Variant report

Variant	rs147625458
Chromosome Location	chr2:233926447-233926448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233925658..233927822-chr2:233939006..233941097,2	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv520361	chr2:233926201-233929545	Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
2	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:233924400-233926800	Enhancers	K562	blood
4	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
7	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
10	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:233924800-233926800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:233924800-233927000	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr2:233924800-233927000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr2:233924800-233927200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:233924800-233927200	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:233924800-233927200	Active TSS	Small Intestine	intestine
17	chr2:233924800-233927400	Active TSS	Liver	Liver
18	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr2:233924800-233927400	Flanking Active TSS	HUVEC	blood vessel
21	chr2:233924800-233927600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr2:233925000-233926600	Active TSS	GM12878-XiMat	blood
24	chr2:233925000-233926800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:233925000-233926800	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr2:233925000-233927000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:233925000-233927400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:233925000-233927400	Active TSS	Esophagus	oesophagus
29	chr2:233925200-233926600	Active TSS	Brain Substantia Nigra	brain
30	chr2:233925200-233927000	Active TSS	Colon Smooth Muscle	Colon
31	chr2:233925200-233927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:233925200-233927800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:233925200-233930000	Enhancers	Stomach Mucosa	stomach
34	chr2:233925400-233926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:233925400-233926600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:233925400-233926600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:233925400-233927200	Flanking Active TSS	Dnd41	blood
38	chr2:233925400-233928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:233925400-233930000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:233925600-233926600	Weak transcription	Pancreas	Pancrea
41	chr2:233925600-233926800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:233925600-233927000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:233925600-233927400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:233925600-233928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:233925800-233927200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:233925800-233927400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:233925800-233927400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:233925800-233927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:233925800-233928000	Flanking Active TSS	Fetal Thymus	thymus
50	chr2:233925800-233928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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