Variant report

Variant	rs11657449
Chromosome Location	chr17:38057841-38057842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38056492..38058722-chr17:38059385..38061369,2	K562	blood:
2	chr17:38056453..38058896-chr17:38061542..38063417,2	K562	blood:
3	chr17:38054884..38058722-chr17:38059385..38063042,6	K562	blood:
4	chr17:38057190..38061550-chr17:38073399..38075666,3	K562	blood:

Variant related genes	Relation type
ENSG00000073605	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12150079	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62066988	0.81[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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11657449	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs11657449	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38046000-38059800	Weak transcription	Liver	Liver
2	chr17:38047400-38059200	Weak transcription	Primary T cells from cord blood	blood
3	chr17:38049200-38059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:38049200-38075400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:38051000-38059000	Weak transcription	Thymus	Thymus
6	chr17:38051200-38059400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:38051400-38059400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr17:38051400-38059800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:38051600-38059000	Weak transcription	Fetal Thymus	thymus
10	chr17:38051600-38059600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:38052000-38059800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr17:38052400-38059400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:38052600-38074200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:38052800-38058800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:38053000-38061200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:38053200-38061000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:38055400-38059200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:38055600-38077400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:38055800-38059800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:38056000-38061000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:38056200-38065400	Weak transcription	Placenta	Placenta
22	chr17:38056400-38060400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:38056600-38059600	Weak transcription	Osteobl	bone
24	chr17:38056800-38061400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:38056800-38064000	Weak transcription	Brain Angular Gyrus	brain
26	chr17:38056800-38074600	Weak transcription	NH-A	brain
27	chr17:38057000-38059800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:38057000-38068800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:38057200-38059000	Weak transcription	Fetal Stomach	stomach
30	chr17:38057200-38060600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:38057200-38074400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:38057400-38075400	Weak transcription	HSMM	muscle
33	chr17:38057600-38058400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr17:38057600-38076600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:38057800-38059400	Weak transcription	Fetal Muscle Leg	muscle
36	chr17:38057800-38060000	Weak transcription	Fetal Intestine Small	intestine
37	chr17:38057800-38061600	Weak transcription	Spleen	Spleen
38	chr17:38057800-38077600	Weak transcription	Muscle Satellite Cultured Cells	--

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