Variant report

Variant	rs535643
Chromosome Location	chr11:35130011-35130012
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35123473..35125204-chr11:35129634..35132229,2	MCF-7	breast:
2	chr11:35129946..35132170-chr11:35133262..35135380,2	K562	blood:

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

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

rs_ID	r²[population]
rs10488808	0.89[ASN][1000 genomes]
rs11826767	0.89[ASN][1000 genomes]
rs12419007	1.00[EUR][1000 genomes]
rs2553814	0.94[ASN][1000 genomes]
rs2732575	0.89[ASN][1000 genomes]
rs2732577	0.98[ASN][1000 genomes]
rs2785179	0.89[ASN][1000 genomes]
rs353562	0.89[ASN][1000 genomes]
rs353564	0.91[ASN][1000 genomes]
rs353569	0.89[ASN][1000 genomes]
rs353575	0.89[ASN][1000 genomes]
rs353576	0.89[ASN][1000 genomes]
rs353578	0.89[ASN][1000 genomes]
rs395563	0.89[ASN][1000 genomes]
rs444900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449670	0.89[ASN][1000 genomes]
rs497210	0.89[ASN][1000 genomes]
rs60760313	0.81[ASN][1000 genomes]
rs627819	0.89[ASN][1000 genomes]
rs634096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655820	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs837512	0.98[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35122400-35132600	Weak transcription	Right Ventricle	heart
2	chr11:35123000-35132200	Weak transcription	Lung	lung
3	chr11:35123000-35132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:35123000-35132600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:35125800-35131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:35126000-35131000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:35126400-35133600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:35126800-35130200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:35126800-35134000	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:35127000-35130800	Enhancers	Fetal Thymus	thymus
11	chr11:35127000-35132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:35127000-35133800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:35127000-35134600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:35127200-35130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:35127200-35132200	Weak transcription	Adipose Nuclei	Adipose
16	chr11:35127400-35131400	Weak transcription	HSMM	muscle
17	chr11:35127400-35132200	Weak transcription	HSMMtube	muscle
18	chr11:35127400-35132200	Weak transcription	NHDF-Ad	bronchial
19	chr11:35127400-35132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:35127400-35132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:35127400-35132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:35127400-35132800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:35127600-35131000	Weak transcription	HMEC	breast
24	chr11:35127600-35132200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:35127600-35132200	Weak transcription	Left Ventricle	heart
26	chr11:35127600-35132200	Weak transcription	Right Atrium	heart
27	chr11:35127600-35132400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:35127600-35133600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:35127600-35134000	Enhancers	GM12878-XiMat	blood
30	chr11:35127800-35132600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:35128000-35130400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:35128000-35132200	Weak transcription	Esophagus	oesophagus
33	chr11:35128000-35132400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:35128400-35132600	Weak transcription	Pancreas	Pancrea
35	chr11:35128400-35135800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:35128600-35130800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:35128600-35133600	Enhancers	Primary B cells from cord blood	blood
38	chr11:35128600-35134000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:35128800-35131400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:35129000-35130200	Enhancers	Primary T cells from cord blood	blood
41	chr11:35129000-35132000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:35129000-35132200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:35129000-35132400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:35129000-35132600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:35129200-35132200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:35129400-35132000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:35129400-35132600	Weak transcription	Dnd41	blood
48	chr11:35129600-35131000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:35129600-35131400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:35129600-35132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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