Variant report

Variant	rs73353647
Chromosome Location	chr14:45524197-45524198
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	chr14:45429436..45431414-chr14:45522912..45525837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10129173	0.84[ASN][1000 genomes]
rs10131066	0.95[ASN][1000 genomes]
rs10131615	1.00[ASN][1000 genomes]
rs10132389	0.86[ASN][1000 genomes]
rs10132547	0.86[ASN][1000 genomes]
rs10132949	0.86[ASN][1000 genomes]
rs10134071	0.92[ASN][1000 genomes]
rs10135890	0.86[ASN][1000 genomes]
rs10136008	0.86[ASN][1000 genomes]
rs10136855	0.86[ASN][1000 genomes]
rs10138272	0.86[ASN][1000 genomes]
rs10139998	0.86[ASN][1000 genomes]
rs10140013	0.81[ASN][1000 genomes]
rs10140108	0.81[ASN][1000 genomes]
rs10140222	0.86[ASN][1000 genomes]
rs10140318	0.86[ASN][1000 genomes]
rs10145092	0.86[ASN][1000 genomes]
rs10146395	1.00[ASN][1000 genomes]
rs10147499	0.86[ASN][1000 genomes]
rs10149484	0.86[ASN][1000 genomes]
rs1053667	0.98[ASN][1000 genomes]
rs11844832	0.95[ASN][1000 genomes]
rs11845088	0.86[ASN][1000 genomes]
rs11845956	0.86[ASN][1000 genomes]
rs11846656	0.86[ASN][1000 genomes]
rs11848799	0.81[ASN][1000 genomes]
rs11849208	0.86[ASN][1000 genomes]
rs11849583	0.86[ASN][1000 genomes]
rs11850363	0.86[ASN][1000 genomes]
rs12100842	0.92[ASN][1000 genomes]
rs17115703	0.81[ASN][1000 genomes]
rs17115718	0.86[ASN][1000 genomes]
rs17115787	1.00[ASN][1000 genomes]
rs2016738	0.87[AMR][1000 genomes]
rs28448551	0.86[ASN][1000 genomes]
rs28517769	0.86[ASN][1000 genomes]
rs28558522	0.81[ASN][1000 genomes]
rs28572336	0.82[ASN][1000 genomes]
rs28594810	0.86[ASN][1000 genomes]
rs28622413	0.86[ASN][1000 genomes]
rs28681969	0.86[ASN][1000 genomes]
rs28695721	0.81[ASN][1000 genomes]
rs28703636	0.86[ASN][1000 genomes]
rs2899960	0.86[ASN][1000 genomes]
rs3742591	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4141578	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56706956	0.86[ASN][1000 genomes]
rs56836063	0.95[ASN][1000 genomes]
rs57614513	0.86[ASN][1000 genomes]
rs57694277	1.00[ASN][1000 genomes]
rs60891427	0.86[ASN][1000 genomes]
rs61707578	0.86[ASN][1000 genomes]
rs66488071	0.87[ASN][1000 genomes]
rs66535982	0.86[ASN][1000 genomes]
rs66662385	0.81[ASN][1000 genomes]
rs67643245	0.86[ASN][1000 genomes]
rs7146566	0.95[ASN][1000 genomes]
rs7147644	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7158846	0.81[ASN][1000 genomes]
rs72621070	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73334135	0.81[ASN][1000 genomes]
rs73334148	0.81[ASN][1000 genomes]
rs73334154	0.81[ASN][1000 genomes]
rs73334157	0.81[ASN][1000 genomes]
rs73334162	0.81[ASN][1000 genomes]
rs73334165	0.81[ASN][1000 genomes]
rs73334172	0.81[ASN][1000 genomes]
rs73334176	0.81[ASN][1000 genomes]
rs73334913	0.98[ASN][1000 genomes]
rs73346360	0.87[ASN][1000 genomes]
rs73348060	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73348062	0.82[ASN][1000 genomes]
rs73348065	0.84[ASN][1000 genomes]
rs73348069	0.86[ASN][1000 genomes]
rs73348075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73348076	0.86[ASN][1000 genomes]
rs73348079	0.83[ASN][1000 genomes]
rs73348088	0.86[ASN][1000 genomes]
rs73348095	0.86[ASN][1000 genomes]
rs73348285	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73349816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73349820	0.95[ASN][1000 genomes]
rs73349823	0.87[AFR][1000 genomes]
rs73349835	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73350007	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73350201	0.86[ASN][1000 genomes]
rs73352233	0.86[ASN][1000 genomes]
rs73352238	0.86[ASN][1000 genomes]
rs73352246	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73353641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73353644	1.00[ASN][1000 genomes]
rs73353650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73353653	0.91[AFR][1000 genomes]
rs73353657	0.95[ASN][1000 genomes]
rs7493246	0.84[ASN][1000 genomes]
rs7493823	0.86[ASN][1000 genomes]
rs8006685	1.00[ASN][1000 genomes]
rs8015453	0.86[ASN][1000 genomes]
rs8022008	0.86[ASN][1000 genomes]
rs8022608	0.86[ASN][1000 genomes]
rs9323106	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
3	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
4	chr14:45502200-45525600	Weak transcription	NHEK	skin
5	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
7	chr14:45508000-45540000	Weak transcription	K562	blood
8	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
12	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:45509200-45526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:45509200-45528600	Weak transcription	Esophagus	oesophagus
17	chr14:45509200-45529800	Weak transcription	Spleen	Spleen
18	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:45509200-45543400	Weak transcription	Lung	lung
20	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
22	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
23	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
24	chr14:45509200-45553000	Weak transcription	Gastric	stomach
25	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
26	chr14:45514200-45526200	Weak transcription	HepG2	liver
27	chr14:45515200-45525000	Strong transcription	Fetal Intestine Small	intestine
28	chr14:45515400-45524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:45515400-45525000	Strong transcription	Fetal Stomach	stomach
30	chr14:45515800-45528400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:45516000-45527600	Weak transcription	Hela-S3	cervix
33	chr14:45516000-45530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:45516200-45524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:45516200-45524400	Weak transcription	Fetal Kidney	kidney
36	chr14:45516200-45526000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:45516200-45531800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:45516200-45534600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:45516200-45538800	Weak transcription	Ovary	ovary
40	chr14:45516200-45539400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
42	chr14:45516400-45525400	Weak transcription	Primary B cells from cord blood	blood
43	chr14:45516400-45525400	Weak transcription	HSMMtube	muscle
44	chr14:45516400-45529800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:45516400-45530800	Weak transcription	Colonic Mucosa	Colon
46	chr14:45516400-45533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:45516400-45534600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:45516400-45539400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:45516400-45552600	Weak transcription	NH-A	brain
50	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain

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