Variant report

Variant	rs16951079
Chromosome Location	chr18:7037639-7037640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7036570..7038224-chr18:7040056..7042597,2	K562	blood:

Variant related genes	Relation type
ENSG00000101680	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10221290	1.00[AMR][1000 genomes]
rs16951096	1.00[AMR][1000 genomes]
rs28390147	1.00[AMR][1000 genomes]
rs28464173	1.00[AMR][1000 genomes]
rs28478923	1.00[AMR][1000 genomes]
rs28558158	1.00[AMR][1000 genomes]
rs57293819	1.00[AMR][1000 genomes]
rs58126237	1.00[AMR][1000 genomes]
rs59157781	1.00[AMR][1000 genomes]
rs7234464	1.00[AMR][1000 genomes]
rs7234472	1.00[AMR][1000 genomes]
rs7238798	1.00[AMR][1000 genomes]
rs73378901	1.00[AMR][1000 genomes]
rs8089093	1.00[AMR][1000 genomes]
rs9947037	1.00[AMR][1000 genomes]
rs9958437	1.00[AMR][1000 genomes]
rs9966395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1059956	chr18:6786579-7382339	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv543632	chr18:6786579-7382339	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv1059970	chr18:6846443-7281397	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv543633	chr18:6846443-7281397	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv1064956	chr18:6846503-7281337	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription 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	29 gene(s)	inside rSNPs	diseases
12	nsv543634	chr18:6846503-7281337	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	esv3584943	chr18:6873354-7434329	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv817574	chr18:6894969-7577149	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv868851	chr18:6947043-7470214	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1056521	chr18:7010334-7169550	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7005000-7051800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:7005200-7041400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:7011800-7037800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:7013200-7052000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:7021200-7038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:7022200-7038200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:7024400-7038600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:7026400-7055000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:7026600-7038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:7030800-7038200	Weak transcription	Fetal Kidney	kidney
11	chr18:7032000-7038000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:7032000-7038200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:7032000-7038600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr18:7032000-7038800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:7034000-7038600	Weak transcription	Fetal Brain Female	brain
16	chr18:7034000-7039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:7034400-7038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:7035400-7037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:7035400-7038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:7035400-7038200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr18:7035400-7061400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:7035800-7038200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:7035800-7038200	Weak transcription	Ovary	ovary
24	chr18:7035800-7038400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr18:7036200-7049600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr18:7036600-7038200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:7036600-7038200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:7036800-7037800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:7036800-7038000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:7036800-7038000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr18:7037000-7038200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:7037000-7038200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:7037000-7038200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:7037000-7038200	Enhancers	HMEC	breast
35	chr18:7037200-7037800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:7037400-7037800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr18:7037400-7038000	Enhancers	NHLF	lung
38	chr18:7037400-7038200	Enhancers	Osteobl	bone
39	chr18:7037400-7038400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:7037400-7038400	Flanking Active TSS	Hela-S3	cervix
41	chr18:7037400-7038800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:7037600-7038000	Enhancers	NHDF-Ad	bronchial
43	chr18:7037600-7038200	Enhancers	Fetal Muscle Trunk	muscle

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