Variant report

Variant	rs4981283
Chromosome Location	chr14:35810084-35810085
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35760612..35764048-chr14:35809630..35812978,4	MCF-7	breast:
2	chr14:35757408..35763930-chr14:35809319..35813404,11	MCF-7	breast:
3	chr14:35783009..35785578-chr14:35809337..35811839,2	MCF-7	breast:
4	chr14:35809807..35810560-chr14:35872889..35873456,4	MCF-7	breast:
5	chr14:35765428..35767078-chr14:35809489..35811845,2	MCF-7	breast:
6	chr14:35589885..35593973-chr14:35809162..35812137,5	MCF-7	breast:
7	chr14:35800587..35801136-chr14:35810062..35810609,2	MCF-7	breast:
8	chr14:35808792..35810743-chr14:35815553..35817945,2	K562	blood:
9	chr14:35592944..35595456-chr14:35809160..35811582,2	K562	blood:
10	chr14:35681682..35685352-chr14:35808762..35812906,3	MCF-7	breast:
11	chr14:35801385..35810310-chr14:35830739..35838852,15	K562	blood:
12	chr14:35500902..35503626-chr14:35810015..35811675,2	MCF-7	breast:
13	chr14:35790365..35792681-chr14:35809651..35811760,2	MCF-7	breast:
14	chr14:35809793..35810659-chr14:35872956..35873702,3	MCF-7	breast:
15	chr14:35793707..35796135-chr14:35808509..35811220,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10083375	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs10083387	0.83[ASN][1000 genomes]
rs10132397	0.83[ASN][1000 genomes]
rs10135277	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs10140133	0.81[ASN][1000 genomes]
rs10146008	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146017	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10162508	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1040840	0.86[JPT][hapmap]
rs12436216	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs12586302	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1885151	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2006074	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006075	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415275	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs28589517	0.83[ASN][1000 genomes]
rs2899835	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981285	0.98[ASN][1000 genomes]
rs4982250	0.81[CHB][hapmap]
rs4982255	0.89[ASN][1000 genomes]
rs4982258	0.83[ASN][1000 genomes]
rs4982259	0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4982260	0.83[ASN][1000 genomes]
rs4982261	0.83[ASN][1000 genomes]
rs4982262	0.83[ASN][1000 genomes]
rs55746125	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72666607	0.80[ASN][1000 genomes]
rs72666622	0.81[ASN][1000 genomes]
rs762010	0.91[ASN][1000 genomes]
rs8003074	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9322947	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9322950	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35800000-35815000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:35800600-35814400	Enhancers	Placenta	Placenta
3	chr14:35800800-35812200	Enhancers	Fetal Thymus	thymus
4	chr14:35800800-35813800	Enhancers	Lung	lung
5	chr14:35801000-35810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:35801400-35810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:35802800-35810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:35803000-35810400	Enhancers	Liver	Liver
9	chr14:35804600-35810800	Enhancers	Esophagus	oesophagus
10	chr14:35805800-35821000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:35806000-35810200	Enhancers	Adipose Nuclei	Adipose
12	chr14:35806200-35812400	Enhancers	Ovary	ovary
13	chr14:35806400-35810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:35806400-35810800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:35806600-35810200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:35806800-35810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:35806800-35816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:35806800-35816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:35807000-35810200	Weak transcription	Fetal Kidney	kidney
20	chr14:35807000-35810200	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:35807000-35810200	Enhancers	A549	lung
22	chr14:35807000-35810200	Weak transcription	HUVEC	blood vessel
23	chr14:35807000-35810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:35807000-35810400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:35807000-35810400	Weak transcription	NH-A	brain
26	chr14:35807000-35810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:35807000-35810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:35807000-35810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:35807200-35810200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:35807200-35810400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:35807200-35810400	Weak transcription	Osteobl	bone
32	chr14:35807200-35810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:35807200-35810600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr14:35807400-35810200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:35807400-35810200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:35807400-35810200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:35807400-35810200	Weak transcription	Brain Angular Gyrus	brain
38	chr14:35807400-35810200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:35807400-35810200	Weak transcription	Right Atrium	heart
40	chr14:35807400-35810400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:35807400-35810400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:35807400-35810400	Weak transcription	Psoas Muscle	Psoas
43	chr14:35807400-35810400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr14:35807400-35810400	Weak transcription	NHDF-Ad	bronchial
45	chr14:35807400-35810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:35807400-35810600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:35807400-35810600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:35807400-35810600	Weak transcription	K562	blood
49	chr14:35807400-35816600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:35807600-35810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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