Variant report

Variant	rs16862894
Chromosome Location	chr1:169956466-169956467
allele	C/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	MAFK	chr1:169956197-169956473	HepG2	liver:	n/a	chr1:169956321-169956332 chr1:169956321-169956337 chr1:169956320-169956334 chr1:169956322-169956333 chr1:169956321-169956332 chr1:169956321-169956336

Variant related genes	Relation type
MRPS10P1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16862760	1.00[YRI][hapmap]
rs16862766	1.00[YRI][hapmap]
rs16862857	1.00[YRI][hapmap]
rs16862864	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862898	1.00[AMR][1000 genomes]
rs16862900	1.00[AMR][1000 genomes]
rs16862909	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862913	1.00[AMR][1000 genomes]
rs16862917	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862922	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862938	1.00[AMR][1000 genomes]
rs16862959	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862967	1.00[AMR][1000 genomes]
rs16862971	1.00[AMR][1000 genomes]
rs16862987	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862993	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16862995	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16863007	1.00[AMR][1000 genomes]
rs2050650	1.00[AMR][1000 genomes]
rs2474698	0.81[AFR][1000 genomes]
rs36022648	1.00[AMR][1000 genomes]
rs4431903	1.00[AMR][1000 genomes]
rs520990	0.81[AFR][1000 genomes]
rs545954	0.81[AFR][1000 genomes]
rs571806	0.81[AFR][1000 genomes]
rs59446257	1.00[AMR][1000 genomes]
rs595984	0.81[AFR][1000 genomes]
rs60825089	1.00[AMR][1000 genomes]
rs60843604	1.00[AMR][1000 genomes]
rs60933865	1.00[AMR][1000 genomes]
rs680269	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1013271	chr1:169892661-169960549	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997289	chr1:169899427-169960549	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1012520	chr1:169899427-169969444	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1004999	chr1:169901733-169960549	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005982	chr1:169913597-169958219	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1001013	chr1:169913597-169960549	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1009789	chr1:169917450-169960549	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1010370	chr1:169917450-169980951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1012534	chr1:169924759-169965106	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
3	chr1:169912000-169966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:169912800-169967200	Weak transcription	NHDF-Ad	bronchial
6	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:169914000-169968400	Weak transcription	Ovary	ovary
8	chr1:169914600-169961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:169914600-169968000	Weak transcription	Fetal Stomach	stomach
10	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
11	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:169921600-169968400	Weak transcription	Fetal Brain Male	brain
14	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:169922200-169968400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:169930400-169968400	Weak transcription	Small Intestine	intestine
18	chr1:169935600-169968400	Weak transcription	Fetal Kidney	kidney
19	chr1:169937600-169956600	Weak transcription	Pancreas	Pancrea
20	chr1:169938000-169968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:169938200-169965400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:169938800-169962200	Weak transcription	Esophagus	oesophagus
23	chr1:169939000-169968400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:169939200-169967400	Weak transcription	Osteobl	bone
25	chr1:169944800-169968000	Weak transcription	Brain Substantia Nigra	brain
26	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
27	chr1:169945400-169968400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
29	chr1:169946400-169968400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:169947000-169968000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:169947200-169968000	Weak transcription	Brain Anterior Caudate	brain
32	chr1:169948200-169959800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:169948800-169968200	Weak transcription	HSMMtube	muscle
34	chr1:169949400-169968000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:169951200-169967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:169951600-169965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:169951800-169961800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:169951800-169965800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:169951800-169975000	Weak transcription	Dnd41	blood
41	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:169952000-169965600	Weak transcription	Primary T cells from cord blood	blood
44	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:169952200-169958000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:169952400-169960200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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