Variant report

Variant	rs7321706
Chromosome Location	chr13:49895612-49895613
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	chr13:49888284..49892411-chr13:49892733..49897441,5	K562	blood:
2	chr13:49877297..49879495-chr13:49894000..49896980,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1407826	1.00[EUR][1000 genomes]
rs17072837	0.87[ASN][1000 genomes]
rs1983806	0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs2181906	1.00[EUR][1000 genomes]
rs3990408	0.91[ASN][1000 genomes]
rs60882749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561495	1.00[EUR][1000 genomes]
rs6561498	0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs6561516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7326409	1.00[EUR][1000 genomes]
rs7338704	1.00[EUR][1000 genomes]
rs74074564	1.00[ASN][1000 genomes]
rs7999767	0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs912547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9526548	0.83[ASN][1000 genomes]
rs9535196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49880600-49896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:49881800-49906800	Weak transcription	Fetal Brain Male	brain
4	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:49884800-49903800	Weak transcription	Fetal Brain Female	brain
6	chr13:49884800-49914200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
8	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
9	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
10	chr13:49888400-49903800	Weak transcription	Right Ventricle	heart
11	chr13:49888400-49904000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:49888400-49922200	Weak transcription	Gastric	stomach
13	chr13:49888600-49897200	Weak transcription	Fetal Stomach	stomach
14	chr13:49888600-49905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:49888600-49922200	Weak transcription	Lung	lung
16	chr13:49888800-49903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:49888800-49905400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:49888800-49908800	Weak transcription	Fetal Intestine Large	intestine
19	chr13:49889000-49896200	Weak transcription	Fetal Heart	heart
20	chr13:49889000-49896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
22	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:49889200-49897200	Weak transcription	Aorta	Aorta
24	chr13:49889200-49900000	Weak transcription	Colonic Mucosa	Colon
25	chr13:49889200-49919400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
27	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr13:49889600-49900200	Weak transcription	Right Atrium	heart
29	chr13:49889600-49914200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:49889600-49914400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:49889600-49914400	Weak transcription	Small Intestine	intestine
32	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:49891800-49922000	Weak transcription	Left Ventricle	heart
34	chr13:49893600-49895800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:49893600-49895800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:49893800-49895800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr13:49894000-49895800	Enhancers	Ovary	ovary
38	chr13:49894400-49905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:49894600-49897000	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:49894600-49910400	Weak transcription	Adipose Nuclei	Adipose
41	chr13:49894800-49904000	Weak transcription	HSMMtube	muscle
42	chr13:49895000-49895800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr13:49895000-49895800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:49895000-49897000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:49895000-49916400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:49895000-49927600	Weak transcription	NHLF	lung
47	chr13:49895200-49896800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:49895200-49910800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:49895200-49914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:49895400-49898200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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