Variant report

Variant	rs193112147
Chromosome Location	chr10:50320141-50320142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50318764..50321622-chr10:50328764..50331472,2	K562	blood:

Variant related genes	Relation type
ENSG00000234736	Chromatin interaction

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
2	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:50314400-50321400	Genic enhancers	Fetal Stomach	stomach
4	chr10:50314600-50320200	Enhancers	Right Atrium	heart
5	chr10:50314600-50321000	Genic enhancers	Fetal Muscle Leg	muscle
6	chr10:50315000-50322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
8	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
9	chr10:50315800-50320600	Enhancers	Fetal Lung	lung
10	chr10:50315800-50322200	Enhancers	Left Ventricle	heart
11	chr10:50315800-50322600	Weak transcription	Liver	Liver
12	chr10:50316000-50321200	Enhancers	Right Ventricle	heart
13	chr10:50316000-50321600	Enhancers	Ovary	ovary
14	chr10:50316600-50320200	Weak transcription	Fetal Thymus	thymus
15	chr10:50317000-50320400	Enhancers	NHDF-Ad	bronchial
16	chr10:50317200-50320600	Enhancers	NHLF	lung
17	chr10:50317200-50321000	Enhancers	Adipose Nuclei	Adipose
18	chr10:50317200-50321600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:50317200-50321600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:50317400-50322000	Weak transcription	K562	blood
21	chr10:50318000-50320600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:50318000-50321800	Enhancers	HSMMtube	muscle
23	chr10:50318000-50322200	Weak transcription	Brain Anterior Caudate	brain
24	chr10:50318200-50322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:50318600-50320400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr10:50318600-50321000	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr10:50318600-50321400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:50318600-50321400	Weak transcription	Osteobl	bone
29	chr10:50318600-50321800	Weak transcription	Fetal Heart	heart
30	chr10:50318600-50322200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:50318800-50321000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:50319000-50320400	Enhancers	Placenta	Placenta
33	chr10:50319000-50320800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:50319000-50321400	Weak transcription	HSMM	muscle
35	chr10:50319000-50322000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:50319000-50322800	Weak transcription	Esophagus	oesophagus
37	chr10:50319200-50321800	Weak transcription	Brain Substantia Nigra	brain
38	chr10:50319400-50320400	Enhancers	Aorta	Aorta
39	chr10:50319400-50321600	Weak transcription	Brain Angular Gyrus	brain
40	chr10:50319600-50320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:50319600-50320200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:50319600-50320400	Enhancers	Colonic Mucosa	Colon
43	chr10:50319600-50321600	Enhancers	Stomach Smooth Muscle	stomach
44	chr10:50319600-50322000	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:50319600-50322600	Weak transcription	Psoas Muscle	Psoas
46	chr10:50319800-50321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:50319800-50323000	Weak transcription	Lung	lung
48	chr10:50320000-50320200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:50320000-50320200	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr10:50320000-50321400	Enhancers	Brain Cingulate Gyrus	brain

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