Variant report

Variant	rs552932
Chromosome Location	chr11:104838215-104838216
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	chr1:151511788..151512678-chr11:104838165..104838828,2	Hela-S3	cervix:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs473086	0.82[ASN][1000 genomes]
rs474866	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501944	0.82[ASN][1000 genomes]
rs511149	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs518604	0.86[JPT][hapmap]
rs523104	0.93[JPT][hapmap]
rs537093	0.84[CHD][hapmap]
rs540813	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs545744	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs546463	0.82[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560891	0.94[ASN][1000 genomes]
rs564436	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs577625	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs579408	0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs608212	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609092	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs630003	0.82[ASN][1000 genomes]
rs658560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666723	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672016	0.85[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs686999	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104833400-104838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:104833400-104838400	Weak transcription	Fetal Stomach	stomach
3	chr11:104834600-104839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:104836000-104838800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:104836400-104839600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:104836600-104838400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:104836600-104840400	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:104836800-104838400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr11:104836800-104839000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr11:104836800-104840200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:104837000-104838400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:104837000-104839600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:104837000-104840000	Active TSS	Right Ventricle	heart
14	chr11:104837000-104840600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:104837200-104838400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:104837200-104838400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:104837200-104838400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:104837200-104838400	Flanking Active TSS	HUVEC	blood vessel
19	chr11:104837200-104838800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:104837200-104839800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:104837200-104840200	Active TSS	Psoas Muscle	Psoas
22	chr11:104837400-104838400	Weak transcription	Lung	lung
23	chr11:104837400-104838800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:104837400-104839600	Active TSS	GM12878-XiMat	blood
25	chr11:104837400-104839800	Active TSS	NHLF	lung
26	chr11:104837400-104840400	Active TSS	Right Atrium	heart
27	chr11:104837400-104840600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:104837600-104838400	Weak transcription	Esophagus	oesophagus
29	chr11:104837600-104838400	Weak transcription	Gastric	stomach
30	chr11:104837600-104838400	Weak transcription	Pancreas	Pancrea
31	chr11:104837600-104838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:104837600-104838400	Weak transcription	HSMMtube	muscle
33	chr11:104837600-104838800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:104837600-104839000	Weak transcription	Spleen	Spleen
35	chr11:104837600-104839400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr11:104837600-104839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:104837600-104839400	Active TSS	Hela-S3	cervix
38	chr11:104837600-104839400	Active TSS	NHEK	skin
39	chr11:104837600-104839600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:104837600-104839600	Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:104837600-104839600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:104837600-104839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:104837600-104839600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:104837600-104839600	Active TSS	Fetal Intestine Large	intestine
45	chr11:104837600-104839800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:104837600-104839800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:104837600-104839800	Active TSS	Thymus	Thymus
48	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:104837600-104840000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:104837600-104840000	Active TSS	Placenta	Placenta

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