Variant report

Variant	rs4540996
Chromosome Location	chr14:78164926-78164927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78164522..78168276-chr14:78172771..78175451,7	MCF-7	breast:
2	chr14:78157152..78158928-chr14:78163519..78165919,2	MCF-7	breast:
3	chr14:78081368..78083282-chr14:78164102..78166516,2	MCF-7	breast:
4	chr14:78158386..78160675-chr14:78164018..78166983,2	MCF-7	breast:
5	chr14:78164136..78165853-chr14:78175580..78177110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1076496	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12432030	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587155	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587584	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587825	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12590320	0.82[EUR][1000 genomes]
rs12880840	0.80[ASN][1000 genomes]
rs12881898	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12886631	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891621	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12892669	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267755	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267757	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2270443	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299931	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35261431	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35657726	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899676	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903624	0.92[AMR][1000 genomes]
rs4903644	0.80[ASN][1000 genomes]
rs67408612	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145979	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72688831	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8003389	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003715	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:78152800-78165400	Strong transcription	Placenta	Placenta
10	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
16	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:78155800-78165600	Strong transcription	Primary T cells from cord blood	blood
18	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:78156200-78165000	Strong transcription	Primary B cells from cord blood	blood
20	chr14:78156200-78165200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:78156200-78165800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:78156600-78171800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:78156800-78170000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:78156800-78171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:78156800-78172400	Strong transcription	Dnd41	blood
27	chr14:78157800-78165000	Strong transcription	Brain Germinal Matrix	brain
28	chr14:78157800-78166200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:78158600-78172800	Weak transcription	NHDF-Ad	bronchial
30	chr14:78159000-78167800	Weak transcription	Gastric	stomach
31	chr14:78159600-78165200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:78160600-78166600	Weak transcription	HUVEC	blood vessel
33	chr14:78161800-78165400	Weak transcription	Fetal Heart	heart
34	chr14:78162000-78169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:78162600-78168600	Strong transcription	GM12878-XiMat	blood
36	chr14:78162600-78171400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:78162800-78165000	Strong transcription	Colonic Mucosa	Colon
38	chr14:78163400-78169000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:78163600-78165400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:78163600-78165400	Weak transcription	K562	blood
41	chr14:78163600-78168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:78163600-78170200	Weak transcription	Fetal Kidney	kidney
43	chr14:78163600-78170600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:78163800-78165000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:78163800-78165200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:78163800-78165800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:78163800-78166400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:78163800-78166400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr14:78163800-78166600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:78163800-78166600	Weak transcription	Brain Inferior Temporal Lobe	brain

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