Variant report

Variant	rs11185796
Chromosome Location	chr10:91375482-91375483
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	FOS	chr10:91375474-91375871	HUVEC	blood vessel:	n/a	chr10:91375679-91375686 chr10:91375677-91375688 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
ENSG00000152782	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000232936	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1075374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881607	0.95[ASN][1000 genomes]
rs10881608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881611	0.85[ASN][1000 genomes]
rs10881612	0.82[ASN][1000 genomes]
rs11185760	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11185773	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11185780	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11185790	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11185793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185802	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185809	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11185811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11185812	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11185819	0.82[ASN][1000 genomes]
rs11185820	0.80[ASN][1000 genomes]
rs12219790	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774378	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12777243	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1409360	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926214	0.85[ASN][1000 genomes]
rs4294495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45510095	0.82[ASN][1000 genomes]
rs56160723	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs719909	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72818709	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs730287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7476027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7905163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91335400-91375600	Weak transcription	NH-A	brain
2	chr10:91345000-91392800	Weak transcription	Hela-S3	cervix
3	chr10:91351600-91403400	Weak transcription	Esophagus	oesophagus
4	chr10:91352600-91403400	Weak transcription	Small Intestine	intestine
5	chr10:91353200-91377000	Weak transcription	Lung	lung
6	chr10:91353800-91403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:91354800-91378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:91356800-91378200	Weak transcription	Spleen	Spleen
9	chr10:91358600-91377600	Weak transcription	Psoas Muscle	Psoas
10	chr10:91359400-91393000	Weak transcription	NHEK	skin
11	chr10:91359800-91403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:91363200-91377000	Weak transcription	Brain Substantia Nigra	brain
13	chr10:91363200-91377000	Weak transcription	Fetal Heart	heart
14	chr10:91370000-91380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:91370200-91375600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:91370200-91376600	Weak transcription	Osteobl	bone
17	chr10:91370200-91381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:91370200-91385800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:91370200-91403200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:91370800-91375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:91371000-91392800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:91371400-91389400	Weak transcription	A549	lung
23	chr10:91371600-91375600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:91371600-91375600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:91371600-91376200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:91371600-91376600	Weak transcription	Fetal Brain Female	brain
27	chr10:91371600-91376800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:91371600-91377000	Weak transcription	Right Ventricle	heart
29	chr10:91371600-91378000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:91371600-91378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:91371600-91378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:91371600-91378400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:91371800-91375600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:91371800-91375600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:91371800-91375600	Weak transcription	NHDF-Ad	bronchial
36	chr10:91371800-91376800	Weak transcription	Left Ventricle	heart
37	chr10:91371800-91377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:91371800-91378000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:91371800-91378200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:91371800-91379000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:91371800-91380400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:91371800-91389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:91371800-91393600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:91371800-91401600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:91371800-91403200	Weak transcription	HSMMtube	muscle
46	chr10:91372000-91378600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:91372000-91393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:91372400-91378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:91372800-91376000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:91372800-91377000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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