Variant report

Variant	rs2799517
Chromosome Location	chr1:92313391-92313392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92309780..92313855-chr1:92314421..92317529,4	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1032255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10874980	0.85[ASN][1000 genomes]
rs11165578	0.84[ASN][1000 genomes]
rs11799400	0.84[EUR][1000 genomes]
rs12027931	0.84[EUR][1000 genomes]
rs1352438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488692	0.83[AMR][1000 genomes]
rs1805109	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805110	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1906586	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2046737	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2087300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2265863	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391070	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2450926	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2450927	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489169	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2489170	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489171	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489176	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2489178	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2489184	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489185	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489186	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2489189	0.83[AMR][1000 genomes]
rs2489192	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634019	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634020	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2634022	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634023	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634024	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634025	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634026	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634027	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634028	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634029	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634030	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2634034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2634036	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799514	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799515	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799521	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799522	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799523	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799524	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799525	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799539	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810903	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs284141	0.84[EUR][1000 genomes]
rs284146	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284148	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284150	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284151	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284156	0.83[ASN][1000 genomes]
rs284157	0.83[ASN][1000 genomes]
rs284160	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284161	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284162	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284164	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103332	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3103333	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs449960	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717923	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7550856	0.84[EUR][1000 genomes]
rs901913	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901914	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901915	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901917	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92296400-92335800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:92297200-92313600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:92298200-92314600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:92300800-92329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92306000-92314800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:92308000-92313600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:92308200-92317400	Weak transcription	Lung	lung
8	chr1:92308600-92316400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:92309800-92313400	Weak transcription	Esophagus	oesophagus
10	chr1:92310000-92315000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:92310200-92313600	Enhancers	NHDF-Ad	bronchial
12	chr1:92310200-92316000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:92310400-92313400	Enhancers	Ovary	ovary
14	chr1:92310400-92313800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:92310400-92313800	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:92310800-92315800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:92311000-92316000	Weak transcription	Aorta	Aorta
18	chr1:92311600-92313600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:92311800-92316400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:92312000-92313600	Enhancers	Liver	Liver
21	chr1:92312000-92313800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:92312000-92314000	Enhancers	Fetal Heart	heart
23	chr1:92312000-92314000	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:92312000-92314800	Weak transcription	Spleen	Spleen
25	chr1:92312000-92315400	Enhancers	HepG2	liver
26	chr1:92312000-92316000	Weak transcription	HUVEC	blood vessel
27	chr1:92312000-92316400	Weak transcription	Fetal Kidney	kidney
28	chr1:92312000-92316600	Weak transcription	HSMM	muscle
29	chr1:92312000-92316800	Weak transcription	NH-A	brain
30	chr1:92312000-92316800	Weak transcription	NHEK	skin
31	chr1:92312000-92317000	Weak transcription	Gastric	stomach
32	chr1:92312000-92329800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:92312000-92337200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:92312200-92313400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:92312200-92313400	Weak transcription	Right Atrium	heart
36	chr1:92312200-92313800	Enhancers	Hela-S3	cervix
37	chr1:92312200-92316000	Weak transcription	Colonic Mucosa	Colon
38	chr1:92312200-92316200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:92312200-92316200	Weak transcription	Stomach Mucosa	stomach
40	chr1:92312200-92316400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:92312200-92316600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:92312200-92316600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:92312200-92316600	Weak transcription	K562	blood
44	chr1:92312200-92316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:92312200-92316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:92312200-92317000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:92312200-92317000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:92312400-92316400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:92312400-92316400	Weak transcription	Osteobl	bone
50	chr1:92312600-92313600	Weak transcription	Small Intestine	intestine

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