Variant report

Variant	rs17092541
Chromosome Location	chr1:72745782-72745783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10159193	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1084442	1.00[AMR][1000 genomes]
rs12239998	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13373981	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1599333	1.00[AMR][1000 genomes]
rs1664370	1.00[AMR][1000 genomes]
rs17092521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092660	1.00[AMR][1000 genomes]
rs17131762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2199337	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590946	1.00[AMR][1000 genomes]
rs2613472	1.00[AMR][1000 genomes]
rs2613474	1.00[AMR][1000 genomes]
rs2815769	1.00[AMR][1000 genomes]
rs2815770	1.00[AMR][1000 genomes]
rs28544516	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs290694	1.00[AMR][1000 genomes]
rs290699	1.00[AMR][1000 genomes]
rs290700	1.00[AMR][1000 genomes]
rs482335	1.00[AMR][1000 genomes]
rs511331	1.00[AMR][1000 genomes]
rs727623	1.00[AMR][1000 genomes]
rs782217	1.00[AMR][1000 genomes]
rs782220	1.00[AMR][1000 genomes]
rs782241	1.00[AMR][1000 genomes]
rs782247	1.00[AMR][1000 genomes]
rs782248	1.00[AMR][1000 genomes]
rs782249	1.00[AMR][1000 genomes]
rs782250	1.00[AMR][1000 genomes]
rs782251	1.00[AMR][1000 genomes]
rs782253	1.00[AMR][1000 genomes]
rs782254	1.00[AMR][1000 genomes]
rs782255	1.00[AMR][1000 genomes]
rs782256	1.00[AMR][1000 genomes]
rs782258	1.00[AMR][1000 genomes]
rs796699	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1013250	chr1:72603540-72762582	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830192	chr1:72616562-72806118	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1014832	chr1:72642420-72823477	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv534997	chr1:72642420-72823477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1835472	chr1:72720026-72820015	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1008754	chr1:72733738-72763358	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	nsv1376	chr1:72734578-72823386	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv254	chr1:72734991-72823194	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1826553	chr1:72738721-72763358	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv1002724	chr1:72738857-72763358	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	nsv1013213	chr1:72739953-72802492	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1014214	chr1:72740734-72808756	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1010247	chr1:72740734-72809419	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1002360	chr1:72740734-72809830	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1007840	chr1:72740734-72810926	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv998364	chr1:72740734-72811136	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1007101	chr1:72740734-72812440	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1011285	chr1:72740734-72818878	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv2757734	chr1:72742396-72886813	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv2758939	chr1:72742396-72886813	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3491557	chr1:72742853-72851634	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3491558	chr1:72742853-72851634	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72738000-72745800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:72742800-72745800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:72743000-72745800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:72743600-72745800	Enhancers	Dnd41	blood
5	chr1:72743800-72751600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:72744200-72745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:72744200-72746000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:72744400-72745800	Weak transcription	NHDF-Ad	bronchial
9	chr1:72744400-72746400	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:72744600-72745800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:72744800-72746000	Enhancers	HSMM	muscle
12	chr1:72745000-72745800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:72745000-72745800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:72745000-72745800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:72745000-72745800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:72745000-72745800	Weak transcription	NHLF	lung
17	chr1:72745000-72746200	Active TSS	Fetal Brain Female	brain
18	chr1:72745000-72746800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:72745000-72750800	Active TSS	Stomach Smooth Muscle	stomach
20	chr1:72745000-72751200	Active TSS	Brain Angular Gyrus	brain
21	chr1:72745000-72751600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:72745200-72745800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:72745200-72745800	Weak transcription	Brain Substantia Nigra	brain
24	chr1:72745200-72746400	Weak transcription	Fetal Brain Male	brain
25	chr1:72745200-72751400	Active TSS	Right Atrium	heart
26	chr1:72745400-72747200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:72745400-72747800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:72745400-72747800	Flanking Active TSS	HUVEC	blood vessel
29	chr1:72745600-72745800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:72745600-72745800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:72745600-72747200	Flanking Active TSS	Osteobl	bone

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