Variant report

Variant	rs2777842
Chromosome Location	chr1:227157805-227157806
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	chr1:227156654..227158376-chr1:227160106..227161794,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1289470	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1298652	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1888826	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1888828	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2490269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2777833	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2777841	0.94[ASN][1000 genomes]
rs2777843	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2802269	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2997438	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3806262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653476	0.90[AFR][1000 genomes]
rs4653780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:227135200-227158000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:227143400-227161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227145400-227159600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:227146400-227162600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:227147200-227161000	Weak transcription	Stomach Mucosa	stomach
9	chr1:227147800-227158600	Strong transcription	Primary T cells from cord blood	blood
10	chr1:227148200-227162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:227148400-227159400	Weak transcription	A549	lung
12	chr1:227148600-227158400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:227149000-227158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:227149200-227158400	Strong transcription	Ovary	ovary
16	chr1:227149400-227158400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:227149400-227161600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:227150200-227158400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:227150400-227158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:227150400-227159600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:227150800-227159400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:227151200-227158000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:227151200-227158200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:227151400-227159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:227151800-227159400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:227152200-227159400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:227152400-227159000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:227152400-227160600	Weak transcription	Small Intestine	intestine
29	chr1:227152400-227161800	Weak transcription	HSMMtube	muscle
30	chr1:227152800-227158400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:227152800-227160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:227153000-227160600	Weak transcription	Fetal Heart	heart
33	chr1:227153600-227160600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:227153800-227160800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:227154000-227159400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:227154000-227160800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:227154200-227164200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:227154400-227159400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:227154400-227159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:227154400-227160200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:227154400-227160200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:227154400-227160600	Weak transcription	Aorta	Aorta
43	chr1:227154400-227160600	Weak transcription	Right Ventricle	heart
44	chr1:227154400-227161200	Weak transcription	Colonic Mucosa	Colon
45	chr1:227154400-227165800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
47	chr1:227154600-227158000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:227154600-227158000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:227154600-227159200	Weak transcription	Fetal Brain Female	brain
50	chr1:227154600-227159600	Weak transcription	Brain Hippocampus Middle	brain

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