Variant report

Variant	rs533754991
Chromosome Location	chr2:172849120-172849121
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	chr2:172846612..172849419-chr2:172950654..172952624,2	K562	blood:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv821789	chr2:172848267-172849585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv821790	chr2:172848378-172854109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
2	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:172796000-172855200	Weak transcription	Gastric	stomach
4	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
8	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
9	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
10	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
12	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
13	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
16	chr2:172824200-172850400	Weak transcription	HMEC	breast
17	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:172836200-172851000	Strong transcription	Dnd41	blood
19	chr2:172836400-172849200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:172836400-172851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172838800-172849200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:172839200-172849800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172840000-172849200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:172840200-172849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:172840800-172857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172841000-172849200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:172841000-172849400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:172841000-172849600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:172842400-172849800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:172843000-172849200	Strong transcription	Primary B cells from cord blood	blood
31	chr2:172843400-172852800	Weak transcription	Aorta	Aorta
32	chr2:172844000-172854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:172844200-172849800	Weak transcription	NHEK	skin
34	chr2:172844200-172857200	Weak transcription	Brain Germinal Matrix	brain
35	chr2:172844400-172857400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:172844600-172849800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:172844600-172850200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:172844600-172855600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:172845000-172851200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:172845200-172852000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:172845200-172857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:172845400-172849600	Weak transcription	Osteobl	bone
43	chr2:172845600-172849200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:172845600-172849200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:172845600-172850400	Weak transcription	Colonic Mucosa	Colon
46	chr2:172845600-172850600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:172845600-172850800	Weak transcription	Lung	lung
48	chr2:172845600-172851000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:172845600-172851600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:172845600-172852200	Weak transcription	GM12878-XiMat	blood

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