Variant report

Variant	rs13255216
Chromosome Location	chr8:61674646-61674647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61669414..61671448-chr8:61672725..61675279,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11986627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926387	0.87[ASN][1000 genomes]
rs35914442	0.87[AFR][1000 genomes]
rs7816419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:61657000-61690400	Weak transcription	HepG2	liver
3	chr8:61658400-61683200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:61661200-61679000	Weak transcription	Small Intestine	intestine
5	chr8:61664600-61679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:61665000-61674800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:61665000-61677600	Weak transcription	Psoas Muscle	Psoas
8	chr8:61665000-61681000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:61665200-61674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:61665200-61674800	Weak transcription	Left Ventricle	heart
11	chr8:61665200-61677200	Weak transcription	Fetal Thymus	thymus
12	chr8:61665600-61674800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:61665800-61679000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:61671600-61675000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:61671800-61677400	Weak transcription	GM12878-XiMat	blood
16	chr8:61671800-61678200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61671800-61679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:61672000-61681000	Weak transcription	NHEK	skin
19	chr8:61672000-61694400	Weak transcription	A549	lung
20	chr8:61672200-61675800	Weak transcription	HSMM	muscle
21	chr8:61672200-61677200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:61672200-61677800	Weak transcription	Fetal Brain Male	brain
23	chr8:61672200-61678800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
25	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
26	chr8:61672400-61674800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:61672400-61674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:61672400-61675200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:61672400-61677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:61672400-61677200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:61672400-61679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:61672600-61674800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:61672600-61674800	Weak transcription	Brain Substantia Nigra	brain
34	chr8:61672600-61674800	Weak transcription	Right Atrium	heart
35	chr8:61672600-61675000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:61672600-61677200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:61672600-61677400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:61672600-61677400	Weak transcription	Brain Anterior Caudate	brain
39	chr8:61672600-61678200	Weak transcription	Pancreas	Pancrea
40	chr8:61672600-61679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:61672600-61679600	Weak transcription	HSMMtube	muscle
42	chr8:61672600-61681000	Weak transcription	Fetal Brain Female	brain
43	chr8:61672600-61685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:61672800-61674800	Weak transcription	Primary T cells from cord blood	blood
45	chr8:61672800-61674800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:61672800-61674800	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:61672800-61675800	Weak transcription	NH-A	brain
48	chr8:61672800-61677000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:61672800-61677000	Weak transcription	Brain Angular Gyrus	brain
50	chr8:61672800-61678200	Weak transcription	Dnd41	blood

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