Variant report

Variant	rs543353
Chromosome Location	chr11:35133648-35133649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35121360..35123846-chr11:35132606..35135309,2	K562	blood:
2	chr11:35129946..35132170-chr11:35133262..35135380,2	K562	blood:
3	chr11:35132300..35135003-chr11:35146023..35147940,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2553808	0.81[JPT][hapmap]
rs2553809	0.81[JPT][hapmap]
rs2732567	0.88[ASN][1000 genomes]
rs2732571	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs353558	0.81[JPT][hapmap]
rs353581	0.88[ASN][1000 genomes]
rs353582	0.88[CHB][hapmap]
rs385360	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404977	0.84[ASN][1000 genomes]
rs438047	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs474094	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507230	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	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	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
3	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
4	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
5	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
6	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
7	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
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35126800-35134000	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:35127000-35133800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:35127000-35134600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:35127600-35134000	Enhancers	GM12878-XiMat	blood
5	chr11:35128400-35135800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:35128600-35134000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr11:35131000-35139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:35131200-35134000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:35131400-35133800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:35131400-35134000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:35131400-35134000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:35131600-35135000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:35131800-35134000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:35131800-35134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:35132000-35134000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:35132000-35134000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:35132000-35134000	Enhancers	Spleen	Spleen
18	chr11:35132200-35133800	Enhancers	Primary T cells from cord blood	blood
19	chr11:35132200-35133800	Enhancers	NHDF-Ad	bronchial
20	chr11:35132200-35134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:35132200-35134000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:35132200-35134000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:35132200-35134000	Enhancers	Esophagus	oesophagus
24	chr11:35132200-35134000	Enhancers	HSMMtube	muscle
25	chr11:35132200-35134000	Enhancers	HUVEC	blood vessel
26	chr11:35132200-35134600	Enhancers	Stomach Mucosa	stomach
27	chr11:35132400-35133800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:35132400-35133800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:35132400-35133800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:35132400-35134000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:35132400-35134000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:35132400-35134000	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:35132400-35134000	Enhancers	Hela-S3	cervix
34	chr11:35132400-35134000	Enhancers	K562	blood
35	chr11:35132600-35133800	Enhancers	Fetal Muscle Leg	muscle
36	chr11:35132600-35134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:35132600-35134000	Enhancers	Fetal Thymus	thymus
38	chr11:35132600-35134000	Enhancers	Pancreas	Pancrea
39	chr11:35132600-35134600	Flanking Active TSS	NHEK	skin
40	chr11:35132600-35139600	Enhancers	Fetal Stomach	stomach
41	chr11:35132800-35133800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:35132800-35134000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:35132800-35134000	Enhancers	NH-A	brain
44	chr11:35132800-35135800	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:35133000-35138200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:35133200-35133800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:35133200-35133800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:35133200-35134000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:35133200-35134000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:35133200-35134200	Enhancers	HSMM	muscle

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