Variant report

Variant	rs542172989
Chromosome Location	chr2:233965785-233965786
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	chr2:233954509..233957315-chr2:233965664..233967845,2	K562	blood:

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	esv3363601	chr2:233965558-233967656	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233948600-233971800	Weak transcription	Right Ventricle	heart
2	chr2:233957600-233969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:233958800-233977600	Weak transcription	Left Ventricle	heart
4	chr2:233961800-233966200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:233962600-233967200	Genic enhancers	Primary hematopoietic stem cells	blood
6	chr2:233962800-233967200	Enhancers	Spleen	Spleen
7	chr2:233964000-233965800	Genic enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:233964000-233966800	Enhancers	Dnd41	blood
9	chr2:233964200-233966600	Enhancers	Thymus	Thymus
10	chr2:233964200-233967800	Enhancers	Primary B cells from cord blood	blood
11	chr2:233964200-233981600	Weak transcription	Pancreas	Pancrea
12	chr2:233964400-233966000	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:233964400-233973200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:233964600-233966600	Enhancers	Fetal Thymus	thymus
15	chr2:233964800-233965800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:233964800-233965800	Enhancers	Esophagus	oesophagus
17	chr2:233964800-233966000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:233964800-233966000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:233964800-233966000	Strong transcription	HepG2	liver
20	chr2:233965000-233965800	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:233965000-233965800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr2:233965000-233965800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr2:233965000-233965800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
24	chr2:233965000-233965800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:233965000-233965800	Enhancers	Lung	lung
26	chr2:233965000-233965800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:233965000-233966000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:233965200-233965800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
29	chr2:233965200-233965800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:233965200-233965800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:233965200-233966000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:233965400-233965800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr2:233965400-233965800	Enhancers	HUVEC	blood vessel
34	chr2:233965400-233966000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:233965400-233966000	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:233965400-233966000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:233965400-233966200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:233965400-233967000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:233965400-233967000	Weak transcription	Colonic Mucosa	Colon
40	chr2:233965600-233965800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:233965600-233965800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr2:233965600-233966000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:233965600-233966000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:233965600-233966400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:233965600-233975400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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