Variant report

Variant	rs2800473
Chromosome Location	chr10:38647171-38647172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17611180	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892144	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2145672	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2754353	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754363	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2754366	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2754370	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754493	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2754495	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2800551	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2800552	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2800555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804622	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804623	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804624	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2804631	0.80[ASN][1000 genomes]
rs2804637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2804638	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2804639	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2804641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804643	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804677	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4934948	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61837215	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6482064	0.85[AFR][1000 genomes]
rs9418368	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2800473	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL
rs2800473	HSD17B7P2	cis	Whole Blood	GTEx
rs2800473	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38644600-38647800	Active TSS	GM12878-XiMat	blood
2	chr10:38645200-38647200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
3	chr10:38645600-38655200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:38645600-38660000	Weak transcription	Spleen	Spleen
5	chr10:38645600-38660200	Weak transcription	Aorta	Aorta
6	chr10:38645600-38661600	Weak transcription	Small Intestine	intestine
7	chr10:38645800-38647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:38645800-38648000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:38645800-38660000	Weak transcription	Esophagus	oesophagus
10	chr10:38645800-38660000	Weak transcription	Gastric	stomach
11	chr10:38645800-38660000	Weak transcription	Pancreas	Pancrea
12	chr10:38645800-38661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:38645800-38662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:38645800-38662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:38645800-38669000	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:38646000-38647600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:38646000-38647800	Weak transcription	Fetal Thymus	thymus
18	chr10:38646000-38649600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr10:38646000-38653200	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:38646000-38653200	Weak transcription	A549	lung
21	chr10:38646000-38653800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr10:38646000-38654400	Weak transcription	Lung	lung
23	chr10:38646000-38655000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:38646000-38655000	Weak transcription	Brain Germinal Matrix	brain
25	chr10:38646000-38655000	Weak transcription	Thymus	Thymus
26	chr10:38646000-38655400	Weak transcription	Fetal Intestine Large	intestine
27	chr10:38646000-38656000	Weak transcription	Left Ventricle	heart
28	chr10:38646000-38660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:38646000-38660000	Weak transcription	Ovary	ovary
30	chr10:38646000-38661600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr10:38646000-38661800	Weak transcription	HSMM	muscle
32	chr10:38646000-38662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:38646000-38665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:38646000-38670600	Weak transcription	Fetal Stomach	stomach
35	chr10:38646200-38647400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr10:38646200-38647400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:38646200-38648000	Weak transcription	Adipose Nuclei	Adipose
38	chr10:38646200-38651000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr10:38646200-38653800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:38646200-38653800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:38646200-38653800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:38646200-38657200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:38646200-38658400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr10:38646200-38660000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:38646200-38660200	Weak transcription	Brain Anterior Caudate	brain
46	chr10:38646200-38662400	Weak transcription	Osteobl	bone
47	chr10:38646200-38667000	Weak transcription	Fetal Intestine Small	intestine
48	chr10:38646200-38669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:38646200-38669200	Weak transcription	Right Ventricle	heart
50	chr10:38646400-38647200	Weak transcription	H9 Cell Line	embryonic stem cell

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