Variant report

Variant	rs2057285
Chromosome Location	chr14:31092360-31092361
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
2	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
3	chr14:31090421..31092379-chr14:31107832..31110754,2	MCF-7	breast:
4	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
5	chr14:31060440..31063351-chr14:31089762..31092777,3	MCF-7	breast:
6	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
7	chr14:31078979..31080673-chr14:31091206..31092941,2	MCF-7	breast:
8	chr14:31067708..31069634-chr14:31090291..31092583,3	MCF-7	breast:
9	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:
10	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100473	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000092108	Chromatin interaction
ENSG00000092140	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10130633	1.00[AMR][1000 genomes]
rs10132700	1.00[AMR][1000 genomes]
rs10134728	1.00[AMR][1000 genomes]
rs10139488	1.00[AMR][1000 genomes]
rs11551508	1.00[AMR][1000 genomes]
rs13379272	1.00[AMR][1000 genomes]
rs17097117	1.00[AMR][1000 genomes]
rs17097121	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31090200-31092400	Active TSS	Duodenum Mucosa	Duodenum
2	chr14:31090200-31092400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr14:31090200-31092400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:31090200-31092400	Active TSS	Placenta	Placenta
5	chr14:31090200-31092400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:31090200-31092600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr14:31090200-31092800	Active TSS	Fetal Intestine Large	intestine
8	chr14:31090200-31092800	Active TSS	Psoas Muscle	Psoas
9	chr14:31090200-31093000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:31090200-31093200	Active TSS	Fetal Lung	lung
11	chr14:31090200-31093400	Active TSS	Fetal Brain Female	brain
12	chr14:31090200-31093400	Active TSS	Right Atrium	heart
13	chr14:31090200-31093600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:31090400-31092400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:31090400-31092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:31090400-31092400	Active TSS	Colonic Mucosa	Colon
17	chr14:31090400-31092600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:31090400-31092600	Active TSS	Brain Angular Gyrus	brain
19	chr14:31090400-31092600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:31090400-31092600	Active TSS	Right Ventricle	heart
21	chr14:31090400-31092800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:31090400-31092800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr14:31090400-31092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:31090400-31092800	Active TSS	Fetal Intestine Small	intestine
25	chr14:31090400-31092800	Active TSS	Fetal Stomach	stomach
26	chr14:31090400-31092800	Active TSS	Rectal Smooth Muscle	rectum
27	chr14:31090400-31093000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:31090400-31093000	Active TSS	A549	lung
29	chr14:31090400-31093200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:31090400-31093200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:31090400-31093200	Active TSS	Colon Smooth Muscle	Colon
32	chr14:31090400-31093200	Active TSS	Fetal Kidney	kidney
33	chr14:31090400-31093200	Active TSS	K562	blood
34	chr14:31090400-31093400	Active TSS	Aorta	Aorta
35	chr14:31090600-31092400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr14:31090600-31092400	Active TSS	Fetal Heart	heart
37	chr14:31090600-31092400	Active TSS	Stomach Mucosa	stomach
38	chr14:31090600-31092400	Active TSS	Thymus	Thymus
39	chr14:31090600-31092600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:31090600-31092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:31090600-31092600	Active TSS	Brain Hippocampus Middle	brain
42	chr14:31090600-31092800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr14:31090600-31093000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:31090600-31093000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:31090600-31093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:31090600-31093600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:31090800-31092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:31090800-31092400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:31090800-31092600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:31090800-31092600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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