Variant report

Variant	rs4448323
Chromosome Location	chr8:1913747-1913748
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	chr8:1907491..1909196-chr8:1911477..1913920,2	K562	blood:
2	chr8:1911383..1914358-chr8:1918883..1921800,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253764	Chromatin interaction
ENSG00000253696	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11136449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs14375	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs4876266	0.82[YRI][hapmap]
rs6558566	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs6982208	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6984792	1.00[CEU][hapmap]
rs7012265	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9644316	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv889739	chr8:1898547-1918352	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv524631	chr8:1907855-1916144	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv525036	chr8:1910658-1918352	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1905600-1921000	Weak transcription	Aorta	Aorta
2	chr8:1905800-1916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:1906000-1914200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:1906600-1914200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:1906600-1914200	Weak transcription	Colonic Mucosa	Colon
6	chr8:1906600-1914600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:1906600-1921000	Weak transcription	Right Ventricle	heart
8	chr8:1907000-1914200	Weak transcription	Left Ventricle	heart
9	chr8:1907000-1914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:1907200-1916000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:1908600-1913800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:1908600-1915000	Weak transcription	Right Atrium	heart
13	chr8:1908600-1915600	Weak transcription	A549	lung
14	chr8:1908800-1914000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:1909000-1919000	Weak transcription	Fetal Kidney	kidney
16	chr8:1909400-1913800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:1910000-1914200	Weak transcription	Fetal Intestine Large	intestine
18	chr8:1910400-1915200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr8:1910800-1914000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:1911600-1914000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:1911600-1914400	Weak transcription	Gastric	stomach
22	chr8:1911600-1919200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:1911800-1913800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:1912000-1913800	Weak transcription	HSMMtube	muscle
25	chr8:1912000-1914000	Weak transcription	HSMM	muscle
26	chr8:1912000-1914200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:1912000-1914200	Weak transcription	Osteobl	bone
28	chr8:1912000-1914400	Weak transcription	Psoas Muscle	Psoas
29	chr8:1912000-1914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:1912000-1920600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:1912200-1914200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:1912200-1914600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:1912200-1918800	Weak transcription	Liver	Liver
34	chr8:1912200-1920800	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:1912400-1915200	Enhancers	Fetal Lung	lung
36	chr8:1912600-1914800	Weak transcription	Fetal Brain Female	brain
37	chr8:1913000-1914600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr8:1913200-1914600	Weak transcription	Fetal Brain Male	brain
39	chr8:1913200-1915200	Enhancers	Spleen	Spleen
40	chr8:1913400-1916200	Enhancers	Placenta	Placenta
41	chr8:1913600-1915600	Enhancers	Lung	lung
42	chr8:1913600-1916600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:1913600-1921200	Weak transcription	Esophagus	oesophagus

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