Variant report

Variant	rs17108749
Chromosome Location	chr11:108796817-108796818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108791030..108793676-chr11:108795093..108797855,3	K562	blood:
2	chr11:108791917..108793676-chr11:108795093..108797181,2	K562	blood:
3	chr11:108796329..108798320-chr11:108799460..108801702,2	K562	blood:
4	chr11:108794799..108797753-chr11:108810221..108812207,2	K562	blood:

Variant related genes	Relation type
ENSG00000178105	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11821743	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs17108632	1.00[AMR][1000 genomes]
rs17108645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108736	1.00[MEX][hapmap]
rs41422546	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58119616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558654	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73560832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937025	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas
5	chr11:108778000-108799600	Weak transcription	HMEC	breast
6	chr11:108778200-108810600	Weak transcription	Ovary	ovary
7	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
8	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
9	chr11:108783000-108810600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:108784400-108804000	Weak transcription	K562	blood
11	chr11:108785200-108807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:108786400-108810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:108787000-108810800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:108787200-108799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:108787200-108799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:108787200-108799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:108787400-108810600	Weak transcription	Liver	Liver
19	chr11:108787600-108799400	Weak transcription	NHEK	skin
20	chr11:108787800-108798000	Weak transcription	Fetal Thymus	thymus
21	chr11:108787800-108798000	Weak transcription	HSMMtube	muscle
22	chr11:108788000-108798600	Weak transcription	HSMM	muscle
23	chr11:108788000-108799800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:108788000-108802000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:108788200-108797800	Weak transcription	Osteobl	bone
26	chr11:108790200-108810600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:108791200-108810600	Weak transcription	Dnd41	blood
28	chr11:108791400-108810800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:108791600-108810800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:108792200-108797000	Weak transcription	Fetal Brain Female	brain
31	chr11:108792200-108804600	Weak transcription	Primary B cells from cord blood	blood
32	chr11:108792200-108808600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:108793400-108797200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:108793400-108797600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:108793600-108797600	Weak transcription	NH-A	brain
36	chr11:108794000-108797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:108794400-108797400	Weak transcription	Fetal Heart	heart
38	chr11:108794600-108807800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:108794600-108810000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:108794600-108810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:108794600-108810600	Weak transcription	Aorta	Aorta
42	chr11:108794600-108811800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:108794800-108798600	Weak transcription	HUVEC	blood vessel
44	chr11:108794800-108810600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:108795200-108799000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:108795600-108797000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:108795600-108799400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:108795800-108800400	Enhancers	Fetal Lung	lung
49	chr11:108796000-108797600	Weak transcription	Brain Germinal Matrix	brain
50	chr11:108796200-108797800	Weak transcription	Brain Anterior Caudate	brain

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