Variant report

Variant	rs73691194
Chromosome Location	chr8:67977846-67977847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:67975604-67977953	A549	lung:	n/a	chr8:67976509-67976530 chr8:67976512-67976522 chr8:67976507-67976525 chr8:67976508-67976524
2	CHD1	chr8:67976154-67978464	IMR90	lung:	n/a	chr8:67977229-67977239 chr8:67977308-67977315
3	CTCF	chr8:67977740-67977890	HPAF	blood vessel:	n/a	n/a
4	POLR2A	chr8:67976321-67978050	IMR90	lung:	n/a	n/a
5	CTCF	chr8:67977720-67977870	HMF	breast:	n/a	n/a
6	MXI1	chr8:67975896-67977899	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr8:67977700-67977850	AG09319	gingival:	n/a	n/a
8	MXI1	chr8:67976087-67978180	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67977500..67979616-chr8:68012864..68015307,2	MCF-7	breast:
2	chr8:67830433..67839604-chr8:67970368..67979371,24	MCF-7	breast:
3	chr8:67828671..67841001-chr8:67968948..67981786,43	K562	blood:
4	chr8:67340059..67341609-chr8:67975911..67978100,2	K562	blood:
5	chr8:67973427..67978093-chr8:68011189..68018690,8	K562	blood:
6	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:
7	chr8:67977046..67978803-chr8:67992749..67996349,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R42-1	chr8:67977780-67978091	NONHSAT127077

Variant related genes	Relation type
COPS5	TF binding region
ENSG00000104218	Chromatin interaction
ENSG00000254341	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000252637	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992626	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466283	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933071	0.84[EUR][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377622	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56717011	0.84[EUR][1000 genomes]
rs56902031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004549	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693129	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7816746	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831052	0.84[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	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67972000-67978000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67973000-67978000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:67973400-67978000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:67973400-67978200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:67973400-67978400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:67973600-67978200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:67974800-67978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:67975600-67978000	Active TSS	Placenta	Placenta
9	chr8:67976200-67978000	Active TSS	NHDF-Ad	bronchial
10	chr8:67976200-67978200	Active TSS	Esophagus	oesophagus
11	chr8:67976200-67978400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:67976200-67978400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:67976400-67978000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:67976400-67978000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:67976400-67978000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:67976400-67978000	Active TSS	Brain Anterior Caudate	brain
17	chr8:67976400-67978200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:67976400-67978200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:67976400-67978200	Active TSS	Fetal Lung	lung
20	chr8:67976400-67978200	Active TSS	Lung	lung
21	chr8:67976400-67978400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:67976600-67978400	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:67976800-67978000	Active TSS	Right Atrium	heart
24	chr8:67977000-67978000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:67977200-67978000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:67977200-67978000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:67977200-67978000	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr8:67977200-67978000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:67977200-67978000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:67977200-67978200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:67977400-67978000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:67977400-67978000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:67977400-67978000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:67977400-67978000	Flanking Active TSS	Fetal Brain Female	brain
35	chr8:67977400-67978000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr8:67977400-67978000	Flanking Active TSS	HUVEC	blood vessel
37	chr8:67977400-67978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:67977400-67978200	Flanking Active TSS	Liver	Liver
39	chr8:67977400-67978200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr8:67977400-67978200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr8:67977400-67978200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr8:67977400-67978200	Flanking Active TSS	Fetal Brain Male	brain
43	chr8:67977400-67978200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:67977400-67978200	Flanking Active TSS	Hela-S3	cervix
45	chr8:67977400-67978400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:67977400-67978400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:67977400-67978400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:67977400-67978400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:67977400-67978400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:67977400-67978400	Flanking Active TSS	Dnd41	blood

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