Variant report

Variant	rs73348279
Chromosome Location	chr14:45437943-45437944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45437222..45438857-chr14:45461418..45463222,2	MCF-7	breast:
2	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:
3	chr14:45435660..45437969-chr14:45722310..45723934,2	MCF-7	breast:
4	chr14:45436492..45438652-chr14:45553209..45555936,2	MCF-7	breast:
5	chr14:45430554..45432719-chr14:45436905..45438699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000129534	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11846891	0.85[AFR][1000 genomes]
rs11847071	0.98[AFR][1000 genomes]
rs59017481	0.85[AFR][1000 genomes]
rs73334137	0.91[AFR][1000 genomes]
rs73334178	0.91[AFR][1000 genomes]
rs73346308	0.91[AFR][1000 genomes]
rs73346313	1.00[AMR][1000 genomes]
rs73346324	0.91[AFR][1000 genomes]
rs73346327	0.85[AMR][1000 genomes]
rs73346329	0.85[AMR][1000 genomes]
rs73346345	1.00[AMR][1000 genomes]
rs73348059	0.84[AFR][1000 genomes]
rs73348082	0.85[AFR][1000 genomes]
rs73348288	0.85[AMR][1000 genomes]
rs73350005	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
2	chr14:45433600-45439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45433800-45440200	Weak transcription	Placenta	Placenta
4	chr14:45434200-45441000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:45434400-45438800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
7	chr14:45435800-45438200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr14:45436200-45438400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:45436200-45438400	Weak transcription	Left Ventricle	heart
10	chr14:45436200-45440200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:45436200-45441200	Weak transcription	Spleen	Spleen
12	chr14:45436200-45441600	Weak transcription	Lung	lung
13	chr14:45436200-45445600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:45436200-45486600	Weak transcription	Gastric	stomach
15	chr14:45436400-45438800	Weak transcription	Psoas Muscle	Psoas
16	chr14:45436400-45438800	Weak transcription	HSMM	muscle
17	chr14:45436600-45438000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:45436800-45441200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:45436800-45461400	Weak transcription	K562	blood
20	chr14:45437000-45438000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:45437000-45438000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:45437000-45438000	Weak transcription	Small Intestine	intestine
23	chr14:45437000-45438200	Enhancers	Adipose Nuclei	Adipose
24	chr14:45437000-45438200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:45437000-45438400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:45437000-45438400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:45437000-45438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:45437000-45439000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:45437000-45439000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:45437000-45439200	Weak transcription	NH-A	brain
31	chr14:45437000-45439200	Weak transcription	NHEK	skin
32	chr14:45437000-45439800	Weak transcription	Osteobl	bone
33	chr14:45437000-45440000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:45437000-45441200	Weak transcription	Fetal Lung	lung
35	chr14:45437000-45444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
37	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:45437200-45438000	Weak transcription	Thymus	Thymus
45	chr14:45437200-45438200	Active TSS	Brain Germinal Matrix	brain
46	chr14:45437200-45438400	Weak transcription	Ovary	ovary
47	chr14:45437200-45438600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:45437200-45439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:45437200-45439200	Enhancers	Fetal Brain Male	brain
50	chr14:45437200-45440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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