Variant report

Variant	rs2810890
Chromosome Location	chr1:92155130-92155131
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	chr1:92154030..92157001-chr1:92158555..92160542,2	K562	blood:
2	chr1:92148164..92151549-chr1:92152320..92156969,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10157887	0.87[EUR][1000 genomes]
rs12065370	0.87[EUR][1000 genomes]
rs1613413	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17131536	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2810889	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284866	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284867	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284868	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284869	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284871	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284875	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs284878	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
3	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
4	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:92149200-92155400	Enhancers	Fetal Lung	lung
7	chr1:92149400-92155600	Weak transcription	Pancreas	Pancrea
8	chr1:92149400-92159000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
10	chr1:92149600-92166000	Weak transcription	NHEK	skin
11	chr1:92150200-92155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:92150400-92158800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:92150400-92162600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:92150600-92159000	Weak transcription	Osteobl	bone
15	chr1:92150800-92158000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:92150800-92158600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:92150800-92159000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:92150800-92159000	Weak transcription	Stomach Mucosa	stomach
19	chr1:92150800-92160400	Weak transcription	K562	blood
20	chr1:92151200-92162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:92151200-92164200	Weak transcription	Right Ventricle	heart
22	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:92151400-92155400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:92151400-92159000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:92151400-92162200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:92151600-92161800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:92151600-92162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:92151600-92162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:92151800-92158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:92151800-92162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:92152000-92155600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:92152400-92162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:92152600-92155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:92152600-92159000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:92152600-92184200	Strong transcription	HepG2	liver
36	chr1:92152800-92162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:92152800-92162400	Weak transcription	Left Ventricle	heart
38	chr1:92152800-92163200	Weak transcription	Fetal Heart	heart
39	chr1:92153000-92157600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:92153000-92158200	Weak transcription	Psoas Muscle	Psoas
41	chr1:92153000-92162400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:92153200-92155600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:92153400-92159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:92153600-92155800	Enhancers	Fetal Intestine Large	intestine
46	chr1:92153600-92158400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:92153800-92155400	Genic enhancers	Placenta	Placenta
48	chr1:92153800-92156200	Enhancers	Right Atrium	heart
49	chr1:92154000-92155200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:92154000-92155600	Enhancers	HUES64 Cell Line	embryonic stem cell

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