Variant report

Variant	rs74053646
Chromosome Location	chr14:56115657-56115658
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56113692..56116512-chr14:56123800..56126287,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1951888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56322135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56723444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59821184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61533026	0.84[AFR][1000 genomes]
rs74051603	0.85[AFR][1000 genomes]
rs74053630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053661	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56132200	Strong transcription	Dnd41	blood
3	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
5	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
7	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56088400-56153200	Weak transcription	Gastric	stomach
9	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56094400-56132600	Strong transcription	HSMM	muscle
11	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:56098600-56121600	Weak transcription	Small Intestine	intestine
15	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:56099400-56118600	Strong transcription	Hela-S3	cervix
17	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr14:56101800-56118200	Weak transcription	Fetal Brain Female	brain
20	chr14:56101800-56121600	Weak transcription	Pancreas	Pancrea
21	chr14:56101800-56123200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
23	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
24	chr14:56102400-56121600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:56102400-56121600	Weak transcription	Esophagus	oesophagus
26	chr14:56102400-56145200	Weak transcription	Lung	lung
27	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
28	chr14:56103200-56117000	Weak transcription	K562	blood
29	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
30	chr14:56104000-56115800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:56104600-56119600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:56104600-56121600	Weak transcription	Ovary	ovary
33	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:56104800-56121600	Weak transcription	Left Ventricle	heart
35	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:56105000-56122600	Weak transcription	NHLF	lung
38	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
40	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:56107000-56121600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:56108400-56120800	Weak transcription	NHEK	skin
43	chr14:56109000-56117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:56109200-56132000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr14:56109400-56116600	Weak transcription	Fetal Lung	lung
48	chr14:56109400-56116800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:56109400-56116800	Weak transcription	Brain Substantia Nigra	brain
50	chr14:56109600-56116600	Weak transcription	Colon Smooth Muscle	Colon

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