Variant report

Variant	rs9561949
Chromosome Location	chr13:96410941-96410942
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	chr13:96327500..96329797-chr13:96408944..96412579,3	K562	blood:

Variant related genes	Relation type
ENSG00000102580	Chromatin interaction
ENSG00000247400	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1596710	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2389530	0.85[EUR][1000 genomes]
rs3099357	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3099358	0.82[EUR][1000 genomes]
rs3099359	0.93[EUR][1000 genomes]
rs3125433	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3125438	0.82[EUR][1000 genomes]
rs34859372	0.90[EUR][1000 genomes]
rs4773927	0.85[EUR][1000 genomes]
rs6492820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7983756	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7994626	0.86[EUR][1000 genomes]
rs7998903	0.88[EUR][1000 genomes]
rs9516620	0.85[EUR][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	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9561949	UGGT2	cis	Muscle Skeletal	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96366400-96415800	Weak transcription	HSMMtube	muscle
2	chr13:96367600-96436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:96367800-96430200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:96386800-96415200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:96386800-96415600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:96387000-96412000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:96387000-96412800	Weak transcription	Dnd41	blood
8	chr13:96387000-96415400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:96387000-96428800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr13:96392800-96413000	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:96393800-96412800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:96393800-96415800	Weak transcription	Osteobl	bone
13	chr13:96394000-96412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:96394000-96415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:96394000-96435800	Weak transcription	A549	lung
16	chr13:96394400-96438400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr13:96394600-96412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:96394600-96413600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:96394600-96413800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:96394600-96435800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:96394800-96412800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr13:96394800-96412800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr13:96394800-96414800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:96394800-96420600	Weak transcription	Esophagus	oesophagus
25	chr13:96395200-96414000	Weak transcription	Fetal Stomach	stomach
26	chr13:96395400-96413000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:96396000-96411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:96396000-96412200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:96396000-96414000	Weak transcription	Lung	lung
30	chr13:96398200-96412400	Weak transcription	HSMM	muscle
31	chr13:96398200-96424400	Weak transcription	NHDF-Ad	bronchial
32	chr13:96398400-96413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:96398400-96415600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr13:96398400-96436200	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:96398400-96439400	Weak transcription	Brain Hippocampus Middle	brain
36	chr13:96400000-96415400	Weak transcription	HepG2	liver
37	chr13:96400200-96413000	Weak transcription	Fetal Intestine Large	intestine
38	chr13:96400200-96413600	Weak transcription	Ovary	ovary
39	chr13:96401800-96413000	Weak transcription	Fetal Thymus	thymus
40	chr13:96403200-96421800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:96404000-96433200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:96404000-96439400	Weak transcription	Thymus	Thymus
43	chr13:96404200-96412400	Weak transcription	Primary B cells from cord blood	blood
44	chr13:96405200-96412200	Weak transcription	Adipose Nuclei	Adipose
45	chr13:96405400-96436800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:96405400-96439400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:96405400-96452600	Weak transcription	Psoas Muscle	Psoas
48	chr13:96405600-96412200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr13:96405600-96455800	Weak transcription	Fetal Heart	heart
50	chr13:96406400-96411600	Weak transcription	Placenta	Placenta

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