Variant report

Variant	rs541614243
Chromosome Location	chr1:210827027-210827028
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	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
2	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
4	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv873151	chr1:210818347-210846888	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	esv3348452	chr1:210827024-210827384	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210819400-210827200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:210819600-210827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:210821000-210827200	Weak transcription	Ovary	ovary
5	chr1:210821400-210827200	Weak transcription	Right Ventricle	heart
6	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
7	chr1:210821600-210827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:210821600-210827200	Weak transcription	HSMMtube	muscle
9	chr1:210821800-210827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:210821800-210827200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:210821800-210827200	Weak transcription	HSMM	muscle
12	chr1:210822000-210827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:210822600-210827200	Weak transcription	Fetal Lung	lung
14	chr1:210823200-210827200	Weak transcription	Aorta	Aorta
15	chr1:210823200-210827200	Weak transcription	Fetal Brain Male	brain
16	chr1:210823800-210827200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:210823800-210827200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:210823800-210828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:210824200-210827200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:210824200-210827200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:210824200-210827200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:210824200-210827200	Weak transcription	Brain Substantia Nigra	brain
23	chr1:210824200-210830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:210824600-210827200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:210825200-210827200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:210825800-210827200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:210826000-210827200	Weak transcription	Fetal Heart	heart
28	chr1:210826000-210827200	Weak transcription	Lung	lung
29	chr1:210826200-210827200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:210826400-210827200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:210826400-210827200	Weak transcription	Esophagus	oesophagus
32	chr1:210826400-210827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:210826800-210827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:210826800-210827200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:210827000-210827200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:210827000-210827200	Weak transcription	Liver	Liver
37	chr1:210827000-210827400	ZNF genes & repeats	HepG2	liver
38	chr1:210827000-210827600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr1:210827000-210827600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:210827000-210827600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:210827000-210827600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:210827000-210827600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr1:210827000-210827600	ZNF genes & repeats	Gastric	stomach
44	chr1:210827000-210827600	ZNF genes & repeats	Pancreas	Pancrea
45	chr1:210827000-210827600	ZNF genes & repeats	A549	lung
46	chr1:210827000-210827600	ZNF genes & repeats	NHLF	lung
47	chr1:210827000-210827800	ZNF genes & repeats	Spleen	Spleen

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