Variant report

Variant	rs10768113
Chromosome Location	chr11:4629210-4629211
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	chr11:4625479..4627156-chr11:4627233..4629279,2	K562	blood:
2	chr11:4619365..4621558-chr11:4626252..4629277,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1000071	1.00[GIH][hapmap];0.90[MEX][hapmap]
rs10500606	1.00[CEU][hapmap]
rs10768130	0.88[EUR][1000 genomes]
rs11033015	1.00[EUR][1000 genomes]
rs11033044	0.90[EUR][1000 genomes]
rs11033047	0.90[EUR][1000 genomes]
rs11033082	0.93[EUR][1000 genomes]
rs1122778	1.00[GIH][hapmap]
rs16917882	0.83[EUR][1000 genomes]
rs17221921	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2231978	1.00[CEU][hapmap]
rs3844036	0.93[EUR][1000 genomes]
rs3861787	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs3861788	0.88[EUR][1000 genomes]
rs3861789	0.88[EUR][1000 genomes]
rs4622249	0.93[EUR][1000 genomes]
rs4910650	1.00[CEU][hapmap]
rs4910652	1.00[CEU][hapmap]
rs56113312	0.93[EUR][1000 genomes]
rs61218021	0.83[EUR][1000 genomes]
rs61997187	0.83[EUR][1000 genomes]
rs61997192	0.83[EUR][1000 genomes]
rs62622512	0.83[EUR][1000 genomes]
rs7108599	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs7116002	0.82[CEU][hapmap]
rs74052453	0.83[EUR][1000 genomes]
rs74052458	0.88[EUR][1000 genomes]
rs74052459	0.88[EUR][1000 genomes]
rs74052461	0.88[EUR][1000 genomes]
rs74052462	0.88[EUR][1000 genomes]
rs74052463	0.88[EUR][1000 genomes]
rs74052479	0.81[EUR][1000 genomes]
rs7928788	1.00[CEU][hapmap]
rs7950390	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7951206	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs986537	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv540927	chr11:4628274-4639254	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv540928	chr11:4628274-4647615	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv540929	chr11:4628274-4669343	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10768113	MYO1B	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4627800-4629400	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr11:4628000-4630000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:4628000-4630000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:4628000-4630000	Active TSS	Stomach Mucosa	stomach
5	chr11:4628200-4629800	Active TSS	Lung	lung
6	chr11:4628200-4629800	Active TSS	Ovary	ovary
7	chr11:4628200-4630000	Active TSS	Aorta	Aorta
8	chr11:4628200-4630000	Active TSS	Right Ventricle	heart
9	chr11:4628400-4629600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:4628400-4629600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:4628400-4629600	Active TSS	Fetal Thymus	thymus
12	chr11:4628400-4629800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:4628400-4629800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:4628400-4629800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:4628400-4629800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:4628400-4629800	Active TSS	Fetal Stomach	stomach
17	chr11:4628400-4629800	Active TSS	Left Ventricle	heart
18	chr11:4628400-4630000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:4628400-4630000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:4628400-4630000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:4628400-4630000	Active TSS	Brain Germinal Matrix	brain
22	chr11:4628400-4630000	Active TSS	Fetal Brain Female	brain
23	chr11:4628400-4630000	Active TSS	Right Atrium	heart
24	chr11:4628400-4630400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:4628600-4629400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:4628600-4629400	Active TSS	Small Intestine	intestine
27	chr11:4628600-4629600	Active TSS	Primary T cells fromperipheralblood	blood
28	chr11:4628600-4629600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr11:4628600-4629600	Active TSS	Fetal Muscle Leg	muscle
30	chr11:4628600-4629600	Active TSS	Placenta	Placenta
31	chr11:4628600-4629600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:4628600-4629600	Active TSS	GM12878-XiMat	blood
33	chr11:4628600-4629600	Active TSS	HMEC	breast
34	chr11:4628600-4629600	Active TSS	K562	blood
35	chr11:4628600-4629800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:4628600-4629800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:4628600-4629800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:4628600-4629800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:4628600-4629800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:4628600-4629800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:4628600-4629800	Active TSS	Colon Smooth Muscle	Colon
42	chr11:4628600-4629800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:4628600-4629800	Active TSS	Fetal Intestine Large	intestine
44	chr11:4628600-4629800	Active TSS	Fetal Intestine Small	intestine
45	chr11:4628600-4629800	Active TSS	Fetal Muscle Trunk	muscle
46	chr11:4628600-4629800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr11:4628600-4629800	Active TSS	Psoas Muscle	Psoas
48	chr11:4628600-4629800	Active TSS	NH-A	brain
49	chr11:4628600-4629800	Active TSS	NHDF-Ad	bronchial
50	chr11:4628600-4629800	Active TSS	NHLF	lung

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