Variant report

Variant	rs557091093
Chromosome Location	chr8:121020061-121020062
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	chr8:121014717..121017057-chr8:121018233..121020594,3	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv528628	chr8:121019737-121023967	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
4	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
6	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
7	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
9	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:121015000-121020200	Strong transcription	Liver	Liver
11	chr8:121015200-121022400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:121015200-121023400	Weak transcription	Aorta	Aorta
13	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
14	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:121015800-121021000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:121016000-121021200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:121016000-121023200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
20	chr8:121016200-121021000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
22	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:121017400-121020200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:121017600-121020200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:121017600-121021600	Strong transcription	Fetal Intestine Small	intestine
26	chr8:121017800-121020400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:121017800-121021000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:121017800-121022400	Strong transcription	Brain Hippocampus Middle	brain
29	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
30	chr8:121018200-121021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:121018200-121021800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:121018200-121023200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
34	chr8:121018800-121023800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:121019000-121020200	Strong transcription	Brain Substantia Nigra	brain
36	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:121019200-121020800	Enhancers	Primary T cells from cord blood	blood
38	chr8:121019400-121020200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:121019600-121020200	Strong transcription	Left Ventricle	heart
40	chr8:121019600-121021400	Enhancers	Placenta	Placenta
41	chr8:121019600-121021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:121019600-121021600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:121019800-121020200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:121019800-121020400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:121019800-121020400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:121019800-121021000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:121019800-121021400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:121019800-121021600	Enhancers	Fetal Thymus	thymus
49	chr8:121019800-121027400	Weak transcription	Fetal Stomach	stomach
50	chr8:121020000-121020200	Weak transcription	Primary hematopoietic stem cells	blood

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