Variant report

Variant	rs8022847
Chromosome Location	chr14:35688963-35688964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35688326..35690057-chr14:35697484..35700212,2	MCF-7	breast:
2	chr14:35688330..35694959-chr14:35872168..35876310,11	MCF-7	breast:
3	chr14:35686289..35689238-chr14:35690846..35692653,2	K562	blood:
4	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
5	chr14:35688941..35691439-chr14:35716657..35719579,2	MCF-7	breast:
6	chr14:35681343..35684647-chr14:35685694..35689200,4	MCF-7	breast:
7	chr14:35688537..35690665-chr14:35760746..35762311,2	MCF-7	breast:
8	chr14:35687707..35690246-chr14:35690578..35692404,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131059	1.00[AMR][1000 genomes]
rs17103064	1.00[AMR][1000 genomes]
rs2415266	1.00[AMR][1000 genomes]
rs28838057	1.00[AMR][1000 genomes]
rs4981272	1.00[AMR][1000 genomes]
rs6571703	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
17	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
18	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
19	nsv564314	chr14:35684196-35702857	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv564315	chr14:35684196-35703839	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650600-35702600	Weak transcription	Liver	Liver
3	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:35655800-35691800	Weak transcription	Psoas Muscle	Psoas
5	chr14:35661000-35690000	Weak transcription	Fetal Stomach	stomach
6	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
7	chr14:35670800-35691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:35672200-35690200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:35672200-35700000	Weak transcription	Thymus	Thymus
11	chr14:35673600-35691200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:35674400-35698600	Weak transcription	Dnd41	blood
13	chr14:35674400-35699600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:35674800-35737000	Weak transcription	Lung	lung
16	chr14:35675600-35691400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:35675600-35692200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:35675600-35699200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:35679600-35699400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:35679800-35692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:35679800-35699800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:35680000-35698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:35680200-35691600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:35680400-35691800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
27	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:35681600-35690800	Weak transcription	Aorta	Aorta
29	chr14:35683000-35689800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:35683600-35690200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:35683600-35691600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:35683600-35693600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:35683800-35693200	Weak transcription	NH-A	brain
34	chr14:35683800-35693200	Weak transcription	NHLF	lung
35	chr14:35684000-35706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:35684400-35689600	Weak transcription	NHDF-Ad	bronchial
37	chr14:35684400-35690400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:35684600-35690400	Weak transcription	NHEK	skin
39	chr14:35684600-35691000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:35684600-35699000	Weak transcription	GM12878-XiMat	blood
41	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:35684600-35760800	Weak transcription	HSMM	muscle
43	chr14:35684800-35693000	Weak transcription	HSMMtube	muscle
44	chr14:35684800-35703000	Weak transcription	HMEC	breast
45	chr14:35685000-35690200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:35685000-35690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:35685000-35690400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:35685000-35690600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:35685000-35690800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:35685000-35693200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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