Variant report

Variant	rs963897
Chromosome Location	chr14:78015132-78015133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:78015020-78015170	GM12865	blood:	n/a	n/a
2	POLR2A	chr14:78015032-78015167	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78013590..78016333-chr14:78173040..78175809,2	MCF-7	breast:
2	chr14:78014573..78016241-chr14:78173226..78176092,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL587P	TF binding region
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10132095	0.93[YRI][hapmap]
rs10136221	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142919	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873306	0.82[YRI][hapmap]
rs12889681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474504	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1973866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2091915	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2142186	0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2178876	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364159	0.92[YRI][hapmap]
rs2364160	0.93[YRI][hapmap]
rs4145507	0.91[YRI][hapmap]
rs4899657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4903598	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4903601	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4903609	1.00[AMR][1000 genomes]
rs4903612	1.00[AMR][1000 genomes]
rs6574380	0.80[AFR][1000 genomes]
rs6574381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157218	0.92[YRI][hapmap]
rs7157643	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7400794	1.00[AMR][1000 genomes]
rs7401921	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7401985	0.81[AFR][1000 genomes]
rs760258	0.92[YRI][hapmap]
rs8003293	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8004422	1.00[AMR][1000 genomes]
rs8010591	1.00[AMR][1000 genomes]
rs8022297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs926114	0.92[YRI][hapmap]
rs926115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972134	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
3	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
4	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:77987800-78015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:77988000-78015200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:77988000-78015600	Weak transcription	Right Ventricle	heart
9	chr14:77988400-78029400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:77997800-78018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:78002200-78020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:78006800-78019000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:78008200-78015600	Weak transcription	NHLF	lung
14	chr14:78008200-78019000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:78009200-78015400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:78009600-78015600	Weak transcription	Brain Germinal Matrix	brain
17	chr14:78009600-78019400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:78009600-78021200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:78009600-78030000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:78009800-78050800	Weak transcription	Psoas Muscle	Psoas
21	chr14:78010000-78016400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:78010000-78018800	Strong transcription	NH-A	brain
23	chr14:78010000-78019800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:78010000-78029800	Strong transcription	Primary T cells from cord blood	blood
25	chr14:78010200-78015800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:78010200-78019000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:78010200-78020400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:78010200-78026800	Weak transcription	Stomach Mucosa	stomach
29	chr14:78010400-78015200	Weak transcription	HUVEC	blood vessel
30	chr14:78010400-78017200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr14:78010400-78018600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr14:78010400-78030000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:78010600-78016400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:78010600-78017000	Strong transcription	Adipose Nuclei	Adipose
35	chr14:78010600-78017200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:78010600-78019200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:78010600-78025000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:78010800-78016400	Strong transcription	Primary B cells from cord blood	blood
39	chr14:78010800-78018600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:78010800-78019000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:78011000-78020000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr14:78011000-78031800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:78011200-78019000	Strong transcription	Osteobl	bone
44	chr14:78011200-78045800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:78011400-78019000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:78011400-78037400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:78012000-78016400	Strong transcription	Liver	Liver
48	chr14:78012400-78015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:78012800-78019000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:78013000-78015400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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