Variant report

Variant	rs11679966
Chromosome Location	chr2:20506473-20506474
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20503251..20505156-chr2:20505532..20508254,2	K562	blood:
2	chr2:20100256..20102732-chr2:20505788..20508709,2	K562	blood:
3	chr2:20506314..20508608-chr2:20513176..20516092,2	K562	blood:

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10190763	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11096655	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683916	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686919	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2110409	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2348704	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs343163	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs343164	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs343165	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3771228	0.81[AMR][1000 genomes]
rs4666299	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666304	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666305	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666382	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4666383	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6531232	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6713329	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6730690	0.91[AFR][1000 genomes]
rs6756819	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7355288	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596797	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20471800-20533800	Strong transcription	Dnd41	blood
7	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:20476200-20514400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:20476400-20521000	Strong transcription	Fetal Intestine Large	intestine
11	chr2:20476600-20516400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:20476800-20516800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:20478600-20516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:20480400-20515400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr2:20483200-20520200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:20483400-20514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:20488200-20516400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:20488400-20513200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:20488400-20516800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:20488400-20517000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:20489400-20513000	Weak transcription	Stomach Mucosa	stomach
24	chr2:20489400-20517400	Weak transcription	Psoas Muscle	Psoas
25	chr2:20489800-20525800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:20491000-20513400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:20491400-20522600	Strong transcription	HepG2	liver
28	chr2:20491600-20513200	Weak transcription	Brain Angular Gyrus	brain
29	chr2:20491800-20513600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:20491800-20514800	Weak transcription	Gastric	stomach
31	chr2:20492000-20506800	Weak transcription	Right Atrium	heart
32	chr2:20492400-20513200	Weak transcription	Aorta	Aorta
33	chr2:20492400-20525800	Strong transcription	Liver	Liver
34	chr2:20493600-20507200	Weak transcription	HMEC	breast
35	chr2:20495400-20512200	Strong transcription	Primary T cells from cord blood	blood
36	chr2:20495800-20509600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:20496200-20513400	Strong transcription	GM12878-XiMat	blood
38	chr2:20496800-20516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:20497400-20516600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:20498000-20507200	Weak transcription	Colonic Mucosa	Colon
41	chr2:20498200-20507400	Weak transcription	Fetal Heart	heart
42	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
43	chr2:20500200-20522400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:20500400-20509000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:20500800-20508600	Strong transcription	Hela-S3	cervix
46	chr2:20501000-20507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:20501000-20513200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:20501000-20514000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:20501000-20519600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:20501600-20525000	Strong transcription	Placenta	Placenta

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