Variant report

Variant	rs73365112
Chromosome Location	chr14:96834245-96834246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:96834196-96834353	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:96832533..96835166-chr14:96842299..96844753,2	K562	blood:
2	chr14:96832533..96836549-chr14:96841443..96844753,3	K562	blood:
3	chr14:96833979..96835990-chr14:96852441..96854464,2	K562	blood:
4	chr14:96834219..96835842-chr14:96855167..96857804,2	K562	blood:
5	chr14:96834226..96836450-chr14:96968123..96969843,2	K562	blood:
6	chr14:96833133..96837114-chr14:96856602..96859968,4	MCF-7	breast:
7	chr14:96796623..96798898-chr14:96832945..96835224,2	K562	blood:
8	chr14:96833699..96836634-chr14:96857275..96859344,2	K562	blood:

No data

Variant related genes	Relation type
ATG2B	TF binding region
ENSG00000140057	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000260806	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17094176	1.00[AMR][1000 genomes]
rs28701482	1.00[AMR][1000 genomes]
rs55688559	1.00[AMR][1000 genomes]
rs56137414	1.00[AMR][1000 genomes]
rs56265756	1.00[AMR][1000 genomes]
rs56296574	1.00[AMR][1000 genomes]
rs58550318	1.00[AMR][1000 genomes]
rs59461473	1.00[AMR][1000 genomes]
rs60121386	1.00[AMR][1000 genomes]
rs60248045	1.00[AMR][1000 genomes]
rs7146082	1.00[AMR][1000 genomes]
rs7146728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349211	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363250	1.00[AMR][1000 genomes]
rs73363256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363276	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73365110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086703	1.00[AMR][1000 genomes]
rs74086710	1.00[AMR][1000 genomes]
rs74086716	1.00[AMR][1000 genomes]
rs74086718	1.00[AMR][1000 genomes]
rs74086723	1.00[AMR][1000 genomes]
rs74086724	1.00[AMR][1000 genomes]
rs74086728	1.00[AMR][1000 genomes]
rs74086730	1.00[AMR][1000 genomes]
rs74086735	1.00[AMR][1000 genomes]
rs74086741	1.00[AMR][1000 genomes]
rs74090353	1.00[AMR][1000 genomes]
rs74090354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv530800	chr14:96253695-96920094	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
4	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
6	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96830800-96849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:96830800-96857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:96830800-96857400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:96830800-96857400	Weak transcription	Aorta	Aorta
5	chr14:96831000-96835800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:96831000-96849200	Weak transcription	Fetal Stomach	stomach
7	chr14:96831200-96834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:96831200-96850000	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:96831200-96857200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:96831200-96857400	Weak transcription	Psoas Muscle	Psoas
11	chr14:96831400-96836200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:96831400-96840800	Weak transcription	Fetal Intestine Large	intestine
13	chr14:96831400-96844000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:96831400-96844000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:96831400-96844200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:96831400-96848600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:96831400-96848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:96831400-96848600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:96831400-96849200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:96831400-96849200	Weak transcription	Left Ventricle	heart
21	chr14:96831400-96849400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:96831400-96851800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:96831400-96856600	Weak transcription	Thymus	Thymus
24	chr14:96831400-96857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:96831400-96857200	Weak transcription	Fetal Brain Male	brain
26	chr14:96831400-96857400	Weak transcription	Ovary	ovary
27	chr14:96831400-96857600	Weak transcription	Esophagus	oesophagus
28	chr14:96831400-96857600	Weak transcription	Lung	lung
29	chr14:96831600-96834800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:96831600-96835400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:96831600-96835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr14:96831600-96835600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:96831600-96835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:96831600-96836600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:96831600-96844400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:96831600-96847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:96831600-96848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:96831600-96848400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:96831600-96848600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:96831600-96849600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:96831600-96849800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:96831600-96850000	Weak transcription	NHDF-Ad	bronchial
43	chr14:96831600-96857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:96831600-96857600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:96831800-96836600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:96831800-96840600	Weak transcription	Primary T cells from cord blood	blood
47	chr14:96831800-96842200	Weak transcription	Hela-S3	cervix
48	chr14:96831800-96845000	Weak transcription	Primary B cells from cord blood	blood
49	chr14:96831800-96848600	Weak transcription	Fetal Thymus	thymus
50	chr14:96831800-96848600	Weak transcription	HMEC	breast

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