Variant report

Variant	rs2560813
Chromosome Location	chr6:13471990-13471991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
2	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:

Variant related genes	Relation type
ENSG00000145990	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2434395	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs2560760	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs2560788	0.84[LWK][hapmap]
rs2560809	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs2841550	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2841552	0.98[AFR][1000 genomes]
rs9357740	0.88[AFR][1000 genomes]
rs9357741	0.84[AFR][1000 genomes]
rs9370139	0.95[AFR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13452200-13483400	Weak transcription	Gastric	stomach
2	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
3	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
4	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:13455400-13481000	Weak transcription	HUVEC	blood vessel
6	chr6:13462800-13484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:13463200-13481000	Weak transcription	A549	lung
8	chr6:13463400-13476600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:13463600-13473200	Weak transcription	HepG2	liver
10	chr6:13463600-13484400	Weak transcription	Primary T cells from cord blood	blood
11	chr6:13463800-13484600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:13464600-13476400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:13465200-13485000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:13466400-13473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:13466800-13474200	Weak transcription	Hela-S3	cervix
16	chr6:13467000-13478600	Weak transcription	Thymus	Thymus
17	chr6:13467200-13473800	Weak transcription	Primary B cells from cord blood	blood
18	chr6:13467800-13472800	Weak transcription	Fetal Thymus	thymus
19	chr6:13467800-13473400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:13467800-13474800	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:13468000-13472000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:13468000-13473400	Weak transcription	Esophagus	oesophagus
23	chr6:13468200-13472000	Weak transcription	K562	blood
24	chr6:13468200-13474000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:13468200-13474600	Weak transcription	Liver	Liver
26	chr6:13468200-13477000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:13469200-13473600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:13469200-13480000	Weak transcription	Aorta	Aorta
29	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:13469800-13472200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:13470000-13473200	Enhancers	NHDF-Ad	bronchial
32	chr6:13470000-13474200	Enhancers	Right Atrium	heart
33	chr6:13470200-13472000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:13470200-13472000	Enhancers	Brain Germinal Matrix	brain
35	chr6:13470400-13472200	Enhancers	Psoas Muscle	Psoas
36	chr6:13470400-13474600	Enhancers	Right Ventricle	heart
37	chr6:13470600-13474800	Weak transcription	HMEC	breast
38	chr6:13470800-13472400	Enhancers	Brain Anterior Caudate	brain
39	chr6:13470800-13473200	Enhancers	Brain Angular Gyrus	brain
40	chr6:13470800-13473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:13470800-13474000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:13470800-13474800	Enhancers	Spleen	Spleen
43	chr6:13470800-13477400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:13470800-13478800	Weak transcription	NHLF	lung
45	chr6:13470800-13480200	Weak transcription	NH-A	brain
46	chr6:13470800-13483600	Weak transcription	Fetal Stomach	stomach
47	chr6:13471000-13472000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:13471000-13472200	Enhancers	Brain Hippocampus Middle	brain
49	chr6:13471000-13472200	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr6:13471000-13475600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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