Variant report

Variant	rs10444286
Chromosome Location	chr11:45213620-45213621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45206693..45208681-chr11:45212656..45214385,2	K562	blood:
2	chr11:45169703..45171589-chr11:45212812..45215173,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10769123	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10838428	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10838439	0.82[JPT][hapmap]
rs11038339	1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038350	0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs11038357	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs12284404	0.81[AMR][1000 genomes]
rs12292233	1.00[YRI][hapmap]
rs17723470	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs3758723	1.00[CHB][hapmap]
rs3886790	0.89[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55646648	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72907072	0.92[ASN][1000 genomes]
rs7940871	1.00[CHB][hapmap]

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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10444286	PRDM11	cis	Thyroid	GTEx
rs10444286	SYT13	cis	Thyroid	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45202000-45220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:45202800-45234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:45203000-45237000	Weak transcription	Small Intestine	intestine
4	chr11:45203200-45215200	Weak transcription	Psoas Muscle	Psoas
5	chr11:45203400-45215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:45203400-45217600	Weak transcription	NH-A	brain
7	chr11:45203400-45221200	Weak transcription	NHEK	skin
8	chr11:45203400-45230400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45203400-45231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:45203600-45226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:45203600-45231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:45204800-45214600	Strong transcription	Fetal Lung	lung
13	chr11:45205000-45214200	Strong transcription	Fetal Stomach	stomach
14	chr11:45205200-45230400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:45205800-45226400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:45205800-45238800	Weak transcription	HSMMtube	muscle
17	chr11:45205800-45251800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:45206000-45247800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:45206400-45226000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:45206600-45251600	Weak transcription	HepG2	liver
21	chr11:45206800-45215200	Weak transcription	Right Atrium	heart
22	chr11:45207000-45232400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:45207200-45222000	Strong transcription	Fetal Intestine Large	intestine
24	chr11:45207200-45230200	Weak transcription	Colonic Mucosa	Colon
25	chr11:45207600-45229400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:45207800-45214200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:45208600-45214400	Strong transcription	A549	lung
28	chr11:45209000-45235200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:45209800-45215200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:45210000-45214200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:45210000-45226200	Weak transcription	Brain Germinal Matrix	brain
32	chr11:45210000-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:45210200-45220800	Weak transcription	Left Ventricle	heart
34	chr11:45210200-45224600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:45210200-45225800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:45210200-45226400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:45210200-45227800	Weak transcription	Right Ventricle	heart
38	chr11:45210200-45230200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:45210200-45247600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:45210200-45251600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:45210400-45214800	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:45210400-45217800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:45210400-45219600	Weak transcription	Aorta	Aorta
44	chr11:45210400-45225600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:45210400-45226000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:45210400-45226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:45210400-45226200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:45210400-45226200	Weak transcription	Pancreas	Pancrea
49	chr11:45210400-45229600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:45210400-45229600	Weak transcription	Rectal Mucosa Donor 31	rectum

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