Variant report

Variant	rs2553794
Chromosome Location	chr11:35053817-35053818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35052336..35054064-chr11:35054789..35057693,2	K562	blood:
2	chr11:35052321..35054037-chr11:35088777..35091263,2	K562	blood:
3	chr11:35050379..35055023-chr11:35058548..35063780,5	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1035731	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1425804	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1477562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1559756	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433161	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433162	0.81[AMR][1000 genomes]
rs2467603	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2469910	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553787	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553789	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553790	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553792	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553795	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553797	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553800	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553801	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553802	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553803	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553805	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553806	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732520	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732522	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2732524	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2732526	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732527	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732528	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732529	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2785153	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785154	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2785155	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785156	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2785157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785160	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785161	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785162	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785163	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785166	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785167	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2785168	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2785169	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs471450	0.82[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs496623	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs497476	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs532282	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs536864	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs603820	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs622235	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663993	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs666197	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs678137	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7479679	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2553794	EHF	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35039800-35059200	Weak transcription	Pancreas	Pancrea
2	chr11:35049600-35054800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:35050600-35054400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:35051000-35055400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:35051200-35054200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:35051200-35055400	Enhancers	Primary T cells from cord blood	blood
7	chr11:35051200-35056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:35051400-35054000	Enhancers	NHLF	lung
9	chr11:35051600-35054000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:35051600-35054200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:35051600-35054200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:35051600-35054600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:35051600-35054600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:35051600-35055400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:35051600-35055400	Enhancers	Placenta	Placenta
16	chr11:35051800-35055600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:35052000-35054400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:35052200-35055000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:35052200-35055400	Enhancers	HMEC	breast
20	chr11:35052200-35056400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:35052200-35056600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:35052400-35061800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:35052600-35054000	Enhancers	NH-A	brain
24	chr11:35052600-35055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:35052600-35055400	Enhancers	GM12878-XiMat	blood
26	chr11:35052800-35054000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:35052800-35054000	Enhancers	Osteobl	bone
28	chr11:35052800-35054400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:35052800-35054400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:35052800-35054600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:35052800-35054600	Enhancers	NHDF-Ad	bronchial
32	chr11:35052800-35055200	Enhancers	NHEK	skin
33	chr11:35052800-35057000	Weak transcription	Aorta	Aorta
34	chr11:35052800-35061800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:35052800-35066800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:35053000-35054000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:35053000-35054000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:35053000-35054000	Enhancers	A549	lung
39	chr11:35053000-35055800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:35053000-35056000	Enhancers	K562	blood
41	chr11:35053000-35056200	Enhancers	Hela-S3	cervix
42	chr11:35053000-35056400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:35053000-35057000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:35053000-35057800	Weak transcription	Psoas Muscle	Psoas
45	chr11:35053000-35060600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:35053000-35062000	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:35053200-35056800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:35053200-35057000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:35053200-35057000	Weak transcription	HSMMtube	muscle
50	chr11:35053200-35061800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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