Variant report

Variant	rs7143926
Chromosome Location	chr14:78171227-78171228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr14:78171079-78171451	HepG2	liver:	n/a	chr14:78171347-78171355 chr14:78171279-78171288
2	FOS	chr14:78171099-78171407	MCF10A-Er-Src	breast:	n/a	chr14:78171347-78171355 chr14:78171279-78171288
3	JUN	chr14:78171158-78171424	HepG2	liver:	n/a	chr14:78171347-78171355 chr14:78171278-78171291 chr14:78171279-78171288

No.	Distal block	Cell Line	Cell type
1	chr14:78170877..78172859-chr14:78173007..78174927,2	K562	blood:
2	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:
3	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:

Variant related genes	Relation type
SLIRP	TF binding region
ALKBH1	TF binding region
ENSG00000100601	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1006038	0.90[CHB][hapmap]
rs1006039	0.91[CHB][hapmap]
rs1006040	0.90[CHB][hapmap]
rs1008988	0.95[CHB][hapmap]
rs10134425	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138747	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10139492	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10142722	0.90[CHB][hapmap]
rs10143249	0.89[ASN][1000 genomes]
rs10143294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10144448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146255	0.89[ASN][1000 genomes]
rs1048147	0.90[CHB][hapmap]
rs10483885	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs114763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11621719	0.85[ASN][1000 genomes]
rs11622761	0.85[ASN][1000 genomes]
rs11624118	0.85[ASN][1000 genomes]
rs11628888	0.85[CHB][hapmap]
rs11846215	0.82[ASN][1000 genomes]
rs12879880	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12885306	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12887313	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12890728	0.85[CHB][hapmap]
rs12890828	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1477262	0.90[CHB][hapmap]
rs1477263	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1477264	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17106157	0.91[CHB][hapmap]
rs176941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176943	0.90[CHB][hapmap]
rs176946	0.90[CHB][hapmap]
rs176947	0.93[ASN][1000 genomes]
rs176948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176951	0.91[CHB][hapmap]
rs176954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176955	0.90[CHB][hapmap]
rs176956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176961	0.97[ASN][1000 genomes]
rs176963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176964	0.91[CHB][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176968	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176969	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176970	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176972	0.96[ASN][1000 genomes]
rs176975	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176976	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176977	0.93[ASN][1000 genomes]
rs176980	0.90[CHB][hapmap]
rs2080703	0.92[ASN][1000 genomes]
rs2111831	0.81[ASN][1000 genomes]
rs2267756	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267759	0.91[CHB][hapmap]
rs2267760	0.90[CHB][hapmap]
rs2267761	0.91[CHB][hapmap]
rs2267762	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2267763	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267764	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267766	0.89[AMR][1000 genomes]
rs2277917	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2284233	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299930	0.90[CHB][hapmap]
rs3759728	0.90[CHB][hapmap]
rs3783980	0.90[CHB][hapmap]
rs3783981	0.92[ASN][1000 genomes]
rs3783982	0.92[ASN][1000 genomes]
rs4632066	0.90[CHB][hapmap]
rs4641655	0.89[ASN][1000 genomes]
rs4899670	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4899673	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs4899674	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903638	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61992864	0.80[ASN][1000 genomes]
rs61992867	0.83[ASN][1000 genomes]
rs61992868	0.83[ASN][1000 genomes]
rs6574392	0.93[ASN][1000 genomes]
rs6574394	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6574404	0.86[CHB][hapmap]
rs7142390	0.91[CHB][hapmap]
rs7145717	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148078	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7148126	0.92[ASN][1000 genomes]
rs7150531	0.87[ASN][1000 genomes]
rs7151685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154571	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7159310	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7160355	0.92[ASN][1000 genomes]
rs717682	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72210300	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs759713	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs8003691	0.90[CHB][hapmap]
rs8010541	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011337	0.90[CHB][hapmap]
rs8015645	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8016447	0.90[CHB][hapmap]
rs8022516	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323649	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9323650	0.90[CHB][hapmap]
rs9323651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	chr14:78152600-78172200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:78152800-78171400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:78153400-78171400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr14:78153400-78172000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
12	chr14:78156000-78171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:78156200-78172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:78156600-78171800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:78156800-78171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:78156800-78172400	Strong transcription	Dnd41	blood
17	chr14:78158600-78172800	Weak transcription	NHDF-Ad	bronchial
18	chr14:78162600-78171400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:78163800-78172600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:78163800-78172600	Weak transcription	HMEC	breast
21	chr14:78163800-78173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:78163800-78173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:78163800-78173400	Weak transcription	Right Ventricle	heart
24	chr14:78164000-78173000	Weak transcription	HSMMtube	muscle
25	chr14:78164000-78173400	Weak transcription	Aorta	Aorta
26	chr14:78165800-78172600	Weak transcription	Fetal Heart	heart
27	chr14:78166400-78171800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:78166400-78172200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr14:78166400-78172800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:78166600-78171400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr14:78166800-78171600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:78166800-78171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:78166800-78171600	Strong transcription	Fetal Intestine Small	intestine
34	chr14:78167000-78171400	Strong transcription	Liver	Liver
35	chr14:78167000-78171800	Strong transcription	Fetal Intestine Large	intestine
36	chr14:78167000-78171800	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:78167000-78172000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:78167000-78172200	Strong transcription	Fetal Brain Female	brain
39	chr14:78167000-78172200	Strong transcription	Fetal Stomach	stomach
40	chr14:78167200-78171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:78167200-78171400	Strong transcription	Placenta	Placenta
42	chr14:78167200-78171600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:78167200-78171600	Strong transcription	Fetal Thymus	thymus
44	chr14:78167200-78171600	Strong transcription	Ovary	ovary
45	chr14:78167200-78171600	Strong transcription	Thymus	Thymus
46	chr14:78167200-78172200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:78167400-78171600	Strong transcription	Adipose Nuclei	Adipose
48	chr14:78167400-78171800	Strong transcription	Left Ventricle	heart
49	chr14:78167400-78172000	Strong transcription	Brain Anterior Caudate	brain
50	chr14:78167600-78171600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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