Variant report

Variant	rs6571691
Chromosome Location	chr14:35453212-35453213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35450835-35453495	H1-hESC	embryonic stem cell:	n/a	n/a
2	MBD4	chr14:35449651-35453338	HepG2	liver:	n/a	n/a
3	MAX	chr14:35449789-35453237	HepG2	liver:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
4	POLR2A	chr14:35450058-35453345	HepG2	liver:	n/a	n/a
5	MYBL2	chr14:35449780-35453391	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:35453017-35453589	HepG2	liver:	n/a	n/a
7	MYC	chr14:35453157-35453400	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr14:35450269-35453498	IMR90	lung:	n/a	n/a
9	MYBL2	chr14:35449836-35453399	HepG2	liver:	n/a	n/a
10	MYC	chr14:35453199-35453324	MCF10A-Er-Src	breast:	n/a	n/a
11	GABPA	chr14:35451245-35453297	MCF-7	breast:	n/a	chr14:35451772-35451786 chr14:35452139-35452146 chr14:35451774-35451783 chr14:35451772-35451781 chr14:35451769-35451783 chr14:35451772-35451783
12	HCFC1	chr14:35449820-35453341	Hela-S3	cervix:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
2	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
3	chr14:35452133..35453716-chr14:35873041..35875070,2	K562	blood:
4	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
5	chr14:35022824..35025797-chr14:35452600..35454659,2	MCF-7	breast:
6	chr14:35451886..35454032-chr4:69771560..69773312,2	MCF-7	breast:
7	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
8	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
9	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
10	chr14:35451366..35453471-chr14:35871625..35875238,3	MCF-7	breast:
11	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
12	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
13	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
14	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258704	TF binding region
ENSG00000100906	Chromatin interaction
ENSG00000272626	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130702	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130877	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130911	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10132452	0.96[ASN][1000 genomes]
rs10133628	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135024	0.97[ASN][1000 genomes]
rs10135457	0.96[ASN][1000 genomes]
rs10135654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143040	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10143749	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145490	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147046	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148463	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10149083	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151096	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10151445	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1028447	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12050394	0.84[ASN][1000 genomes]
rs12433712	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434719	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12437158	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586945	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12589238	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590905	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878315	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878685	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878970	0.95[ASN][1000 genomes]
rs12881501	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882728	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12886340	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12887073	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887279	0.96[ASN][1000 genomes]
rs12891283	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12891473	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102982	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1955437	0.94[ASN][1000 genomes]
rs2250579	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273155	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2383691	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2383692	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2383694	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28373866	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28479817	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28627922	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28656938	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34793309	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35523754	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35768136	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759549	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4386037	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981256	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981257	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982231	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4982232	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670220	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57787567	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7144898	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147346	0.96[ASN][1000 genomes]
rs7154181	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158547	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159696	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72474105	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004237	0.95[ASN][1000 genomes]
rs8005641	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006578	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006908	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8009854	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8012308	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015059	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015200	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017611	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018702	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8018761	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8020050	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021502	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9322942	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
2	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv456203	chr14:35311272-35512335	Weak transcription Strong 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	54 gene(s)	inside rSNPs	diseases
4	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	73 gene(s)	inside rSNPs	diseases
7	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6571691	FAM177A1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35449800-35453400	Active TSS	GM12878-XiMat	blood
2	chr14:35449800-35453600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:35449800-35453600	Active TSS	NHLF	lung
4	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35450000-35453400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:35450000-35453600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:35450000-35453600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:35450200-35453400	Active TSS	Right Atrium	heart
9	chr14:35450200-35453600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:35450200-35453600	Active TSS	Colonic Mucosa	Colon
11	chr14:35450200-35453800	Active TSS	K562	blood
12	chr14:35450400-35453400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:35450400-35453400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr14:35450400-35453400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr14:35450400-35453600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:35450400-35453600	Active TSS	Pancreas	Pancrea
17	chr14:35450600-35453400	Active TSS	Ovary	ovary
18	chr14:35450800-35453400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:35451000-35453400	Active TSS	HSMMtube	muscle
20	chr14:35451200-35453400	Active TSS	Brain Germinal Matrix	brain
21	chr14:35452400-35453800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:35452400-35453800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:35452600-35453400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:35452600-35453400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:35452600-35453400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:35452600-35453400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:35452600-35453600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr14:35452600-35453600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:35452600-35453600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:35452600-35453800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr14:35452800-35453400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:35452800-35453400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr14:35452800-35453400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:35452800-35453400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr14:35452800-35453400	Flanking Active TSS	Fetal Brain Male	brain
36	chr14:35452800-35453400	Flanking Active TSS	Fetal Kidney	kidney
37	chr14:35452800-35453400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
38	chr14:35452800-35453400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr14:35452800-35453400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr14:35452800-35453400	Flanking Active TSS	Thymus	Thymus
41	chr14:35452800-35453400	Flanking Active TSS	HUVEC	blood vessel
42	chr14:35452800-35453600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:35452800-35453600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:35452800-35453600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr14:35452800-35453600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:35452800-35453600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:35452800-35453600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:35452800-35453600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr14:35452800-35453600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:35452800-35453600	Flanking Active TSS	Brain Hippocampus Middle	brain

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