Variant report

Variant	rs263976
Chromosome Location	chr1:45358916-45358917
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	chr1:45357545..45362939-chr1:45366280..45371590,5	K562	blood:
2	chr1:45348967..45351344-chr1:45356459..45358965,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11573596	0.87[AFR][1000 genomes]
rs12407290	1.00[YRI][hapmap]
rs174638	1.00[AFR][1000 genomes]
rs196764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2265603	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2476170	1.00[AMR][1000 genomes]
rs263957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263959	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263984	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263993	1.00[AMR][1000 genomes]
rs263995	1.00[AMR][1000 genomes]
rs264000	1.00[AMR][1000 genomes]
rs264001	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs264003	1.00[AMR][1000 genomes]
rs264012	1.00[YRI][hapmap]
rs264017	1.00[YRI][hapmap]
rs35710243	1.00[AFR][1000 genomes]
rs3923304	1.00[YRI][hapmap]
rs410800	1.00[AMR][1000 genomes]
rs411976	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs418302	1.00[AFR][1000 genomes]
rs425780	1.00[AFR][1000 genomes]
rs428928	1.00[AMR][1000 genomes]
rs430057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs449870	1.00[AMR][1000 genomes]
rs474207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs492515	1.00[YRI][hapmap]
rs506691	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs536499	1.00[AMR][1000 genomes]
rs547476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577647	1.00[AMR][1000 genomes]
rs638062	1.00[AMR][1000 genomes]
rs662660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429139	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS 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	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
3	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
4	chr1:45334600-45371800	Weak transcription	Gastric	stomach
5	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
6	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
7	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
8	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:45347600-45360400	Weak transcription	HMEC	breast
11	chr1:45347600-45362600	Weak transcription	Lung	lung
12	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:45350600-45360600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:45350600-45361200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:45350800-45363200	Weak transcription	Right Ventricle	heart
18	chr1:45350800-45363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
21	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
22	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
23	chr1:45352600-45360400	Weak transcription	Ovary	ovary
24	chr1:45353000-45374000	Weak transcription	Fetal Heart	heart
25	chr1:45354800-45359600	Weak transcription	Osteobl	bone
26	chr1:45354800-45360000	Weak transcription	NHEK	skin
27	chr1:45355200-45366400	Weak transcription	Psoas Muscle	Psoas
28	chr1:45355600-45368200	Weak transcription	Fetal Stomach	stomach
29	chr1:45355800-45360000	Weak transcription	HUVEC	blood vessel
30	chr1:45355800-45363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:45355800-45369000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
33	chr1:45356000-45359200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:45356000-45360000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:45356000-45363600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:45356000-45369000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:45356000-45373000	Weak transcription	Brain Anterior Caudate	brain
38	chr1:45356000-45407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
40	chr1:45356400-45390600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:45356600-45359600	Weak transcription	NHLF	lung
42	chr1:45356600-45360200	Weak transcription	NHDF-Ad	bronchial
43	chr1:45356600-45362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:45356600-45364000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:45356800-45359400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:45356800-45374600	Weak transcription	Spleen	Spleen
47	chr1:45357000-45359000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:45357000-45359200	Strong transcription	Adipose Nuclei	Adipose
49	chr1:45357200-45359200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:45357200-45359200	Strong transcription	Fetal Muscle Leg	muscle

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