Variant report

Variant	rs1028447
Chromosome Location	chr14:35454396-35454397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35454380-35454565	K562	blood:	n/a	n/a
2	CTCF	chr14:35454356-35454509	K562	blood:	n/a	n/a
3	CTCF	chr14:35454300-35454450	HepG2	liver:	n/a	n/a
4	CTCFL	chr14:35454345-35454443	K562	blood:	n/a	n/a
5	CTCF	chr14:35454300-35454450	HA-sp	spinal cord:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35451408..35453567-chr14:35454171..35458229,4	MCF-7	breast:
2	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
3	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
4	chr14:35022824..35025797-chr14:35452600..35454659,2	MCF-7	breast:
5	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
6	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
7	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
8	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258704	TF binding region
ENSG00000092020	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000151327	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	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10130877	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10130911	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10132452	0.94[ASN][1000 genomes]
rs10133628	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10135024	0.95[ASN][1000 genomes]
rs10135457	0.94[ASN][1000 genomes]
rs10135654	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10143040	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10143749	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10145490	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10147046	0.94[ASN][1000 genomes]
rs10148463	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10149083	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10151096	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10151445	0.97[ASN][1000 genomes]
rs12050394	0.82[ASN][1000 genomes]
rs12433712	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12434719	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12437158	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12586945	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589238	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12590905	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12878315	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12878685	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12878970	0.93[ASN][1000 genomes]
rs12881501	0.85[ASN][1000 genomes]
rs12882728	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886340	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12887073	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12887279	0.94[ASN][1000 genomes]
rs12891283	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891473	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17102982	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1955437	0.93[ASN][1000 genomes]
rs2250579	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2273155	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383691	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2383692	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2383694	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28373866	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28479817	0.87[ASN][1000 genomes]
rs28627922	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28656938	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34793309	0.93[ASN][1000 genomes]
rs35523754	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35768136	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3759549	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4386037	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4981256	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4981257	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4982231	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4982232	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs55670220	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57787567	0.93[ASN][1000 genomes]
rs6571691	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7144898	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7147346	0.94[ASN][1000 genomes]
rs7154181	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7158547	0.93[ASN][1000 genomes]
rs7159696	0.95[ASN][1000 genomes]
rs72474105	0.88[ASN][1000 genomes]
rs8004237	0.93[ASN][1000 genomes]
rs8005641	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8006578	0.94[ASN][1000 genomes]
rs8006908	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009854	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8012308	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8015059	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8015200	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8017611	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018702	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018761	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8020050	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8021502	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9322942	0.83[AFR][1000 genomes];0.95[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
rs1028447	SRP54	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:35452800-35454400	Enhancers	Spleen	Spleen
3	chr14:35452800-35454800	Enhancers	Small Intestine	intestine
4	chr14:35452800-35455400	Flanking Active TSS	Dnd41	blood
5	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:35453000-35454400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:35453200-35454600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr14:35453200-35454800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr14:35453200-35454800	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:35453200-35454800	Enhancers	Brain Substantia Nigra	brain
11	chr14:35453200-35454800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr14:35453200-35455000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:35453200-35455000	Enhancers	Fetal Heart	heart
14	chr14:35453200-35455400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:35453200-35455400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:35453200-35455600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:35453200-35467200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
19	chr14:35453400-35454400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:35453400-35454400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr14:35453400-35454400	Enhancers	Left Ventricle	heart
22	chr14:35453400-35454600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:35453400-35454600	Enhancers	Right Atrium	heart
24	chr14:35453400-35454600	Weak transcription	Stomach Mucosa	stomach
25	chr14:35453400-35454600	Enhancers	HUVEC	blood vessel
26	chr14:35453400-35454800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:35453400-35454800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:35453400-35454800	Enhancers	Fetal Brain Male	brain
29	chr14:35453400-35454800	Enhancers	Thymus	Thymus
30	chr14:35453400-35455000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:35453400-35455400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:35453400-35455400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:35453400-35455600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:35453400-35456000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:35453400-35459600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:35453400-35467400	Weak transcription	Placenta	Placenta
37	chr14:35453600-35454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:35453600-35454400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:35453600-35454400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:35453600-35454400	Enhancers	Esophagus	oesophagus
41	chr14:35453600-35454400	Weak transcription	Fetal Brain Female	brain
42	chr14:35453600-35454400	Enhancers	Lung	lung
43	chr14:35453600-35454400	Enhancers	HMEC	breast
44	chr14:35453600-35454600	Enhancers	Brain Angular Gyrus	brain
45	chr14:35453600-35454600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:35453600-35454600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr14:35453600-35454600	Weak transcription	NH-A	brain
48	chr14:35453600-35454800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:35453600-35454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:35453600-35454800	Flanking Active TSS	HepG2	liver

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