Variant report

Variant	rs73193784
Chromosome Location	chr8:9414924-9414925
allele	C/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	MXI1	chr8:9411917-9414938	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:9412916-9415176	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:

Variant related genes	Relation type
ENSG00000272267	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10087012	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10087166	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10088969	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10098758	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10101953	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102030	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10103426	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111980	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984585	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985349	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11995920	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12541409	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12543534	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548306	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12675476	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675511	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12676898	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12681719	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13271097	0.89[ASN][1000 genomes]
rs17150237	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28622033	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28668310	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33945943	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34206126	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34324628	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34790717	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128199	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4840427	0.80[ASN][1000 genomes]
rs4840428	0.83[EUR][1000 genomes]
rs4841173	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841174	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4841175	0.84[EUR][1000 genomes]
rs57453266	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58238328	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61551896	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62493868	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601330	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601331	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601332	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601333	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601334	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601335	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601336	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6601337	0.84[EUR][1000 genomes]
rs66516712	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67706102	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980831	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986386	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6989126	0.84[EUR][1000 genomes]
rs6990097	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990590	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013500	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7814014	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7815817	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7821559	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7822548	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7834823	0.81[EUR][1000 genomes]
rs7844450	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7846140	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9329202	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9329203	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9644677	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9412200-9415200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:9412200-9415400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:9412200-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:9412400-9415000	Active TSS	HSMM	muscle
5	chr8:9412400-9415400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:9412400-9415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:9412600-9415000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:9412600-9415400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:9412600-9415400	Active TSS	HMEC	breast
10	chr8:9412600-9415600	Active TSS	NHLF	lung
11	chr8:9412600-9415800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:9412600-9415800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:9412600-9416200	Active TSS	NHDF-Ad	bronchial
14	chr8:9412600-9417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:9412800-9415000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:9412800-9415000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:9412800-9415000	Active TSS	Brain Substantia Nigra	brain
18	chr8:9412800-9415000	Active TSS	Fetal Muscle Leg	muscle
19	chr8:9412800-9415400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:9412800-9415400	Active TSS	Fetal Intestine Small	intestine
21	chr8:9412800-9415400	Active TSS	GM12878-XiMat	blood
22	chr8:9412800-9415600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:9412800-9415600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:9412800-9416200	Active TSS	HSMMtube	muscle
25	chr8:9413000-9415000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:9413000-9415200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:9413000-9415400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:9413000-9415400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:9413000-9416000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:9413800-9415000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:9413800-9416200	Active TSS	Right Atrium	heart
32	chr8:9414000-9415000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:9414000-9415000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr8:9414000-9415000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:9414000-9415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:9414000-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:9414200-9415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:9414200-9415000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr8:9414200-9415000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr8:9414200-9415000	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr8:9414200-9415600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:9414200-9415600	Flanking Active TSS	HUVEC	blood vessel
43	chr8:9414200-9416400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:9414200-9417200	Flanking Active TSS	Dnd41	blood
45	chr8:9414400-9415000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:9414400-9415000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:9414400-9415000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:9414400-9415000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:9414400-9415000	Flanking Active TSS	Fetal Kidney	kidney
50	chr8:9414400-9415000	Flanking Active TSS	A549	lung

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