Variant report

Variant	rs530449463
Chromosome Location	chr2:233926918-233926919
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	chr2:233925658..233927822-chr2:233939006..233941097,2	K562	blood:
2	chr2:233923263..233925665-chr2:233926706..233928390,2	MCF-7	breast:

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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233923000-233927800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233924400-233927200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:233924400-233927200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:233924400-233928800	Active TSS	Brain Hippocampus Middle	brain
5	chr2:233924600-233927000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:233924600-233927000	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:233924600-233928000	Active TSS	Brain Anterior Caudate	brain
8	chr2:233924600-233929200	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:233924800-233927000	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:233924800-233927000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr2:233924800-233927200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:233924800-233927200	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:233924800-233927200	Active TSS	Small Intestine	intestine
14	chr2:233924800-233927400	Active TSS	Liver	Liver
15	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr2:233924800-233927400	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr2:233924800-233927400	Flanking Active TSS	HUVEC	blood vessel
18	chr2:233924800-233927600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr2:233924800-233929800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:233925000-233927000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:233925000-233927400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:233925000-233927400	Active TSS	Esophagus	oesophagus
23	chr2:233925200-233927000	Active TSS	Colon Smooth Muscle	Colon
24	chr2:233925200-233927200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:233925200-233927800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:233925200-233930000	Enhancers	Stomach Mucosa	stomach
27	chr2:233925400-233927200	Flanking Active TSS	Dnd41	blood
28	chr2:233925400-233928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:233925400-233930000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr2:233925600-233927000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr2:233925600-233927400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr2:233925600-233928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:233925800-233927200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:233925800-233927400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:233925800-233927400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:233925800-233927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:233925800-233928000	Flanking Active TSS	Fetal Thymus	thymus
38	chr2:233925800-233928200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:233925800-233928400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:233925800-233929000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:233926000-233927000	Enhancers	NHLF	lung
42	chr2:233926000-233928200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:233926000-233929200	Flanking Active TSS	HepG2	liver
44	chr2:233926200-233927200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr2:233926200-233927200	Flanking Active TSS	Right Ventricle	heart
46	chr2:233926200-233927400	Flanking Active TSS	Placenta	Placenta
47	chr2:233926200-233927600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:233926200-233928200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:233926200-233928400	Flanking Active TSS	Thymus	Thymus
50	chr2:233926200-233928800	Enhancers	Fetal Intestine Large	intestine

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