Variant report

Variant	rs2765888
Chromosome Location	chr1:92162292-92162293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92151670..92153207-chr1:92161456..92163644,2	K562	blood:
2	chr1:92156294..92159210-chr1:92161380..92163036,2	K562	blood:
3	chr1:92160729..92163460-chr1:92181543..92183054,2	K562	blood:
4	chr1:92161234..92163653-chr1:92164578..92167182,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1555889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765887	1.00[CHB][hapmap]
rs2810888	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2810891	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284870	0.96[ASN][1000 genomes]
rs284873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3767578	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669888	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
2	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
5	chr1:92149600-92166000	Weak transcription	NHEK	skin
6	chr1:92150400-92162600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:92151200-92162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:92151200-92164200	Weak transcription	Right Ventricle	heart
9	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:92151800-92162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:92152400-92162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:92152600-92184200	Strong transcription	HepG2	liver
13	chr1:92152800-92162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:92152800-92162400	Weak transcription	Left Ventricle	heart
15	chr1:92152800-92163200	Weak transcription	Fetal Heart	heart
16	chr1:92153000-92162400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:92155400-92162400	Weak transcription	Spleen	Spleen
19	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:92155800-92171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:92156000-92163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:92156000-92163200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:92156000-92172800	Weak transcription	Gastric	stomach
26	chr1:92156200-92162400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:92156200-92172800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:92156200-92177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:92157800-92163800	Strong transcription	Placenta	Placenta
30	chr1:92158200-92163000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:92159000-92173600	Weak transcription	Fetal Kidney	kidney
32	chr1:92159400-92172800	Weak transcription	Aorta	Aorta
33	chr1:92159400-92173400	Weak transcription	Brain Substantia Nigra	brain
34	chr1:92159600-92162800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:92159800-92162400	Weak transcription	Right Atrium	heart
36	chr1:92159800-92162600	Weak transcription	Osteobl	bone
37	chr1:92159800-92162800	Weak transcription	Psoas Muscle	Psoas
38	chr1:92159800-92164200	Weak transcription	Lung	lung
39	chr1:92159800-92164600	Weak transcription	Fetal Stomach	stomach
40	chr1:92159800-92164800	Weak transcription	Pancreas	Pancrea
41	chr1:92159800-92171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:92159800-92172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:92159800-92172800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:92160400-92162600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:92160800-92162400	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:92161200-92162400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:92161200-92162800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:92161200-92165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:92161400-92162400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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