Variant report

Variant	rs45571637
Chromosome Location	chr14:68056453-68056454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68054786..68057485-chr14:68065333..68068448,3	MCF-7	breast:
2	chr14:68049424..68054139-chr14:68054942..68059059,5	K562	blood:
3	chr14:68054347..68057531-chr14:68058790..68061561,4	K562	blood:
4	chr14:68054530..68056540-chr14:68057938..68060602,2	MCF-7	breast:
5	chr14:68055206..68057571-chr14:68140075..68142050,2	K562	blood:
6	chr14:68048497..68050924-chr14:68055092..68056749,2	K562	blood:

Variant related genes	Relation type
ENSG00000100564	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2236230	0.86[ASN][1000 genomes]
rs35108968	0.97[ASN][1000 genomes]
rs3809389	0.88[ASN][1000 genomes]
rs56785855	0.87[ASN][1000 genomes]
rs61990085	0.97[ASN][1000 genomes]
rs749269	0.94[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv519078	chr14:68055884-68057876	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv516552	chr14:68056390-68057876	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	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	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
2	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68034600-68057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:68038600-68057800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr14:68039400-68057200	Strong transcription	Brain Germinal Matrix	brain
6	chr14:68039400-68057400	Strong transcription	Brain Anterior Caudate	brain
7	chr14:68039600-68061000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:68040000-68057800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:68040800-68057800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68042200-68057000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:68042400-68062000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:68044600-68065800	Weak transcription	Fetal Kidney	kidney
13	chr14:68044800-68061200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68045000-68057000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:68045000-68057600	Strong transcription	Brain Substantia Nigra	brain
16	chr14:68045000-68061000	Strong transcription	Placenta	Placenta
17	chr14:68047400-68065800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:68047600-68057600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr14:68048000-68059800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:68048000-68065600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:68048000-68066200	Weak transcription	Colonic Mucosa	Colon
22	chr14:68048400-68063000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr14:68048600-68056600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:68048800-68058800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:68049000-68056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:68049200-68064800	Weak transcription	Stomach Mucosa	stomach
27	chr14:68050200-68059200	Strong transcription	Brain Angular Gyrus	brain
28	chr14:68050200-68059600	Strong transcription	Fetal Brain Female	brain
29	chr14:68050200-68062600	Strong transcription	Fetal Stomach	stomach
30	chr14:68050600-68057600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:68050800-68056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:68050800-68057800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:68051000-68065600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:68051000-68066000	Weak transcription	Fetal Heart	heart
35	chr14:68051400-68061000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:68051600-68057600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:68051800-68061000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:68051800-68064600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:68052000-68057600	Strong transcription	Spleen	Spleen
40	chr14:68052000-68061000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:68052200-68057000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:68052200-68057600	Strong transcription	Gastric	stomach
43	chr14:68052200-68059600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:68052200-68061000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:68052200-68061200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:68052200-68061200	Strong transcription	Left Ventricle	heart
47	chr14:68052200-68062600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:68052400-68056800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:68052400-68057000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:68052400-68059400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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