Variant report

Variant	rs9288683
Chromosome Location	chr2:233967769-233967770
allele	A/C
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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13396115	1.00[CHB][hapmap]
rs13427129	0.86[ASN][1000 genomes]
rs13427156	0.86[ASN][1000 genomes]
rs4315512	1.00[CHB][hapmap]
rs4973608	1.00[CHB][hapmap]
rs9749807	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:41 , 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	chr2:233964200-233967800	Enhancers	Primary B cells from cord blood	blood
5	chr2:233964200-233981600	Weak transcription	Pancreas	Pancrea
6	chr2:233964400-233973200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:233965600-233975400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:233965800-233967800	Weak transcription	Esophagus	oesophagus
9	chr2:233965800-233967800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:233965800-233968200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:233965800-233969000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:233965800-233969600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:233965800-233970200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:233965800-233971600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:233965800-233988200	Weak transcription	HUVEC	blood vessel
16	chr2:233966000-233967800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:233966000-233968400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:233966000-233968400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:233966000-233971400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:233966000-233971800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:233966000-233971800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:233966000-233972800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:233966000-233973200	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr2:233966000-233974200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:233966000-233977400	Weak transcription	HepG2	liver
26	chr2:233966200-233967800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:233966200-233967800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:233966200-233969200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:233966200-233971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:233966200-233972800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:233966600-233968400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr2:233966600-233968400	Genic enhancers	Fetal Thymus	thymus
33	chr2:233966600-233973000	Genic enhancers	GM12878-XiMat	blood
34	chr2:233967000-233967800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:233967000-233971400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:233967200-233967800	Weak transcription	Spleen	Spleen
37	chr2:233967200-233968400	Enhancers	Thymus	Thymus
38	chr2:233967200-233970400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:233967600-233968000	Genic enhancers	Primary T cells from cord blood	blood
40	chr2:233967600-233968000	Enhancers	Dnd41	blood
41	chr2:233967600-233969400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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