Variant report

Variant	rs2812694
Chromosome Location	chr6:80283854-80283855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80246800..80248372-chr6:80281898..80284016,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-5	chr6:80283594-80285247	NONHSAT113706

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1394288	1.00[AMR][1000 genomes]
rs1809972	1.00[AMR][1000 genomes]
rs1827627	1.00[AMR][1000 genomes]
rs2134855	1.00[AMR][1000 genomes]
rs2492383	1.00[AMR][1000 genomes]
rs2492384	1.00[AMR][1000 genomes]
rs2655661	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2655682	1.00[AMR][1000 genomes]
rs2655690	0.90[AFR][1000 genomes]
rs2812685	1.00[AMR][1000 genomes]
rs2812693	1.00[AMR][1000 genomes]
rs2814377	1.00[AMR][1000 genomes]
rs905713	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80278000-80287400	Weak transcription	Small Intestine	intestine
2	chr6:80279400-80287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:80279800-80284600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:80280600-80284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:80280800-80284000	Weak transcription	Osteobl	bone
6	chr6:80280800-80285200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:80281000-80284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:80281000-80284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:80281000-80284000	Weak transcription	NHDF-Ad	bronchial
10	chr6:80281000-80284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:80281000-80284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:80281000-80284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:80281000-80284400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:80281000-80284400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:80281000-80284400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:80281000-80284400	Weak transcription	HMEC	breast
17	chr6:80281000-80284400	Weak transcription	NHEK	skin
18	chr6:80281000-80284800	Weak transcription	Ovary	ovary
19	chr6:80281000-80309600	Weak transcription	Brain Angular Gyrus	brain
20	chr6:80281200-80287400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:80281200-80289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:80282000-80284400	Weak transcription	Stomach Mucosa	stomach
23	chr6:80282600-80284800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:80283000-80285000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:80283200-80284800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:80283400-80284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:80283400-80285000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:80283400-80285000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:80283400-80285000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:80283600-80284000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:80283600-80284000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:80283600-80285000	Enhancers	HepG2	liver
33	chr6:80283600-80285000	Enhancers	NH-A	brain
34	chr6:80283800-80284800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:80283800-80284800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:80283800-80284800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:80283800-80285000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:80283800-80285000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:80283800-80285000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:80283800-80285000	Enhancers	HSMM	muscle
41	chr6:80283800-80285000	Enhancers	HUVEC	blood vessel

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