Variant report

Variant	rs946057
Chromosome Location	chr14:55877398-55877399
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55875694..55878426-chr14:55879816..55881880,2	MCF-7	breast:
2	chr14:55738462..55740457-chr14:55876208..55878548,3	K562	blood:
3	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000239199	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1009648	0.80[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10138446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34727214	0.83[ASN][1000 genomes]
rs7153619	0.84[ASN][1000 genomes]
rs7156360	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946055	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946056	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv901959	chr14:55853724-55916225	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:55836800-55877800	Weak transcription	Esophagus	oesophagus
3	chr14:55849200-55878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:55854800-55878000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:55856200-55878000	Weak transcription	Spleen	Spleen
6	chr14:55856400-55877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:55860600-55877800	Weak transcription	Lung	lung
8	chr14:55862200-55877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:55862600-55877400	Weak transcription	Fetal Thymus	thymus
10	chr14:55863400-55877600	Weak transcription	Placenta	Placenta
11	chr14:55863600-55877400	Weak transcription	Thymus	Thymus
12	chr14:55867200-55877400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:55868800-55877400	Weak transcription	Right Ventricle	heart
14	chr14:55869000-55877800	Weak transcription	Gastric	stomach
15	chr14:55871400-55877600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:55871600-55877400	Weak transcription	Ovary	ovary
17	chr14:55871600-55877600	Weak transcription	Left Ventricle	heart
18	chr14:55875400-55877600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:55875600-55877600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:55876000-55877400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:55876000-55877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:55876000-55879200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:55876200-55877400	Enhancers	Brain Hippocampus Middle	brain
24	chr14:55876200-55877400	Enhancers	Fetal Brain Male	brain
25	chr14:55876200-55877400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:55876200-55877600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:55876200-55877600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:55876400-55877400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:55876400-55877400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55876400-55877400	Enhancers	Fetal Intestine Small	intestine
31	chr14:55876400-55877600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:55876600-55877400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:55876600-55877400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:55876600-55877400	Weak transcription	Psoas Muscle	Psoas
35	chr14:55876600-55877600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:55876600-55877600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:55876600-55879200	Active TSS	Aorta	Aorta
38	chr14:55876800-55877400	Enhancers	Primary T cells from cord blood	blood
39	chr14:55876800-55877400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:55876800-55877600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:55876800-55877600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:55876800-55877600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:55876800-55877600	Flanking Active TSS	HepG2	liver
44	chr14:55876800-55878000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr14:55876800-55878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:55876800-55879000	Active TSS	Brain Germinal Matrix	brain
47	chr14:55877000-55877400	Active TSS	Colon Smooth Muscle	Colon
48	chr14:55877000-55877400	Enhancers	NHEK	skin
49	chr14:55877000-55877600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:55877000-55877600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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