Variant report

Variant	rs2267766
Chromosome Location	chr14:78158729-78158730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78158386..78160675-chr14:78164018..78166983,2	MCF-7	breast:
2	chr14:78156716..78160622-chr14:78162116..78165748,3	K562	blood:
3	chr14:78157152..78158928-chr14:78163519..78165919,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258917	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10134425	0.87[AMR][1000 genomes]
rs10136053	0.90[ASN][1000 genomes]
rs10138747	0.81[AMR][1000 genomes]
rs10139492	0.84[ASN][1000 genomes]
rs10143294	0.82[ASN][1000 genomes]
rs10144448	0.82[AMR][1000 genomes]
rs1048147	0.89[ASN][1000 genomes]
rs11159288	0.81[ASN][1000 genomes]
rs11623088	0.80[ASN][1000 genomes]
rs11624101	0.82[ASN][1000 genomes]
rs12879880	0.83[AMR][1000 genomes]
rs12887282	0.83[ASN][1000 genomes]
rs12887313	0.81[AMR][1000 genomes]
rs12887606	0.83[ASN][1000 genomes]
rs12890828	0.81[AMR][1000 genomes]
rs13379065	0.89[ASN][1000 genomes]
rs1477263	0.83[AMR][1000 genomes]
rs17106157	0.89[ASN][1000 genomes]
rs176941	0.89[AMR][1000 genomes]
rs176943	0.85[ASN][1000 genomes]
rs176944	0.85[ASN][1000 genomes]
rs176946	0.85[ASN][1000 genomes]
rs176948	0.89[AMR][1000 genomes]
rs176951	0.85[ASN][1000 genomes]
rs176952	0.85[ASN][1000 genomes]
rs176953	0.81[ASN][1000 genomes]
rs176954	0.89[AMR][1000 genomes]
rs176955	0.85[ASN][1000 genomes]
rs176956	0.89[AMR][1000 genomes]
rs176959	0.87[AMR][1000 genomes]
rs176960	0.85[ASN][1000 genomes]
rs176962	0.83[ASN][1000 genomes]
rs176963	0.87[AMR][1000 genomes]
rs176964	0.87[AMR][1000 genomes]
rs176965	0.86[AMR][1000 genomes]
rs176966	0.80[ASN][1000 genomes]
rs176968	0.87[AMR][1000 genomes]
rs176969	0.87[AMR][1000 genomes]
rs176970	0.87[AMR][1000 genomes]
rs176971	0.83[ASN][1000 genomes]
rs176975	0.87[AMR][1000 genomes]
rs176976	0.87[AMR][1000 genomes]
rs176979	0.83[ASN][1000 genomes]
rs176980	0.83[ASN][1000 genomes]
rs2032781	0.81[ASN][1000 genomes]
rs2080703	0.82[ASN][1000 genomes]
rs2267756	0.82[ASN][1000 genomes]
rs2267758	0.89[ASN][1000 genomes]
rs2267759	0.89[ASN][1000 genomes]
rs2267760	0.89[ASN][1000 genomes]
rs2267761	0.89[ASN][1000 genomes]
rs2267762	0.82[ASN][1000 genomes]
rs2267763	0.82[ASN][1000 genomes]
rs2267764	0.82[ASN][1000 genomes]
rs2267767	0.83[ASN][1000 genomes]
rs2267768	0.81[ASN][1000 genomes]
rs2284233	0.86[AMR][1000 genomes]
rs2284234	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2284235	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2299930	0.83[ASN][1000 genomes]
rs2364584	0.90[ASN][1000 genomes]
rs2544567	0.81[ASN][1000 genomes]
rs28534379	0.83[ASN][1000 genomes]
rs28603114	0.83[ASN][1000 genomes]
rs35204328	0.90[ASN][1000 genomes]
rs3783981	0.82[ASN][1000 genomes]
rs3783982	0.82[ASN][1000 genomes]
rs3783983	0.89[ASN][1000 genomes]
rs4383070	0.83[ASN][1000 genomes]
rs4899670	0.84[ASN][1000 genomes]
rs4899674	0.87[AMR][1000 genomes]
rs4903638	0.87[AMR][1000 genomes]
rs55909252	0.84[ASN][1000 genomes]
rs56017708	0.84[ASN][1000 genomes]
rs56412551	0.89[ASN][1000 genomes]
rs57635466	0.80[ASN][1000 genomes]
rs61993668	0.83[ASN][1000 genomes]
rs6574388	0.90[ASN][1000 genomes]
rs6574391	0.83[ASN][1000 genomes]
rs6574394	0.81[AMR][1000 genomes]
rs6574399	0.84[AMR][1000 genomes]
rs7143926	0.89[AMR][1000 genomes]
rs7145717	0.84[AMR][1000 genomes]
rs7147516	0.90[ASN][1000 genomes]
rs7148126	0.82[ASN][1000 genomes]
rs7151211	0.90[ASN][1000 genomes]
rs7151685	0.87[AMR][1000 genomes]
rs72210300	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72685264	0.90[ASN][1000 genomes]
rs759713	0.84[ASN][1000 genomes]
rs8003691	0.81[ASN][1000 genomes]
rs8003979	0.81[ASN][1000 genomes]
rs8010541	0.87[AMR][1000 genomes]
rs8015645	0.83[ASN][1000 genomes]
rs8016175	0.81[ASN][1000 genomes]
rs8022516	0.87[AMR][1000 genomes]
rs9323649	0.82[ASN][1000 genomes]
rs9323651	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	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	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
5	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
7	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
11	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:78146400-78160000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:78146400-78161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:78148400-78162800	Weak transcription	Aorta	Aorta
17	chr14:78148400-78162800	Weak transcription	Pancreas	Pancrea
18	chr14:78148400-78164400	Weak transcription	Psoas Muscle	Psoas
19	chr14:78148600-78162800	Weak transcription	NHLF	lung
20	chr14:78149000-78160400	Weak transcription	Hela-S3	cervix
21	chr14:78149200-78163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:78149200-78171400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:78149800-78163000	Weak transcription	Stomach Mucosa	stomach
24	chr14:78149800-78164200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:78150200-78163800	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:78150400-78172200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:78152200-78158800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:78152200-78164200	Strong transcription	Liver	Liver
29	chr14:78152200-78164600	Strong transcription	Adipose Nuclei	Adipose
30	chr14:78152400-78171200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:78152800-78165400	Strong transcription	Placenta	Placenta
33	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:78153400-78163000	Weak transcription	Right Ventricle	heart
35	chr14:78153400-78171200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:78154400-78159000	Strong transcription	Fetal Stomach	stomach
39	chr14:78154400-78162600	Weak transcription	HSMMtube	muscle
40	chr14:78154400-78168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
42	chr14:78154600-78159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:78154600-78167200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:78155200-78159000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:78155400-78163600	Strong transcription	HSMM	muscle
46	chr14:78155400-78163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:78155600-78163800	Strong transcription	Fetal Brain Female	brain
48	chr14:78155600-78164000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:78155600-78164800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:78155800-78158800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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