Variant report

Variant	rs57442411
Chromosome Location	chr14:105354498-105354499
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105353151..105355417-chr14:105358751..105361227,2	K562	blood:
2	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
3	chr14:105345637..105347359-chr14:105353237..105355891,2	MCF-7	breast:
4	chr14:105353091..105355273-chr14:105361625..105363258,2	K562	blood:
5	chr14:105351476..105354651-chr14:105359301..105361618,3	K562	blood:
6	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
7	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
8	chr14:105354054..105356669-chr14:105361595..105363882,2	MCF-7	breast:
9	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099814	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs45563833	0.97[EUR][1000 genomes]
rs58276039	0.83[EUR][1000 genomes]
rs61323993	0.94[EUR][1000 genomes]
rs61731617	0.82[AFR][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	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
2	chr14:105339600-105363000	Weak transcription	NH-A	brain
3	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
4	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
8	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
9	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
10	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:105343800-105356200	Strong transcription	Lung	lung
12	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
13	chr14:105346600-105356000	Strong transcription	Ovary	ovary
14	chr14:105347400-105362400	Weak transcription	HepG2	liver
15	chr14:105348000-105355800	Strong transcription	Brain Germinal Matrix	brain
16	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
18	chr14:105348400-105356000	Strong transcription	Aorta	Aorta
19	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:105349000-105356000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:105349000-105356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:105349200-105354600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr14:105349200-105355000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:105349200-105356000	Strong transcription	Gastric	stomach
25	chr14:105349400-105355400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:105349400-105356000	Strong transcription	Right Ventricle	heart
27	chr14:105349400-105356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105349600-105354600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:105349600-105354800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:105349600-105355800	Strong transcription	NHEK	skin
32	chr14:105350000-105354600	Strong transcription	Esophagus	oesophagus
33	chr14:105350200-105354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:105350200-105355200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:105350200-105361200	Weak transcription	Stomach Mucosa	stomach
36	chr14:105350600-105355400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
38	chr14:105351000-105361800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:105351400-105354800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:105351400-105354800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105351400-105355000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:105351400-105355200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:105351400-105355600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:105351400-105355600	Strong transcription	Adipose Nuclei	Adipose
45	chr14:105351400-105355800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:105351400-105356000	Strong transcription	Liver	Liver
47	chr14:105351400-105356200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:105351400-105356200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:105351600-105354600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:105351600-105354800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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