Variant report

Variant	rs35557473
Chromosome Location	chr8:9414711-9414712
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	POLR2A	chr8:9412691-9414855	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr8:9412765-9414770	IMR90	lung:	n/a	n/a
3	MXI1	chr8:9411917-9414938	SK-N-SH	brain:	n/a	n/a
4	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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10093621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094356	0.89[AMR][1000 genomes]
rs10098965	0.89[AMR][1000 genomes]
rs10101221	0.89[AMR][1000 genomes]
rs10101642	0.89[AMR][1000 genomes]
rs10102866	0.89[AMR][1000 genomes]
rs10104208	0.89[AMR][1000 genomes]
rs10109453	0.89[AMR][1000 genomes]
rs10111136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113714	0.87[AMR][1000 genomes]
rs11984704	0.87[AMR][1000 genomes]
rs28398294	1.00[AMR][1000 genomes]
rs28398977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28415429	0.89[AMR][1000 genomes]
rs28452227	0.89[AMR][1000 genomes]
rs28479025	0.89[AMR][1000 genomes]
rs28511573	1.00[AMR][1000 genomes]
rs28523514	0.89[AMR][1000 genomes]
rs28670159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28700058	1.00[EUR][1000 genomes]
rs28704110	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28718248	0.89[AMR][1000 genomes]
rs28721416	0.87[AMR][1000 genomes]
rs34585234	1.00[AMR][1000 genomes]
rs34926300	0.87[AMR][1000 genomes]
rs4129362	0.89[AMR][1000 genomes]
rs4354311	0.89[AMR][1000 genomes]
rs55893352	1.00[AMR][1000 genomes]
rs58165072	0.89[AMR][1000 genomes]
rs58766098	0.87[AMR][1000 genomes]
rs58946539	0.89[AMR][1000 genomes]
rs59032403	0.87[AMR][1000 genomes]
rs60044335	0.89[AMR][1000 genomes]
rs60862678	1.00[AMR][1000 genomes]
rs61515500	0.89[AMR][1000 genomes]
rs73526934	1.00[AMR][1000 genomes]
rs73526947	0.89[AMR][1000 genomes]
rs73526950	0.89[AMR][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:117 , 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	chr8:9412800-9414800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:9412800-9414800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:9412800-9414800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:9412800-9414800	Active TSS	Colonic Mucosa	Colon
19	chr8:9412800-9414800	Active TSS	Ovary	ovary
20	chr8:9412800-9414800	Active TSS	Psoas Muscle	Psoas
21	chr8:9412800-9414800	Active TSS	Right Ventricle	heart
22	chr8:9412800-9415000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:9412800-9415000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:9412800-9415000	Active TSS	Brain Substantia Nigra	brain
25	chr8:9412800-9415000	Active TSS	Fetal Muscle Leg	muscle
26	chr8:9412800-9415400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:9412800-9415400	Active TSS	Fetal Intestine Small	intestine
28	chr8:9412800-9415400	Active TSS	GM12878-XiMat	blood
29	chr8:9412800-9415600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:9412800-9415600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:9412800-9416200	Active TSS	HSMMtube	muscle
32	chr8:9413000-9414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:9413000-9414800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:9413000-9414800	Active TSS	Left Ventricle	heart
35	chr8:9413000-9414800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr8:9413000-9415000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:9413000-9415200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:9413000-9415400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:9413000-9415400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:9413000-9416000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:9413600-9414800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr8:9413800-9415000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr8:9413800-9416200	Active TSS	Right Atrium	heart
44	chr8:9414000-9414800	Flanking Active TSS	Liver	Liver
45	chr8:9414000-9414800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:9414000-9415000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr8:9414000-9415000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr8:9414000-9415000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:9414000-9415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:9414000-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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