Variant report

Variant	rs631376
Chromosome Location	chr11:107434029-107434030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107431365..107434190-chr11:107435948..107438172,3	K562	blood:
2	chr11:107421430..107424256-chr11:107432325..107434776,3	K562	blood:

Variant related genes	Relation type
ENSG00000137760	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10749905	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1943684	0.80[EUR][1000 genomes]
rs507090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537133	0.89[EUR][1000 genomes]
rs582119	0.92[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs584192	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs594766	0.90[EUR][1000 genomes]
rs615750	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	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[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
rs631376	ELMOD1	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 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	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
3	chr11:107376600-107434600	Weak transcription	Lung	lung
4	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
5	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:107399800-107435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:107401200-107434200	Weak transcription	Fetal Brain Female	brain
10	chr11:107403000-107434600	Weak transcription	Fetal Thymus	thymus
11	chr11:107407200-107434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:107408000-107434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:107408200-107435800	Weak transcription	Gastric	stomach
14	chr11:107409600-107434600	Weak transcription	HepG2	liver
15	chr11:107416200-107434600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:107419600-107434600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:107421400-107434600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:107421400-107435800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:107421600-107434400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:107421600-107434600	Weak transcription	Aorta	Aorta
21	chr11:107421600-107434600	Weak transcription	Esophagus	oesophagus
22	chr11:107421600-107434600	Weak transcription	Right Ventricle	heart
23	chr11:107421600-107434800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:107421600-107435400	Weak transcription	Thymus	Thymus
25	chr11:107421600-107435800	Weak transcription	Spleen	Spleen
26	chr11:107421800-107434400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:107421800-107434600	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:107421800-107434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:107422200-107434600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:107422200-107434600	Weak transcription	Brain Substantia Nigra	brain
31	chr11:107422200-107434600	Weak transcription	Fetal Stomach	stomach
32	chr11:107422200-107434600	Weak transcription	Ovary	ovary
33	chr11:107422400-107434600	Weak transcription	Fetal Intestine Small	intestine
34	chr11:107424400-107434400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:107424400-107434600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:107424800-107435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:107425000-107434600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:107425000-107434800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:107425400-107434600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:107425800-107434400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:107426200-107434200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:107426200-107434600	Weak transcription	Left Ventricle	heart
43	chr11:107426600-107434600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:107427000-107434400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:107427400-107434600	Weak transcription	Liver	Liver
46	chr11:107427600-107434400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:107429400-107434600	Weak transcription	Brain Anterior Caudate	brain
48	chr11:107430400-107434600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:107430400-107434600	Weak transcription	Fetal Intestine Large	intestine
50	chr11:107430400-107435600	Weak transcription	Fetal Muscle Trunk	muscle

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