Variant report

Variant	rs2083543
Chromosome Location	chr14:105356033-105356034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105355949-105356190	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:105355795-105356278	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105271769..105274271-chr14:105354431..105356106,2	MCF-7	breast:
2	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
3	chr14:105347000..105348818-chr14:105354613..105356174,2	K562	blood:
4	chr14:105354054..105356669-chr14:105361595..105363882,2	MCF-7	breast:
5	chr14:105346924..105348500-chr14:105353592..105356174,2	K562	blood:

No data

Variant related genes	Relation type
CEP170B	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1982230	1.00[YRI][hapmap]
rs2582500	1.00[YRI][hapmap]
rs2582518	1.00[YRI][hapmap]
rs2582541	1.00[YRI][hapmap]
rs2819445	1.00[YRI][hapmap]
rs2841234	1.00[YRI][hapmap]
rs2841241	1.00[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:80 , 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	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
7	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:105343800-105356200	Strong transcription	Lung	lung
9	chr14:105347400-105362400	Weak transcription	HepG2	liver
10	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
11	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
12	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:105349400-105356200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:105349400-105359600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:105350200-105361200	Weak transcription	Stomach Mucosa	stomach
16	chr14:105350600-105362000	Weak transcription	Small Intestine	intestine
17	chr14:105351000-105361800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:105351400-105356200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:105351400-105356200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr14:105351800-105356200	Strong transcription	HMEC	breast
21	chr14:105352200-105356200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:105352200-105363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:105352600-105365200	Weak transcription	Fetal Lung	lung
24	chr14:105353200-105363600	Weak transcription	Osteobl	bone
25	chr14:105353400-105356200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:105353600-105356200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:105353600-105360400	Weak transcription	HUVEC	blood vessel
28	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
29	chr14:105354200-105360400	Weak transcription	Left Ventricle	heart
30	chr14:105354400-105361600	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:105354400-105362600	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:105354400-105364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:105354600-105358000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:105354600-105359200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105354600-105360000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:105354600-105360200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:105354600-105361600	Weak transcription	A549	lung
38	chr14:105354600-105362000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:105354600-105362200	Weak transcription	Brain Angular Gyrus	brain
40	chr14:105354600-105363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:105354800-105359000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:105354800-105360200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:105354800-105362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:105354800-105365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:105355000-105359400	Weak transcription	NHLF	lung
46	chr14:105355200-105356200	ZNF genes & repeats	Spleen	Spleen
47	chr14:105355200-105361000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:105355200-105365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:105355400-105356200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:105355400-105356200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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