Variant report

Variant	rs17752117
Chromosome Location	chr14:78081469-78081470
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78069297..78071425-chr14:78081435..78083020,2	K562	blood:
2	chr14:78080102..78083060-chr14:78184904..78187965,3	K562	blood:
3	chr14:78064657..78067063-chr14:78079647..78083000,3	MCF-7	breast:
4	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12432073	0.80[AFR][1000 genomes]
rs17752628	1.00[MEX][hapmap]
rs17752640	1.00[MEX][hapmap]
rs17825554	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
3	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:78070200-78081600	Weak transcription	Liver	Liver
5	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
6	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
8	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
9	chr14:78075600-78082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:78076600-78082000	Weak transcription	Gastric	stomach
11	chr14:78076800-78081600	Weak transcription	Lung	lung
12	chr14:78077200-78082000	Weak transcription	Spleen	Spleen
13	chr14:78078200-78082000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:78078800-78081600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:78079000-78081600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:78079400-78081600	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:78079800-78081600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:78079800-78081600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr14:78080200-78081600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:78080200-78083800	Active TSS	GM12878-XiMat	blood
21	chr14:78080400-78081800	Weak transcription	Small Intestine	intestine
22	chr14:78080600-78081600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr14:78081000-78081600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:78081000-78082000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:78081000-78082400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:78081200-78081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:78081200-78081600	Active TSS	Brain Hippocampus Middle	brain
28	chr14:78081200-78081600	Enhancers	Fetal Brain Male	brain
29	chr14:78081200-78081600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr14:78081200-78081800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr14:78081200-78082000	Flanking Active TSS	HMEC	breast
32	chr14:78081200-78082200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:78081200-78082400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr14:78081200-78082400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr14:78081200-78082600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr14:78081200-78082800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr14:78081200-78083600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:78081400-78081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:78081400-78081600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr14:78081400-78081600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:78081400-78081600	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:78081400-78081600	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr14:78081400-78081600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr14:78081400-78081600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:78081400-78081600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:78081400-78081600	Active TSS	Brain Anterior Caudate	brain
47	chr14:78081400-78081600	Active TSS	Brain Cingulate Gyrus	brain
48	chr14:78081400-78081600	Enhancers	Brain Germinal Matrix	brain
49	chr14:78081400-78081600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:78081400-78081600	Enhancers	Colonic Mucosa	Colon

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