Variant report

Variant	rs554973011
Chromosome Location	chr8:48779222-48779223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48777971..48781405-chr8:48784678..48787276,3	K562	blood:
2	chr8:48777637..48780299-chr8:48781061..48783463,2	K562	blood:
3	chr8:48777971..48781405-chr8:48784678..48787276,4	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv3342946	chr8:48778448-48802085	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
7	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:48739600-48783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:48739800-48793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
18	chr8:48754000-48782400	Strong transcription	Liver	Liver
19	chr8:48755600-48781800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:48756600-48793400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:48759200-48785000	Strong transcription	Hela-S3	cervix
23	chr8:48759600-48783800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:48759600-48784200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:48759800-48783600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:48759800-48784000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:48760200-48783600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:48760600-48783200	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:48760800-48779600	Strong transcription	Fetal Stomach	stomach
31	chr8:48761000-48793400	Strong transcription	Primary B cells from cord blood	blood
32	chr8:48761400-48779800	Strong transcription	Fetal Intestine Small	intestine
33	chr8:48762400-48786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:48771800-48786600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:48773000-48784000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
37	chr8:48775400-48786200	Weak transcription	Fetal Brain Male	brain
38	chr8:48775400-48788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
40	chr8:48775600-48791400	Weak transcription	Fetal Heart	heart
41	chr8:48776400-48779600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:48777000-48779400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:48777200-48779600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:48777200-48781200	Weak transcription	Colonic Mucosa	Colon
46	chr8:48777200-48781400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:48777200-48781400	Weak transcription	Brain Anterior Caudate	brain
48	chr8:48777200-48781400	Weak transcription	Brain Germinal Matrix	brain
49	chr8:48777200-48782000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:48777200-48782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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