Variant report

Variant	rs1138489
Chromosome Location	chr8:92080575-92080576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:92076295-92082821	K562	blood:	n/a	n/a
2	POLR2A	chr8:92078161-92080626	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr8:92080409-92081560	K562	blood:	n/a	chr8:92080422-92080435
4	POLR2A	chr8:92079112-92081315	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
2	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
3	chr8:92054183..92058700-chr8:92080091..92083007,4	K562	blood:
4	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
5	chr8:91997210..91999385-chr8:92079989..92082119,2	MCF-7	breast:
6	chr8:91012562..91014700-chr8:92079196..92081474,2	K562	blood:
7	chr8:92051581..92056124-chr8:92079748..92084488,10	MCF-7	breast:
8	chr8:92011034..92012982-chr8:92078918..92081424,2	K562	blood:
9	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
10	chr8:92008926..92011654-chr8:92079455..92081464,2	K562	blood:
11	chr8:91982671..91984562-chr8:92080291..92082134,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD6B-2	chr8:92080139-92081168	NONHSAT127669

No data

Variant related genes	Relation type
OTUD6B	TF binding region
ENSG00000253250	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10090581	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095630	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096149	0.80[ASN][1000 genomes]
rs10100069	0.90[EUR][1000 genomes]
rs10110267	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216413	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10942	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956790	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956791	0.93[EUR][1000 genomes]
rs10956792	0.93[EUR][1000 genomes]
rs10956793	0.93[EUR][1000 genomes]
rs11557571	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11786324	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1180	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12334996	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12542178	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12542580	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545969	0.93[EUR][1000 genomes]
rs12679861	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28372564	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28429767	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28629349	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28750250	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808378	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4373488	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4493873	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501548	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4501550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4568579	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55775840	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56084507	0.85[EUR][1000 genomes]
rs56278134	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56306245	0.90[EUR][1000 genomes]
rs57987672	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58278856	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62531560	0.81[EUR][1000 genomes]
rs6471265	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6993713	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009178	0.80[ASN][1000 genomes]
rs7014578	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815938	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7816107	0.86[EUR][1000 genomes]
rs7819178	0.87[EUR][1000 genomes]
rs7820904	0.87[EUR][1000 genomes]
rs7832592	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7841266	0.90[EUR][1000 genomes]
rs7843665	0.81[ASN][1000 genomes]
rs7844277	0.80[ASN][1000 genomes]
rs7846033	0.80[ASN][1000 genomes]
rs8081	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643319	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9918929	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92066200-92081400	Weak transcription	Left Ventricle	heart
2	chr8:92070600-92080600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:92070600-92081200	Weak transcription	Aorta	Aorta
4	chr8:92070800-92080600	Weak transcription	Fetal Kidney	kidney
5	chr8:92071400-92080800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:92072400-92080600	Weak transcription	NH-A	brain
7	chr8:92072400-92081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:92073000-92080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:92073000-92080800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:92073200-92080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:92073200-92081200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:92073200-92081200	Weak transcription	Fetal Thymus	thymus
13	chr8:92073400-92080600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:92073400-92081200	Weak transcription	Ovary	ovary
15	chr8:92073800-92081200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:92074800-92080600	Weak transcription	Osteobl	bone
17	chr8:92075600-92082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:92076000-92081400	Weak transcription	Pancreas	Pancrea
19	chr8:92076400-92080800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:92077600-92081600	Weak transcription	Lung	lung
21	chr8:92077800-92081000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:92078000-92080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:92078000-92080600	Enhancers	Brain Hippocampus Middle	brain
24	chr8:92078000-92080600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:92078400-92080800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:92078400-92081600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:92078600-92080600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:92078800-92080600	Weak transcription	Psoas Muscle	Psoas
29	chr8:92078800-92081000	Enhancers	Primary T cells from cord blood	blood
30	chr8:92078800-92081000	Weak transcription	Fetal Intestine Small	intestine
31	chr8:92078800-92081200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:92078800-92081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:92079000-92080600	Enhancers	Brain Angular Gyrus	brain
34	chr8:92079000-92080600	Active TSS	GM12878-XiMat	blood
35	chr8:92079000-92081000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:92079000-92081400	Weak transcription	Placenta	Placenta
37	chr8:92079200-92080600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:92079200-92080800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:92079200-92080800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:92079200-92080800	Enhancers	Brain Anterior Caudate	brain
41	chr8:92079200-92081000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:92079200-92081000	Enhancers	Fetal Intestine Large	intestine
43	chr8:92079200-92081400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:92079400-92080600	Genic enhancers	A549	lung
45	chr8:92079400-92080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:92079600-92080600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:92079600-92080600	Enhancers	Primary B cells from cord blood	blood
48	chr8:92079600-92080600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:92079600-92080600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:92079600-92080600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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