Variant report

Variant	rs6999420
Chromosome Location	chr8:98992980-98992981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98985735..98990217-chr8:98991050..98995817,5	K562	blood:
2	chr8:98991788..98993846-chr8:99008923..99010508,2	MCF-7	breast:
3	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16896503	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7012788	0.85[AMR][1000 genomes]
rs7821341	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
2	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:98980200-98994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:98982800-98994000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:98983000-98994000	Weak transcription	Left Ventricle	heart
6	chr8:98985600-98993600	Weak transcription	Brain Angular Gyrus	brain
7	chr8:98985600-98993600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:98985600-98993800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:98985600-98995800	Weak transcription	A549	lung
10	chr8:98986000-98993800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
13	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
14	chr8:98989200-98997200	Weak transcription	Liver	Liver
15	chr8:98990200-98993600	Weak transcription	Ovary	ovary
16	chr8:98990400-98994000	Weak transcription	Fetal Intestine Large	intestine
17	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:98990800-98993800	Weak transcription	Gastric	stomach
19	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:98991000-98993200	Weak transcription	Placenta	Placenta
21	chr8:98991000-98993400	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:98991000-98994000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:98991000-98994200	Enhancers	NHDF-Ad	bronchial
24	chr8:98991000-98997800	Enhancers	Osteobl	bone
25	chr8:98991200-98993000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:98991200-98994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:98991200-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:98991400-98993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:98991400-98993200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:98991400-98994400	Enhancers	NH-A	brain
31	chr8:98991400-98994600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:98991600-98993200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:98991600-98994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:98991600-98994400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:98991600-98994400	Enhancers	HSMM	muscle
36	chr8:98991800-98993400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:98992000-98993600	Strong transcription	Fetal Stomach	stomach
38	chr8:98992200-98993000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:98992200-98993000	Enhancers	HSMMtube	muscle
40	chr8:98992200-98993800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:98992200-98994600	Enhancers	Brain Hippocampus Middle	brain
42	chr8:98992200-98996400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:98992200-98998200	Enhancers	NHLF	lung
44	chr8:98992400-98994000	Weak transcription	Adipose Nuclei	Adipose
45	chr8:98992400-98994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:98992600-98993400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:98992600-98993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:98992600-98995800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:98992600-98996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:98992600-98996000	Weak transcription	HMEC	breast

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