Variant report

Variant	rs554505423
Chromosome Location	chr10:50312815-50312816
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	chr10:50304348..50306100-chr10:50311387..50313034,2	K562	blood:
2	chr10:50308627..50310723-chr10:50311028..50313744,2	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	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	esv3341553	chr10:50312757-50313223	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3361331	chr10:50312806-50313247	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
3	chr10:50299600-50314400	Weak transcription	HSMMtube	muscle
4	chr10:50300800-50314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50303200-50314600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:50303400-50313600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:50303400-50314400	Weak transcription	Brain Anterior Caudate	brain
8	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:50303800-50314600	Weak transcription	Esophagus	oesophagus
11	chr10:50304000-50314400	Weak transcription	Brain Angular Gyrus	brain
12	chr10:50304600-50314400	Weak transcription	Liver	Liver
13	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
14	chr10:50305400-50314400	Weak transcription	NHLF	lung
15	chr10:50305800-50313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:50306400-50314600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:50307400-50314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:50307400-50314400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:50310200-50314400	Weak transcription	Adipose Nuclei	Adipose
20	chr10:50310600-50313200	Enhancers	Brain Hippocampus Middle	brain
21	chr10:50310800-50314400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:50311600-50313600	Enhancers	Right Atrium	heart
23	chr10:50311800-50317800	Weak transcription	Fetal Intestine Large	intestine
24	chr10:50312000-50314400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
26	chr10:50312400-50313400	Enhancers	Right Ventricle	heart
27	chr10:50312400-50313600	Enhancers	Ovary	ovary
28	chr10:50312400-50315600	Enhancers	Brain Germinal Matrix	brain
29	chr10:50312400-50316200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:50312600-50313400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:50312600-50313600	Enhancers	Fetal Lung	lung
32	chr10:50312600-50314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:50312600-50314600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:50312600-50314600	Weak transcription	Lung	lung
35	chr10:50312600-50316400	Weak transcription	K562	blood
36	chr10:50312600-50317000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:50312800-50313400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr10:50312800-50313600	Strong transcription	Fetal Muscle Leg	muscle
40	chr10:50312800-50314000	Enhancers	Fetal Stomach	stomach
41	chr10:50312800-50314400	Weak transcription	Left Ventricle	heart
42	chr10:50312800-50314600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:50312800-50315000	Weak transcription	Aorta	Aorta

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