Variant report

Variant	rs11717285
Chromosome Location	chr3:142891007-142891008
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	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
2	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:

Variant related genes	Relation type
ENSG00000244171	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4361251	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4683752	0.81[AMR][1000 genomes]
rs9647323	0.89[ASN][1000 genomes]
rs967846	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:142884200-142891200	Enhancers	K562	blood
4	chr3:142886800-142891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:142887600-142891400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:142887800-142891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142887800-142891800	Enhancers	Primary B cells from cord blood	blood
8	chr3:142888000-142891200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:142888200-142891400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:142888200-142891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:142888600-142891600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr3:142888600-142891800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:142889000-142891400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:142889000-142891400	Enhancers	NH-A	brain
15	chr3:142889000-142891400	Enhancers	Osteobl	bone
16	chr3:142889000-142891600	Enhancers	Fetal Kidney	kidney
17	chr3:142889000-142891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:142889200-142891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:142889200-142891600	Enhancers	Fetal Muscle Leg	muscle
20	chr3:142889200-142891800	Enhancers	Fetal Stomach	stomach
21	chr3:142889200-142891800	Enhancers	NHLF	lung
22	chr3:142889400-142891200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:142889400-142891200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:142889600-142891400	Enhancers	NHDF-Ad	bronchial
25	chr3:142889600-142891600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr3:142889600-142891800	Flanking Active TSS	Fetal Thymus	thymus
27	chr3:142889800-142892000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:142890000-142891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:142890000-142891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:142890000-142892000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:142890200-142891200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:142890200-142891400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:142890200-142891600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:142890200-142891800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:142890200-142892000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr3:142890400-142892000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr3:142890600-142891200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:142890600-142891800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:142890600-142892000	Flanking Active TSS	Dnd41	blood
42	chr3:142890800-142891200	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:142890800-142891600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr3:142890800-142891800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr3:142891000-142891200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:142891000-142891200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:142891000-142891200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr3:142891000-142891400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr3:142891000-142891800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:142891000-142891800	Flanking Active TSS	Fetal Lung	lung

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