Variant report

Variant	rs548179386
Chromosome Location	chr2:11735535-11735536
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	chr2:11733968..11736190-chr2:11742659..11745158,2	K562	blood:
2	chr2:11734732..11736294-chr2:11737996..11740139,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3359856	chr2:11735526-11738274	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
5	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11720000-11735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:11723000-11740400	Weak transcription	Liver	Liver
11	chr2:11723400-11740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:11723600-11735600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:11723600-11738600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:11724400-11738000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:11724400-11738600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:11724600-11741000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11724800-11735600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:11724800-11736000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:11724800-11749600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:11725000-11743800	Weak transcription	Fetal Kidney	kidney
24	chr2:11725400-11742400	Strong transcription	Ovary	ovary
25	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:11732800-11736800	Strong transcription	Fetal Stomach	stomach
27	chr2:11733000-11736400	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:11733400-11750800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:11733600-11735600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:11733600-11737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:11733600-11737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:11733600-11750600	Weak transcription	Pancreas	Pancrea
33	chr2:11733600-11784000	Strong transcription	HepG2	liver
34	chr2:11734200-11735600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:11735000-11737800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:11735200-11736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:11735200-11736200	Strong transcription	Fetal Lung	lung
38	chr2:11735200-11736600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:11735200-11738400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:11735200-11744600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr2:11735200-11746400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:11735400-11736000	Strong transcription	Brain Hippocampus Middle	brain
43	chr2:11735400-11736200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:11735400-11736200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:11735400-11736200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:11735400-11736400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:11735400-11736400	Strong transcription	Brain Substantia Nigra	brain
48	chr2:11735400-11736600	Strong transcription	Brain Inferior Temporal Lobe	brain

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