Variant report

Variant	rs6688706
Chromosome Location	chr1:92056144-92056145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92049157..92050899-chr1:92056086..92058376,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874796	0.96[ASN][1000 genomes]
rs11164971	0.87[ASN][1000 genomes]
rs11165002	0.96[ASN][1000 genomes]
rs11165008	0.96[ASN][1000 genomes]
rs12048543	0.96[ASN][1000 genomes]
rs12059556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17503335	0.84[ASN][1000 genomes]
rs1848435	0.87[ASN][1000 genomes]
rs4658235	0.96[ASN][1000 genomes]
rs56034708	0.82[ASN][1000 genomes]
rs6604044	0.94[ASN][1000 genomes]
rs6604045	0.96[ASN][1000 genomes]
rs6677520	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6681573	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681883	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686665	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049400-92056400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:92051000-92056400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:92051200-92056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:92051400-92056600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:92051600-92056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:92051600-92056800	Weak transcription	Left Ventricle	heart
8	chr1:92051600-92058000	Weak transcription	Right Ventricle	heart
9	chr1:92051600-92060000	Weak transcription	Lung	lung
10	chr1:92051800-92056800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:92051800-92058200	Weak transcription	Right Atrium	heart
12	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:92052200-92056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:92052200-92056400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:92052200-92056600	Weak transcription	Primary B cells from cord blood	blood
16	chr1:92052200-92056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:92052200-92057000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:92054400-92057400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:92054600-92056800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:92054600-92057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:92054800-92056800	Enhancers	K562	blood
22	chr1:92055000-92056400	Enhancers	Fetal Stomach	stomach
23	chr1:92055000-92057000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:92055000-92057400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:92055000-92060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:92055200-92056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:92055400-92061200	Enhancers	Ovary	ovary
28	chr1:92055600-92056800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:92055600-92056800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:92055600-92056800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:92055600-92061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:92055800-92056400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:92055800-92057200	Enhancers	Placenta	Placenta
34	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:92056000-92056200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:92056000-92056800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:92056000-92057000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:92056000-92057000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:92056000-92058400	Enhancers	Fetal Thymus	thymus
40	chr1:92056000-92062200	Enhancers	Fetal Heart	heart

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