Variant report

Variant	rs176944
Chromosome Location	chr14:78176211-78176212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr14:78173414-78177367	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:78176043-78176507	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr14:78172988-78176324	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77934304..77936307-chr14:78175272..78177718,2	K562	blood:
2	chr14:77922378..77925268-chr14:78174504..78177181,3	MCF-7	breast:
3	chr14:78173677..78176352-chr14:78201271..78203886,2	MCF-7	breast:
4	chr14:77934807..77937271-chr14:78175752..78177718,2	K562	blood:
5	chr14:78174606..78176919-chr14:78226054..78227853,2	MCF-7	breast:
6	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:
7	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:

No data

Variant related genes	Relation type
SLIRP	TF binding region
ALKBH1	TF binding region
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000100603	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1006038	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1006039	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1006040	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1008988	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10136053	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142722	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10148373	0.88[EUR][1000 genomes]
rs10149619	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048147	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11159288	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623088	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11624101	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628888	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11847025	0.80[EUR][1000 genomes]
rs12435761	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12887282	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890375	0.82[ASN][1000 genomes]
rs13379065	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477259	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1477260	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1477261	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1477262	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1549119	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106157	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176943	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176953	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176955	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176957	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs176960	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176962	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176966	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176971	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176973	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176979	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176980	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978416	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1984925	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032781	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2112136	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267758	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267759	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267760	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2267761	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267766	0.85[ASN][1000 genomes]
rs2267767	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299930	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2364584	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2544567	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28534379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28603114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35204328	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759728	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783980	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783983	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4383070	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4632066	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903643	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55909252	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56017708	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56412551	0.92[ASN][1000 genomes]
rs57635466	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59848135	0.84[EUR][1000 genomes]
rs61992862	0.81[ASN][1000 genomes]
rs61992866	0.82[ASN][1000 genomes]
rs61993668	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574388	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574391	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574402	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142390	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147516	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151211	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158826	0.80[ASN][1000 genomes]
rs717683	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72210300	0.87[ASN][1000 genomes]
rs72685264	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759808	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8003691	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003979	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8011337	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014635	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016175	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016447	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018971	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788540	0.85[EUR][1000 genomes]
rs9788570	0.80[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78172800-78176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:78172800-78176400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:78172800-78176600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:78173400-78176400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:78173400-78176800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:78175000-78176400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr14:78175000-78176400	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr14:78175000-78176400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr14:78175000-78176400	Flanking Active TSS	Dnd41	blood
10	chr14:78175000-78176600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr14:78175000-78176800	Enhancers	Spleen	Spleen
12	chr14:78175200-78176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:78175200-78177600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:78175400-78176400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:78175400-78176400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr14:78175400-78176400	Weak transcription	Fetal Thymus	thymus
17	chr14:78175400-78176400	Flanking Active TSS	Hela-S3	cervix
18	chr14:78175400-78176400	Flanking Active TSS	NHEK	skin
19	chr14:78175400-78176600	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:78175400-78176600	Weak transcription	Lung	lung
21	chr14:78175400-78176600	Enhancers	Thymus	Thymus
22	chr14:78175400-78176800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:78175400-78176800	Weak transcription	Placenta	Placenta
24	chr14:78175400-78177000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:78175400-78177000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr14:78175400-78177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:78175400-78177600	Weak transcription	Esophagus	oesophagus
28	chr14:78175400-78177600	Weak transcription	Left Ventricle	heart
29	chr14:78175400-78180400	Weak transcription	Gastric	stomach
30	chr14:78175600-78176400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr14:78175600-78176400	Enhancers	Adipose Nuclei	Adipose
32	chr14:78175600-78176400	Enhancers	Colon Smooth Muscle	Colon
33	chr14:78175600-78176400	Transcr. at gene 5' and 3'	K562	blood
34	chr14:78175600-78176600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:78175600-78176600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:78175600-78176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:78175600-78176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:78175600-78176800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:78175600-78176800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr14:78175600-78176800	Enhancers	Brain Angular Gyrus	brain
41	chr14:78175600-78177600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:78175600-78180400	Weak transcription	Aorta	Aorta
43	chr14:78175600-78182200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:78175800-78176400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:78175800-78176400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:78175800-78176400	Enhancers	Fetal Kidney	kidney
47	chr14:78175800-78176400	Flanking Active TSS	A549	lung
48	chr14:78175800-78176400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:78175800-78176600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr14:78175800-78176600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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