Variant report

Variant	rs477003
Chromosome Location	chr1:91981153-91981154
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91981144..91983641-chr1:92002927..92005643,2	K562	blood:
2	chr1:91978959..91981332-chr1:91989401..91992669,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10782970	1.00[EUR][1000 genomes]
rs11165144	1.00[EUR][1000 genomes]
rs11165243	1.00[EUR][1000 genomes]
rs12057280	1.00[EUR][1000 genomes]
rs12075049	1.00[EUR][1000 genomes]
rs13447567	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13447569	1.00[EUR][1000 genomes]
rs1508591	1.00[EUR][1000 genomes]
rs17131494	1.00[EUR][1000 genomes]
rs17131517	1.00[EUR][1000 genomes]
rs539048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs544077	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546872	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669300	1.00[EUR][1000 genomes]
rs72952927	1.00[EUR][1000 genomes]
rs7520738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967200-91989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:91967400-91984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:91967400-91989000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:91967600-91990600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:91967800-91982400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:91967800-91983000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
8	chr1:91968000-91982800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:91968000-91983000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:91968000-91984400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:91968000-91991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:91968200-91987400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:91968400-91984800	Weak transcription	NH-A	brain
14	chr1:91968400-91992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:91968600-91982600	Weak transcription	HepG2	liver
16	chr1:91968600-91984600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:91968600-91986400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:91968600-91989000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:91968600-91991000	Weak transcription	Fetal Stomach	stomach
20	chr1:91968800-91982200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:91968800-91989000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:91968800-91991200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:91969200-91989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:91970800-91984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:91970800-91988800	Weak transcription	Fetal Brain Male	brain
26	chr1:91971000-91989000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:91971000-91991200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:91971400-91983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:91972200-91982000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:91972400-91992400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:91972600-91984600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:91972800-91989000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:91973000-91986800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:91973400-91987000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:91973800-91983400	Strong transcription	K562	blood
36	chr1:91974000-91984200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:91974000-91984200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:91974000-91984200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:91974000-91984400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:91974000-91984400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:91974400-91983200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:91974400-91984600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:91974400-91992000	Weak transcription	HUVEC	blood vessel
44	chr1:91974800-91991000	Strong transcription	Dnd41	blood
45	chr1:91975000-91995200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:91975600-91991600	Weak transcription	NHLF	lung
47	chr1:91975800-91982200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:91976400-91981400	Weak transcription	Fetal Brain Female	brain
49	chr1:91976400-91984200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:91977200-91983200	Strong transcription	Hela-S3	cervix

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