Variant report

Variant	rs1473446
Chromosome Location	chr8:61665577-61665578
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61646629..61649455-chr8:61665377..61667682,2	K562	blood:
2	chr8:61660270..61663422-chr8:61664798..61667143,3	K562	blood:
3	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10106752	0.81[EUR][1000 genomes]
rs1017862	0.82[AFR][1000 genomes]
rs10283352	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13280978	0.87[ASN][1000 genomes]
rs1483208	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28609390	0.85[ASN][1000 genomes]
rs28710955	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35168272	0.89[ASN][1000 genomes]
rs4237036	0.87[ASN][1000 genomes]
rs4288413	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4738826	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4738828	0.84[ASN][1000 genomes]
rs4738829	0.84[ASN][1000 genomes]
rs7011801	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs876957	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900504	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
2	chr8:61655800-61666200	Weak transcription	Lung	lung
3	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:61657000-61690400	Weak transcription	HepG2	liver
5	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
6	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
7	chr8:61662000-61667400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:61662200-61666000	Enhancers	Primary T cells from cord blood	blood
9	chr8:61662400-61665800	Enhancers	Brain Hippocampus Middle	brain
10	chr8:61662600-61666200	Enhancers	Brain Substantia Nigra	brain
11	chr8:61663000-61666800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:61663200-61665800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:61663400-61665600	Enhancers	Brain Anterior Caudate	brain
14	chr8:61663400-61665600	Enhancers	Fetal Brain Female	brain
15	chr8:61663400-61665800	Enhancers	Dnd41	blood
16	chr8:61663400-61666000	Enhancers	Fetal Lung	lung
17	chr8:61663600-61665600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61663600-61665800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:61663600-61666200	Enhancers	Brain Germinal Matrix	brain
20	chr8:61663800-61665600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:61663800-61665600	Enhancers	GM12878-XiMat	blood
22	chr8:61663800-61665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:61663800-61666000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:61663800-61666000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:61663800-61666000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:61664000-61665600	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:61664000-61665600	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:61664000-61665600	Enhancers	Stomach Mucosa	stomach
29	chr8:61664000-61665800	Enhancers	Adipose Nuclei	Adipose
30	chr8:61664000-61665800	Enhancers	K562	blood
31	chr8:61664000-61666000	Enhancers	HSMMtube	muscle
32	chr8:61664200-61665600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:61664200-61665800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:61664200-61666000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:61664200-61666000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:61664400-61665600	Enhancers	HSMM	muscle
37	chr8:61664400-61665800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:61664400-61666800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:61664400-61671200	Weak transcription	Brain Angular Gyrus	brain
40	chr8:61664600-61665600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:61664600-61665800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:61664800-61665600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:61664800-61665600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:61664800-61667200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:61664800-61671800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:61665000-61666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:61665000-61667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:61665000-61671200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:61665000-61671200	Weak transcription	Brain Inferior Temporal Lobe	brain

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