Variant report

Variant	rs16862843
Chromosome Location	chr1:169926371-169926372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16862850	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862862	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2806392	0.82[ASW][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs28418890	1.00[EUR][1000 genomes]
rs527261	1.00[CHD][hapmap]
rs565626	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs61620667	1.00[EUR][1000 genomes]
rs6671989	1.00[EUR][1000 genomes]
rs6672131	1.00[EUR][1000 genomes]
rs6685386	1.00[EUR][1000 genomes]
rs6691861	1.00[EUR][1000 genomes]
rs6692182	1.00[EUR][1000 genomes]
rs685155	1.00[YRI][hapmap]
rs686519	1.00[YRI][hapmap]
rs7517307	1.00[EUR][1000 genomes]
rs7531115	1.00[EUR][1000 genomes]
rs7531533	1.00[EUR][1000 genomes]
rs7548073	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1007190	chr1:169890542-169929582	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv997360	chr1:169892284-169946436	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
5	nsv1015110	chr1:169892661-169929582	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
7	nsv1010007	chr1:169895282-169946436	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1003588	chr1:169895984-169946436	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv998382	chr1:169899427-169929582	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1011978	chr1:169899427-169946436	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1003803	chr1:169901733-169929582	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1001670	chr1:169901733-169956450	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	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
16	nsv1009843	chr1:169903077-169950341	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1012222	chr1:169903862-169950341	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1006673	chr1:169913597-169946436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	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
20	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
21	nsv1010446	chr1:169917450-169946436	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv1008890	chr1:169917450-169956450	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	nsv947334	chr1:169925547-169930143	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169904000-169929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169904000-169934800	Weak transcription	Fetal Heart	heart
4	chr1:169904000-169949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
6	chr1:169909200-169946000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:169910400-169946200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:169911200-169948800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:169911400-169946200	Weak transcription	Dnd41	blood
10	chr1:169911400-169948600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169911600-169927000	Weak transcription	Fetal Intestine Large	intestine
12	chr1:169911600-169945800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:169911800-169946400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:169911800-169949600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:169911800-169951200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:169911800-169968400	Weak transcription	Psoas Muscle	Psoas
17	chr1:169912000-169946200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:169912000-169953600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:169912000-169966000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:169912000-169968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:169912400-169950400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:169912800-169967200	Weak transcription	NHDF-Ad	bronchial
23	chr1:169913400-169953600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:169913800-169938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:169913800-169968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:169914000-169945800	Weak transcription	Adipose Nuclei	Adipose
27	chr1:169914000-169946200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:169914000-169968400	Weak transcription	Ovary	ovary
29	chr1:169914200-169945800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:169914600-169933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169914600-169961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:169914600-169968000	Weak transcription	Fetal Stomach	stomach
33	chr1:169914800-169946000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
35	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:169915200-169950800	Weak transcription	Fetal Lung	lung
38	chr1:169917200-169950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:169919000-169944800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:169919800-169946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:169920000-169928800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:169921600-169968400	Weak transcription	Fetal Brain Male	brain
43	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:169922200-169968400	Weak transcription	Brain Angular Gyrus	brain
45	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:169923000-169946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:169923200-169938800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:169923600-169932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:169923600-169933200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:169923600-169938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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