Variant report

Variant	rs1403792
Chromosome Location	chr7:17081890-17081891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10224237	0.88[EUR][1000 genomes]
rs11761269	0.89[EUR][1000 genomes]
rs11770930	0.89[EUR][1000 genomes]
rs13225767	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13226005	0.92[EUR][1000 genomes]
rs13227278	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13229691	0.91[EUR][1000 genomes]
rs13238728	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13239462	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13240131	0.89[EUR][1000 genomes]
rs13240388	0.89[EUR][1000 genomes]
rs13243664	0.89[EUR][1000 genomes]
rs13244684	0.89[EUR][1000 genomes]
rs1721050	0.90[ASN][1000 genomes]
rs2389730	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2564395	0.90[ASN][1000 genomes]
rs34041066	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34096229	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34879990	0.89[EUR][1000 genomes]
rs35227343	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35610731	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36166325	0.83[EUR][1000 genomes]
rs71540783	0.92[EUR][1000 genomes]
rs71540786	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs720002	0.90[ASN][1000 genomes]
rs763522	0.89[EUR][1000 genomes]
rs7786255	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs847416	0.90[ASN][1000 genomes]
rs847418	0.90[ASN][1000 genomes]
rs847425	0.90[ASN][1000 genomes]
rs847427	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs847431	0.90[ASN][1000 genomes]
rs847432	0.90[ASN][1000 genomes]
rs847434	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv887764	chr7:16839835-17218800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
5	nsv887765	chr7:16839835-17750811	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1017413	chr7:16854300-17125005	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv538749	chr7:16854300-17125005	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1015831	chr7:16854300-17732227	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv538750	chr7:16854300-17732227	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv870171	chr7:16872876-17188633	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv529874	chr7:16877677-17703617	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv532093	chr7:16877677-17712291	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv1024829	chr7:16900137-17645026	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv606340	chr7:16908545-17334899	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1023794	chr7:16913789-17416093	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
16	nsv606341	chr7:16915528-17405718	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
17	nsv464398	chr7:16915528-17414784	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv606342	chr7:16915528-17414784	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv1028248	chr7:16918221-17409752	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
20	nsv1019491	chr7:16925518-17397734	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
21	nsv1030274	chr7:16933440-17375962	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
22	nsv1018497	chr7:16933440-17405859	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
23	nsv1024472	chr7:16933440-17412361	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
24	nsv887773	chr7:16946486-17160612	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv887774	chr7:16946486-17644213	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
26	nsv887775	chr7:16947921-17663745	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
27	nsv949237	chr7:16959444-17635119	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
28	nsv1034924	chr7:16964658-17415044	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
29	nsv538751	chr7:16964658-17415044	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
30	nsv916338	chr7:16964674-17373696	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
31	nsv1023604	chr7:16964718-17732630	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
32	nsv538752	chr7:16964718-17732630	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
33	nsv887776	chr7:17004301-17160612	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	esv2758106	chr7:17010053-17531479	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
35	esv2759515	chr7:17010053-17531479	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
36	nsv433034	chr7:17021242-17135544	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
37	esv2764001	chr7:17048810-17409764	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
38	nsv1018747	chr7:17074137-17732771	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
39	nsv538753	chr7:17074137-17732771	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
40	nsv532094	chr7:17074337-17584295	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
41	nsv1032995	chr7:17074776-17247932	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17073200-17084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:17077200-17084600	Enhancers	Hela-S3	cervix
3	chr7:17077600-17085200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:17077800-17083200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:17078000-17082200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:17078000-17083000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:17078400-17083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:17079200-17082000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:17079200-17082800	Enhancers	Osteobl	bone
10	chr7:17079400-17082600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:17079400-17084200	Weak transcription	Placenta	Placenta
12	chr7:17079800-17082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:17079800-17082600	Enhancers	Fetal Lung	lung
14	chr7:17079800-17082600	Enhancers	NHDF-Ad	bronchial
15	chr7:17079800-17083000	Enhancers	Fetal Brain Male	brain
16	chr7:17080200-17082600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:17080200-17083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:17080400-17082600	Enhancers	NHLF	lung
19	chr7:17080400-17083000	Enhancers	Fetal Brain Female	brain
20	chr7:17080400-17083200	Enhancers	Dnd41	blood
21	chr7:17080400-17083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:17080400-17084400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:17080400-17085200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:17080800-17082600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:17080800-17082800	Enhancers	NH-A	brain
26	chr7:17080800-17083000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:17080800-17083000	Enhancers	HMEC	breast
28	chr7:17080800-17083200	Enhancers	NHEK	skin
29	chr7:17080800-17084800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:17081000-17082200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:17081000-17082800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:17081000-17082800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:17081000-17083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:17081000-17083000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:17081000-17083000	Enhancers	Adipose Nuclei	Adipose
36	chr7:17081000-17083200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:17081000-17085000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:17081200-17082000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:17081200-17082000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:17081200-17082200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:17081200-17082400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:17081200-17082400	Flanking Active TSS	A549	lung
43	chr7:17081200-17082600	Weak transcription	HSMMtube	muscle
44	chr7:17081200-17083000	Enhancers	HepG2	liver
45	chr7:17081200-17084000	Weak transcription	K562	blood
46	chr7:17081400-17082000	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:17081400-17082200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:17081400-17082600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:17081400-17082600	Weak transcription	Small Intestine	intestine
50	chr7:17081400-17082800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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