Variant report

Variant	rs1536311
Chromosome Location	chr10:91375704-91375705
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	REST	chr10:91375546-91375894	PFSK-1	brain:	n/a	n/a
2	FOXA1	chr10:91375560-91375967	HepG2	liver:	n/a	chr10:91375914-91375926
3	FOS	chr10:91375556-91375705	MCF10A-Er-Src	breast:	n/a	chr10:91375679-91375686 chr10:91375677-91375688 chr10:91375680-91375691 chr10:91375679-91375687
4	FOSL2	chr10:91375524-91375799	HepG2	liver:	n/a	chr10:91375679-91375686 chr10:91375680-91375691 chr10:91375679-91375687
5	FOS	chr10:91375474-91375871	HUVEC	blood vessel:	n/a	chr10:91375679-91375686 chr10:91375677-91375688 chr10:91375680-91375691 chr10:91375679-91375687
6	FOXA2	chr10:91375606-91375887	HepG2	liver:	n/a	n/a
7	JUND	chr10:91375545-91375844	HepG2	liver:	n/a	chr10:91375679-91375686 chr10:91375680-91375691 chr10:91375677-91375688 chr10:91375679-91375687
8	JUN	chr10:91375564-91375832	HepG2	liver:	n/a	chr10:91375679-91375686 chr10:91375680-91375691 chr10:91375679-91375687

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91375477..91379604-chr10:91402218..91405804,4	K562	blood:
2	chr10:91368563..91370468-chr10:91374797..91376535,2	K562	blood:

Variant related genes	Relation type
PANK1	TF binding region
ENSG00000232936	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000152782	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1815337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182416	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4934489	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6586201	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6586206	0.90[EUR][1000 genomes]
rs6586207	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6586209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913346	0.90[EUR][1000 genomes]
rs943126	0.90[EUR][1000 genomes]
rs943131	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91345000-91392800	Weak transcription	Hela-S3	cervix
2	chr10:91351600-91403400	Weak transcription	Esophagus	oesophagus
3	chr10:91352600-91403400	Weak transcription	Small Intestine	intestine
4	chr10:91353200-91377000	Weak transcription	Lung	lung
5	chr10:91353800-91403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:91354800-91378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:91356800-91378200	Weak transcription	Spleen	Spleen
8	chr10:91358600-91377600	Weak transcription	Psoas Muscle	Psoas
9	chr10:91359400-91393000	Weak transcription	NHEK	skin
10	chr10:91359800-91403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:91363200-91377000	Weak transcription	Brain Substantia Nigra	brain
12	chr10:91363200-91377000	Weak transcription	Fetal Heart	heart
13	chr10:91370000-91380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:91370200-91376600	Weak transcription	Osteobl	bone
15	chr10:91370200-91381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:91370200-91385800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:91370200-91403200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:91371000-91392800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:91371400-91389400	Weak transcription	A549	lung
20	chr10:91371600-91376200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:91371600-91376600	Weak transcription	Fetal Brain Female	brain
22	chr10:91371600-91376800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:91371600-91377000	Weak transcription	Right Ventricle	heart
24	chr10:91371600-91378000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:91371600-91378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:91371600-91378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:91371600-91378400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:91371800-91376800	Weak transcription	Left Ventricle	heart
29	chr10:91371800-91377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:91371800-91378000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:91371800-91378200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:91371800-91379000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:91371800-91380400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:91371800-91389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:91371800-91393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:91371800-91401600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr10:91371800-91403200	Weak transcription	HSMMtube	muscle
38	chr10:91372000-91378600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:91372000-91393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:91372400-91378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:91372800-91376000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:91372800-91377000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:91373000-91376000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:91374000-91377000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:91374000-91377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr10:91374200-91377600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:91374200-91384400	Weak transcription	Liver	Liver
48	chr10:91374600-91376000	Enhancers	Primary T cells from cord blood	blood
49	chr10:91374600-91376000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr10:91374600-91376800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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