Variant report

Variant	rs2766535
Chromosome Location	chr6:35691782-35691783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35674257..35675820-chr6:35690056..35692762,2	K562	blood:
2	chr6:35689928..35692023-chr6:35693949..35695467,2	MCF-7	breast:
3	chr6:35655590..35657957-chr6:35689594..35691867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2766533	0.89[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs2766537	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2817033	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380529	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2766535	MDGA1	cis	cerebellum	SCAN
rs2766535	BRPF3	cis	cerebellum	SCAN
rs2766535	C6orf126	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35687600-35692200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:35687600-35694000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:35688400-35692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:35688400-35693600	Weak transcription	Osteobl	bone
5	chr6:35688400-35693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:35688400-35695000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:35688400-35695000	Enhancers	Right Ventricle	heart
8	chr6:35688600-35692200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:35688600-35692800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:35688600-35693000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:35688600-35693000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:35688600-35693000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:35688600-35693200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:35688600-35693200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:35688600-35693200	Weak transcription	Fetal Kidney	kidney
16	chr6:35688600-35693200	Weak transcription	HSMMtube	muscle
17	chr6:35688600-35693400	Weak transcription	Fetal Lung	lung
18	chr6:35688600-35693600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:35688600-35693600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:35688600-35693600	Weak transcription	NHDF-Ad	bronchial
21	chr6:35688600-35693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:35688600-35694400	Weak transcription	Fetal Brain Female	brain
23	chr6:35688600-35694800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:35688600-35695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:35688800-35691800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:35688800-35691800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:35688800-35692000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:35688800-35692000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:35688800-35692000	Enhancers	Thymus	Thymus
30	chr6:35688800-35692200	Weak transcription	Primary T cells from cord blood	blood
31	chr6:35688800-35692600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:35688800-35692600	Weak transcription	HSMM	muscle
33	chr6:35688800-35692800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:35688800-35693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:35688800-35693000	Weak transcription	NHEK	skin
36	chr6:35688800-35693200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:35688800-35693200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:35688800-35693200	Weak transcription	Fetal Heart	heart
39	chr6:35688800-35693200	Enhancers	Fetal Thymus	thymus
40	chr6:35688800-35693400	Weak transcription	HUVEC	blood vessel
41	chr6:35688800-35694000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:35689000-35692000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:35689000-35692000	Weak transcription	Brain Anterior Caudate	brain
44	chr6:35689000-35692600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:35689000-35693000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:35689200-35693200	Weak transcription	GM12878-XiMat	blood
47	chr6:35689200-35694800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:35689400-35693200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:35689600-35693200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:35689600-35693400	Enhancers	Rectal Mucosa Donor 29	rectum

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