Variant report

Variant	rs2391161
Chromosome Location	chr1:92751150-92751151
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	chr1:92751144..92752872-chr1:92762540..92765121,2	K562	blood:

Variant related genes	Relation type
ENSG00000174842	Chromatin interaction
ENSG00000122484	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10875319	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875349	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11164288	0.89[EUR][1000 genomes]
rs11164349	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11164546	0.82[EUR][1000 genomes]
rs11803383	0.83[EUR][1000 genomes]
rs11803457	0.92[EUR][1000 genomes]
rs12024731	0.83[EUR][1000 genomes]
rs12086394	0.91[EUR][1000 genomes]
rs1487536	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1487540	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1542685	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1872007	0.84[EUR][1000 genomes]
rs2046620	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2087194	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3103170	0.80[EUR][1000 genomes]
rs3103176	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3103178	0.92[EUR][1000 genomes]
rs3103181	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3122321	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3122323	0.84[EUR][1000 genomes]
rs3122325	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3122327	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3131813	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131814	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3131827	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131828	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3929737	0.93[EUR][1000 genomes]
rs4393167	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4414050	0.89[EUR][1000 genomes]
rs4658300	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6603962	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6603971	0.84[EUR][1000 genomes]
rs6604088	0.92[EUR][1000 genomes]
rs6604090	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6661384	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6663114	0.93[EUR][1000 genomes]
rs6663118	0.92[EUR][1000 genomes]
rs6663278	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6668803	0.89[EUR][1000 genomes]
rs6689366	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6692287	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6702267	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs733012	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs745793	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7517541	0.93[EUR][1000 genomes]
rs7518974	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7520275	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7539757	0.80[EUR][1000 genomes]
rs7543947	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7554154	0.82[EUR][1000 genomes]
rs912794	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9440085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943178	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92707200-92764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92709000-92762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:92710600-92753200	Weak transcription	Small Intestine	intestine
4	chr1:92710600-92762000	Weak transcription	Fetal Brain Male	brain
5	chr1:92710600-92763400	Weak transcription	Brain Angular Gyrus	brain
6	chr1:92710600-92764000	Weak transcription	Gastric	stomach
7	chr1:92711000-92763600	Weak transcription	HSMMtube	muscle
8	chr1:92711200-92761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:92711200-92764000	Weak transcription	Spleen	Spleen
10	chr1:92719400-92764000	Weak transcription	Pancreas	Pancrea
11	chr1:92719600-92760800	Weak transcription	Fetal Heart	heart
12	chr1:92720000-92763800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:92722400-92763400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:92723000-92763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:92724000-92760600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:92724600-92763800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:92725800-92764000	Weak transcription	Colonic Mucosa	Colon
18	chr1:92727000-92763800	Weak transcription	Right Ventricle	heart
19	chr1:92727200-92759200	Weak transcription	A549	lung
20	chr1:92727200-92763800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:92729800-92763800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:92731400-92751200	Weak transcription	GM12878-XiMat	blood
23	chr1:92732000-92763600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:92733600-92754800	Weak transcription	HMEC	breast
25	chr1:92735200-92752400	Weak transcription	Psoas Muscle	Psoas
26	chr1:92736000-92763600	Weak transcription	Liver	Liver
27	chr1:92736800-92763800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:92737800-92759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:92738000-92760600	Weak transcription	Hela-S3	cervix
30	chr1:92738000-92763800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:92738400-92752200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:92738400-92763800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:92738800-92763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:92740800-92752400	Weak transcription	HSMM	muscle
35	chr1:92741000-92754400	Weak transcription	K562	blood
36	chr1:92741400-92754000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:92742200-92754600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:92742400-92753600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:92743200-92753600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:92743200-92759200	Weak transcription	NHLF	lung
41	chr1:92743200-92759600	Weak transcription	Osteobl	bone
42	chr1:92743200-92763600	Weak transcription	NHDF-Ad	bronchial
43	chr1:92743400-92751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:92743400-92751200	Weak transcription	HUVEC	blood vessel
45	chr1:92743400-92752400	Weak transcription	NH-A	brain
46	chr1:92743600-92752000	Weak transcription	NHEK	skin
47	chr1:92743800-92754000	Weak transcription	Primary B cells from cord blood	blood
48	chr1:92743800-92754400	Weak transcription	HepG2	liver
49	chr1:92744000-92764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:92744600-92751200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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