Variant report

Variant	rs2553784
Chromosome Location	chr11:35071055-35071056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11032980	1.00[ASN][1000 genomes]
rs1477564	1.00[EUR][1000 genomes]
rs1547059	1.00[JPT][hapmap]
rs1547060	1.00[JPT][hapmap]
rs16926653	1.00[MEX][hapmap]
rs2065004	1.00[JPT][hapmap]
rs2114073	1.00[EUR][1000 genomes]
rs2553770	1.00[EUR][1000 genomes]
rs2553781	1.00[EUR][1000 genomes]
rs2732543	1.00[EUR][1000 genomes]
rs426400	1.00[EUR][1000 genomes]
rs500736	0.88[AFR][1000 genomes]
rs587876	1.00[EUR][1000 genomes]
rs7116739	1.00[JPT][hapmap]
rs7117719	1.00[MEX][hapmap]
rs879488	1.00[EUR][1000 genomes]
rs890241	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs890242	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs919039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35061000-35071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:35061800-35072800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:35062800-35071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:35062800-35073600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:35063000-35071600	Weak transcription	K562	blood
6	chr11:35064000-35077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:35064400-35072000	Weak transcription	HSMMtube	muscle
8	chr11:35065200-35073200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:35065400-35072600	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:35065600-35073200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:35067000-35071600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:35067200-35071600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr11:35067400-35071200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:35067400-35071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:35067800-35071600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:35067800-35071800	Enhancers	Primary T cells from cord blood	blood
17	chr11:35068800-35071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:35069400-35074000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:35069600-35071800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:35069600-35074000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:35070000-35072200	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:35070200-35071600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr11:35070400-35071200	ZNF genes & repeats	Fetal Thymus	thymus
24	chr11:35070400-35071800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:35070400-35072000	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:35070400-35072600	Enhancers	Colon Smooth Muscle	Colon
27	chr11:35070600-35073000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:35070600-35078600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:35070600-35087000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:35070800-35071400	Weak transcription	Fetal Intestine Large	intestine
31	chr11:35070800-35071800	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:35070800-35071800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:35070800-35072200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:35070800-35079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:35071000-35071200	Enhancers	Thymus	Thymus
36	chr11:35071000-35071200	ZNF genes & repeats	GM12878-XiMat	blood
37	chr11:35071000-35071400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:35071000-35071400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:35071000-35071400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:35071000-35071400	Weak transcription	Fetal Stomach	stomach
41	chr11:35071000-35073200	Enhancers	Dnd41	blood

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