Variant report

Variant	rs615750
Chromosome Location	chr11:107435192-107435193
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10749905	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs507090	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537133	0.86[EUR][1000 genomes]
rs582119	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs584192	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs594766	0.89[EUR][1000 genomes]
rs631376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs615750	ELMOD1	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
2	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:107399800-107435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:107408200-107435800	Weak transcription	Gastric	stomach
5	chr11:107421400-107435800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:107421600-107435400	Weak transcription	Thymus	Thymus
7	chr11:107421600-107435800	Weak transcription	Spleen	Spleen
8	chr11:107424800-107435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:107430400-107435600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:107430600-107435600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:107431200-107435600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:107431800-107435400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:107431800-107435400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:107432000-107435400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:107432400-107435400	Enhancers	HUVEC	blood vessel
16	chr11:107432800-107435600	Enhancers	Hela-S3	cervix
17	chr11:107433200-107435400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:107433400-107435400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:107433600-107435200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:107433600-107435400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:107433800-107435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:107433800-107435400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:107433800-107435600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:107433800-107435600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:107433800-107435600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:107434000-107435200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:107434200-107435200	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:107434200-107435400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:107434200-107435600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:107434200-107435600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:107434200-107435800	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:107434400-107435400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:107434400-107435400	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:107434400-107435600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:107434400-107435600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:107434400-107435600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:107434400-107435600	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:107434400-107435600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:107434400-107435600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:107434400-107435600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:107434400-107435600	Enhancers	Colon Smooth Muscle	Colon
42	chr11:107434400-107436000	Flanking Active TSS	Dnd41	blood
43	chr11:107434600-107435200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:107434600-107435200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:107434600-107435200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:107434600-107435200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:107434600-107435400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:107434600-107435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:107434600-107435400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:107434600-107435400	Enhancers	Liver	Liver

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