr14:105350248-105351582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
3	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:105339600-105363000	Weak transcription	NH-A	brain
5	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
7	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
11	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
12	chr14:105343200-105351800	Weak transcription	Hela-S3	cervix
13	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
14	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:105343800-105356200	Strong transcription	Lung	lung
16	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
17	chr14:105345000-105353200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:105346600-105356000	Strong transcription	Ovary	ovary
19	chr14:105347200-105351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:105347200-105351800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:105347400-105351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:105347400-105351800	Weak transcription	Brain Angular Gyrus	brain
23	chr14:105347400-105352200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:105347400-105352200	Weak transcription	Fetal Lung	lung
25	chr14:105347400-105362400	Weak transcription	HepG2	liver
26	chr14:105347600-105353400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:105347800-105353600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:105348000-105355800	Strong transcription	Brain Germinal Matrix	brain
29	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
31	chr14:105348400-105356000	Strong transcription	Aorta	Aorta
32	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:105349000-105356000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:105349000-105356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:105349200-105350800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr14:105349200-105350800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr14:105349200-105350800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:105349200-105352200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:105349200-105352200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:105349200-105354600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr14:105349200-105355000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:105349200-105356000	Strong transcription	Gastric	stomach
43	chr14:105349400-105351000	Strong transcription	Spleen	Spleen
44	chr14:105349400-105351600	Weak transcription	A549	lung
45	chr14:105349400-105355400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:105349400-105356000	Strong transcription	Right Ventricle	heart
47	chr14:105349400-105356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:105349600-105350800	Strong transcription	Left Ventricle	heart
50	chr14:105349600-105354600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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