Variant report

Variant	rs8035954
Chromosome Location	chr15:34519563-34519564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:34519052-34520845	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:34519528-34520138	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:34516218..34520145-chr15:34531781..34533965,3	K562	blood:
2	chr15:34516899..34519877-chr15:34627913..34631706,5	K562	blood:
3	chr15:34516899..34519877-chr15:34629611..34631706,2	K562	blood:
4	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
5	chr15:34517046..34518726-chr15:34519236..34520864,2	K562	blood:
6	chr15:34515788..34518726-chr15:34518893..34520736,3	K562	blood:
7	chr15:34519148..34521644-chr15:34659451..34661317,2	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
ENSG00000176454	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs104017	0.85[GIH][hapmap]
rs10851952	0.85[JPT][hapmap]
rs10851964	0.95[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1133154	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs11631981	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11635964	0.85[JPT][hapmap]
rs12050753	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs12437551	0.85[JPT][hapmap]
rs12591315	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16958835	0.82[CHD][hapmap]
rs16958878	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs17236763	0.89[ASN][1000 genomes]
rs17236777	1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs17236784	1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs17236798	0.87[ASN][1000 genomes]
rs17236819	0.87[ASN][1000 genomes]
rs17817800	0.81[ASN][1000 genomes]
rs17817806	0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs2244040	0.95[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290940	0.97[CHD][hapmap];0.86[ASN][1000 genomes]
rs2290941	0.97[CHD][hapmap];0.86[ASN][1000 genomes]
rs2290942	0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs347818	0.95[GIH][hapmap]
rs347830	0.84[GIH][hapmap]
rs4238572	0.84[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs436552	0.95[GIH][hapmap]
rs4530104	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577050	0.95[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4780231	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4780232	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4780233	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780234	0.81[ASN][1000 genomes]
rs56761496	0.84[ASN][1000 genomes]
rs57494441	0.88[ASN][1000 genomes]
rs59023791	0.86[ASN][1000 genomes]
rs59091709	0.85[ASN][1000 genomes]
rs59209438	0.82[ASN][1000 genomes]
rs59712831	0.88[ASN][1000 genomes]
rs60165224	0.87[ASN][1000 genomes]
rs60604568	0.87[ASN][1000 genomes]
rs61549125	0.84[ASN][1000 genomes]
rs6495646	0.95[CEU][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7168761	0.88[CHD][hapmap]
rs7178002	0.85[CHD][hapmap]
rs7180200	0.84[ASN][1000 genomes]
rs73386033	0.86[ASN][1000 genomes]
rs73386037	0.86[ASN][1000 genomes]
rs73386038	0.86[ASN][1000 genomes]
rs73388003	0.88[ASN][1000 genomes]
rs73388020	0.81[ASN][1000 genomes]
rs73388046	0.81[ASN][1000 genomes]
rs8027499	0.85[JPT][hapmap]
rs8036468	0.82[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap]
rs8040071	0.85[CHD][hapmap]
rs8043216	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8035954	KATNBL1	cis	Esophagus Muscularis	GTEx
rs8035954	NOP10	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34517800-34531200	Weak transcription	Small Intestine	intestine
2	chr15:34518000-34519600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:34518000-34519600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:34518000-34519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:34518000-34520000	Weak transcription	Esophagus	oesophagus
6	chr15:34518000-34520800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:34518000-34528000	Weak transcription	Aorta	Aorta
8	chr15:34518000-34532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
10	chr15:34518200-34519600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:34518200-34519600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:34518200-34519600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:34518200-34519600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:34518200-34519600	Weak transcription	Fetal Kidney	kidney
15	chr15:34518200-34519600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:34518200-34519600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:34518200-34519600	Weak transcription	HSMMtube	muscle
18	chr15:34518200-34519800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:34518200-34519800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:34518200-34519800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:34518200-34520200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr15:34518200-34520400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:34518200-34521600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:34518200-34521800	Weak transcription	Colonic Mucosa	Colon
25	chr15:34518200-34525600	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:34518200-34528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:34518400-34519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:34518400-34519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:34518400-34519600	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:34518400-34519600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:34518400-34519600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:34518400-34519600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:34518400-34519600	Weak transcription	Fetal Heart	heart
34	chr15:34518400-34519600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:34518400-34519600	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:34518400-34519600	Weak transcription	Psoas Muscle	Psoas
37	chr15:34518400-34519600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:34518400-34519600	Weak transcription	Spleen	Spleen
39	chr15:34518400-34519600	Weak transcription	HMEC	breast
40	chr15:34518400-34519600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:34518400-34519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:34518400-34519800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:34518400-34519800	Weak transcription	Brain Angular Gyrus	brain
44	chr15:34518400-34519800	Weak transcription	Fetal Thymus	thymus
45	chr15:34518400-34519800	Weak transcription	Left Ventricle	heart
46	chr15:34518400-34519800	Weak transcription	Thymus	Thymus
47	chr15:34518400-34519800	Weak transcription	GM12878-XiMat	blood
48	chr15:34518400-34520200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:34518400-34520400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:34518400-34520400	Weak transcription	Lung	lung

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