Variant report

Variant	rs2560759
Chromosome Location	chr6:13458125-13458126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13450822..13452338-chr6:13457314..13458935,2	K562	blood:
2	chr6:13453145..13455587-chr6:13457422..13460283,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1863995	0.98[EUR][1000 genomes]
rs2560757	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560761	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841560	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2841564	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841565	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13445600-13461800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:13448200-13458200	Enhancers	Colon Smooth Muscle	Colon
4	chr6:13449000-13461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:13451800-13458600	Weak transcription	HepG2	liver
6	chr6:13452000-13462000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:13452200-13483400	Weak transcription	Gastric	stomach
8	chr6:13452400-13460800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:13453400-13461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:13453800-13458800	Enhancers	Left Ventricle	heart
11	chr6:13453800-13459000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:13453800-13459200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:13454000-13458200	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:13454000-13458200	Enhancers	Adipose Nuclei	Adipose
15	chr6:13454000-13458200	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:13454000-13459400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:13454200-13458400	Enhancers	Right Ventricle	heart
18	chr6:13454400-13461800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
20	chr6:13455200-13458800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:13455200-13462600	Weak transcription	Stomach Mucosa	stomach
22	chr6:13455200-13466600	Weak transcription	Pancreas	Pancrea
23	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
24	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:13455400-13458200	Enhancers	Brain Hippocampus Middle	brain
26	chr6:13455400-13462000	Weak transcription	Esophagus	oesophagus
27	chr6:13455400-13462600	Weak transcription	HSMM	muscle
28	chr6:13455400-13463200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:13455400-13481000	Weak transcription	HUVEC	blood vessel
30	chr6:13455600-13459000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:13455600-13462000	Weak transcription	NHDF-Ad	bronchial
32	chr6:13455800-13461200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:13455800-13462000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:13456000-13459400	Enhancers	GM12878-XiMat	blood
35	chr6:13456200-13461400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:13456200-13461400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:13456200-13461400	Weak transcription	Aorta	Aorta
38	chr6:13456200-13461400	Weak transcription	Lung	lung
39	chr6:13456200-13461600	Weak transcription	Primary T cells from cord blood	blood
40	chr6:13456200-13462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:13456200-13462000	Weak transcription	Dnd41	blood
42	chr6:13456200-13463000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:13456200-13463000	Weak transcription	Fetal Brain Female	brain
44	chr6:13456200-13464400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:13456200-13466200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:13456400-13458600	Weak transcription	Fetal Heart	heart
47	chr6:13456400-13461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:13456400-13461800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:13456600-13467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:13456800-13458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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