Variant report

Variant	rs10483252
Chromosome Location	chr14:21982353-21982354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21979579..21981234-chr14:21982040..21984271,2	MCF-7	breast:
3	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
4	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165821	Chromatin interaction
ENSG00000257096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045811	0.85[MEX][hapmap]
rs1045812	0.85[MEX][hapmap]
rs12878084	0.81[MEX][hapmap]
rs17106448	0.85[MEX][hapmap]
rs2022747	1.00[CHB][hapmap]
rs4981372	0.89[MEX][hapmap]

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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21979600-21982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21979600-21982400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21979600-21982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:21979600-21989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21980000-21987200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:21980000-21990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
8	chr14:21980200-21982400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:21980200-21982600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:21980200-21988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:21980200-21988200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:21980200-21989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:21980200-21989800	Weak transcription	Brain Germinal Matrix	brain
14	chr14:21980200-21990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:21980200-21990000	Weak transcription	Ovary	ovary
16	chr14:21980200-21990200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:21980200-21991400	Weak transcription	Fetal Kidney	kidney
18	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
19	chr14:21980400-21982400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:21980400-21982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:21980400-21988600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:21980400-21988800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:21980400-21989000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:21980400-21989800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:21980400-21990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:21980400-21990000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:21980400-21990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:21980400-21990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:21980400-21991400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:21980600-21983200	Enhancers	HepG2	liver
31	chr14:21980600-21991800	Weak transcription	Fetal Lung	lung
32	chr14:21980600-21991800	Weak transcription	Dnd41	blood
33	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:21982000-21983000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:21982200-21982600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:21982200-21982800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:21982200-21983000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:21982200-21983200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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