Variant report

Variant	rs7516759
Chromosome Location	chr1:92347991-92347992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92346372..92348538-chr1:92370919..92373851,2	K562	blood:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11466552	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17886020	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2799519	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799520	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55813648	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6604065	0.85[AMR][1000 genomes]
rs6604066	0.85[AMR][1000 genomes]
rs66687439	0.85[AMR][1000 genomes]
rs6674287	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6696315	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67510747	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67577913	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716472	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7516778	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525713	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7537629	0.85[AMR][1000 genomes]
rs877277	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs883872	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs883873	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92338400-92348600	Weak transcription	Right Atrium	heart
2	chr1:92338600-92348800	Weak transcription	Stomach Mucosa	stomach
3	chr1:92338600-92349600	Weak transcription	Pancreas	Pancrea
4	chr1:92338600-92350000	Weak transcription	Esophagus	oesophagus
5	chr1:92338600-92350000	Weak transcription	Left Ventricle	heart
6	chr1:92338800-92350000	Weak transcription	K562	blood
7	chr1:92340000-92349200	Weak transcription	Lung	lung
8	chr1:92340600-92348400	Enhancers	Adipose Nuclei	Adipose
9	chr1:92341800-92348600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:92342000-92348800	Weak transcription	Right Ventricle	heart
11	chr1:92342200-92348600	Weak transcription	NHLF	lung
12	chr1:92342400-92348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:92342800-92348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:92343400-92348800	Weak transcription	Liver	Liver
15	chr1:92343800-92348400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:92343800-92348800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:92344000-92348600	Weak transcription	Osteobl	bone
18	chr1:92344200-92348800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:92344200-92349000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:92344400-92348800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:92344600-92348600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:92344600-92349200	Weak transcription	NHEK	skin
23	chr1:92344600-92349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:92344600-92349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:92344800-92349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:92345000-92348600	Weak transcription	A549	lung
27	chr1:92345200-92348400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:92345200-92349000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:92345200-92349200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:92345600-92348400	Weak transcription	Fetal Heart	heart
31	chr1:92345600-92348400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:92345600-92349200	Weak transcription	Fetal Intestine Large	intestine
33	chr1:92345800-92348800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:92346400-92348000	Enhancers	Colon Smooth Muscle	Colon
35	chr1:92346400-92348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:92346400-92352400	Active TSS	Ovary	ovary
37	chr1:92347000-92348800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:92347000-92348800	Weak transcription	Hela-S3	cervix
39	chr1:92347000-92350000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:92347000-92350000	Weak transcription	GM12878-XiMat	blood
41	chr1:92347200-92348000	Enhancers	Psoas Muscle	Psoas
42	chr1:92347200-92348200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:92347200-92348200	Enhancers	Placenta	Placenta
44	chr1:92347200-92348400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:92347200-92348400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:92347200-92348400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:92347200-92348400	Weak transcription	Fetal Kidney	kidney
48	chr1:92347200-92348400	Weak transcription	NHDF-Ad	bronchial
49	chr1:92347200-92348600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:92347200-92348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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