Variant report

Variant	rs11992284
Chromosome Location	chr8:48624605-48624606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11998024	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998292	0.85[AMR][1000 genomes]
rs2087494	1.00[AMR][1000 genomes]
rs2087655	0.83[AMR][1000 genomes]
rs41528455	0.83[AMR][1000 genomes]
rs61735903	0.83[AMR][1000 genomes]
rs6996090	0.83[AMR][1000 genomes]
rs7001666	0.83[AMR][1000 genomes]
rs7009817	0.83[AMR][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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48590600-48625200	Weak transcription	HepG2	liver
2	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:48597200-48647200	Weak transcription	NHEK	skin
4	chr8:48597200-48647400	Weak transcription	HMEC	breast
5	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
6	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
8	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
10	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:48610400-48625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:48610600-48625000	Weak transcription	Fetal Thymus	thymus
13	chr8:48610600-48625400	Weak transcription	Brain Germinal Matrix	brain
14	chr8:48610600-48625400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:48610600-48625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:48610800-48625400	Weak transcription	NHLF	lung
17	chr8:48611000-48625400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:48611400-48625200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:48611800-48625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:48611800-48632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:48612000-48625800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:48612000-48647400	Weak transcription	NH-A	brain
23	chr8:48612400-48625400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:48613000-48625400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:48613200-48625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:48613600-48632200	Weak transcription	Fetal Brain Female	brain
28	chr8:48613600-48636600	Weak transcription	NHDF-Ad	bronchial
29	chr8:48613600-48647200	Weak transcription	A549	lung
30	chr8:48613800-48625200	Weak transcription	Ovary	ovary
31	chr8:48613800-48625200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:48613800-48625600	Weak transcription	Brain Anterior Caudate	brain
33	chr8:48614200-48626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:48614600-48627400	Weak transcription	GM12878-XiMat	blood
35	chr8:48615000-48625000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:48615000-48625600	Weak transcription	Placenta	Placenta
37	chr8:48615400-48632600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:48615600-48625200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:48615600-48625400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:48615600-48625400	Weak transcription	Aorta	Aorta
41	chr8:48615600-48625400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:48615600-48625400	Weak transcription	Colonic Mucosa	Colon
43	chr8:48615600-48625400	Weak transcription	Right Ventricle	heart
44	chr8:48615800-48626000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:48615800-48627800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:48615800-48634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:48616000-48625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:48616200-48625400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:48616400-48632600	Weak transcription	Fetal Brain Male	brain
50	chr8:48616600-48625400	Weak transcription	Liver	Liver

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