Variant report

Variant	rs544048513
Chromosome Location	chr10:50322847-50322848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322533..50324257-chr10:50507150..50509486,2	K562	blood:
2	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
ENSG00000177354	Chromatin interaction
ENSG00000172538	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3497465	chr10:50322646-50324644	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3497466	chr10:50322646-50324644	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
2	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
3	chr10:50319800-50323000	Weak transcription	Lung	lung
4	chr10:50321000-50323200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:50321600-50323000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:50321800-50324000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr10:50322000-50323000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr10:50322000-50323000	Flanking Active TSS	Fetal Muscle Leg	muscle
9	chr10:50322000-50323200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr10:50322000-50323200	Flanking Active TSS	NHLF	lung
11	chr10:50322000-50324000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr10:50322200-50323000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr10:50322200-50323800	Active TSS	Right Ventricle	heart
14	chr10:50322200-50324000	Active TSS	Aorta	Aorta
15	chr10:50322200-50324600	Active TSS	Brain Cingulate Gyrus	brain
16	chr10:50322400-50323800	Active TSS	Left Ventricle	heart
17	chr10:50322400-50323800	Active TSS	Ovary	ovary
18	chr10:50322400-50323800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr10:50322400-50324000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:50322400-50324000	Active TSS	Right Atrium	heart
21	chr10:50322400-50324000	Active TSS	HSMMtube	muscle
22	chr10:50322600-50323000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:50322600-50323000	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr10:50322600-50323200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
25	chr10:50322600-50323200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr10:50322600-50323200	Flanking Active TSS	K562	blood
27	chr10:50322600-50323400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr10:50322600-50323400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
29	chr10:50322600-50323800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr10:50322600-50323800	Active TSS	Fetal Kidney	kidney
31	chr10:50322600-50323800	Active TSS	Psoas Muscle	Psoas
32	chr10:50322600-50323800	Active TSS	NH-A	brain
33	chr10:50322600-50324000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50322600-50324000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:50322600-50324000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:50322600-50324000	Active TSS	Fetal Lung	lung
37	chr10:50322600-50324000	Active TSS	Rectal Smooth Muscle	rectum
38	chr10:50322800-50323000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr10:50322800-50323000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:50322800-50323000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr10:50322800-50323000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr10:50322800-50323000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:50322800-50323000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:50322800-50323000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr10:50322800-50323000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
46	chr10:50322800-50323000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:50322800-50323000	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr10:50322800-50323000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr10:50322800-50323000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr10:50322800-50323000	Active TSS	Stomach Smooth Muscle	stomach

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