Variant report

Variant	rs7926726
Chromosome Location	chr11:46264906-46264907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46262681..46266586-chr11:46271092..46274649,4	MCF-7	breast:
2	chr1:17231333..17231967-chr11:46264658..46265339,2	NB4	blood:
3	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
4	chr11:46263626..46270809-chr11:46297011..46303055,11	K562	blood:
5	chr11:46140962..46145134-chr11:46264559..46267639,5	K562	blood:
6	chr11:46263673..46265397-chr11:46397060..46399611,2	K562	blood:
7	chr11:46264875..46267738-chr11:46329281..46332711,3	MCF-7	breast:
8	chr11:46264211..46266270-chr11:46367573..46370495,3	MCF-7	breast:
9	chr11:46148639..46152433-chr11:46264114..46268004,4	K562	blood:
10	chr11:46261971..46264910-chr11:46359526..46361231,2	K562	blood:
11	chr11:46263623..46265144-chr11:46301509..46304362,2	MCF-7	breast:
12	chr1:46216033..46216717-chr11:46264662..46265395,2	Hela-S3	cervix:
13	chr11:46264082..46266416-chr7:151375101..151377352,2	MCF-7	breast:
14	chr11:46264156..46266596-chr11:46279447..46282545,3	K562	blood:
15	chr11:46243733..46245784-chr11:46263716..46265600,2	K562	blood:
16	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
17	chr11:46263532..46266439-chr11:46314699..46317339,4	MCF-7	breast:
18	chr11:46264685..46267972-chr11:46298654..46302418,5	K562	blood:
19	chr11:46263449..46265735-chr11:46337314..46338830,2	MCF-7	breast:
20	chr11:46264156..46266747-chr11:46279886..46281544,2	K562	blood:
21	chr11:46263045..46265873-chr11:46295785..46297445,2	MCF-7	breast:
22	chr11:46132224..46135042-chr11:46263015..46266575,4	K562	blood:
23	chr11:46255797..46257646-chr11:46263436..46265012,2	MCF-7	breast:
24	chr11:46263663..46266589-chr11:46322297..46324739,2	K562	blood:
25	chr11:46264505..46265338-chr13:21714501..21715207,2	NB4	blood:
26	chr1:158979182..158979808-chr11:46264417..46265215,2	Hela-S3	cervix:
27	chr11:46262370..46265982-chr11:46295406..46297667,3	MCF-7	breast:
28	chr11:46263737..46269397-chr11:46329982..46337819,11	K562	blood:
29	chr11:46263634..46265173-chr11:46350706..46352821,2	MCF-7	breast:
30	chr11:46264873..46265434-chr5:75013238..75013962,2	HCT-116	colon:
31	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
32	chr11:46263412..46267230-chr11:46295489..46297894,3	K562	blood:
33	chr11:46258132..46262487-chr11:46262978..46267443,11	MCF-7	breast:
34	chr11:46263823..46266551-chr11:46357468..46359164,2	K562	blood:
35	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
36	chr11:45952509..45955320-chr11:46263473..46266230,2	MCF-7	breast:
37	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
38	chr11:46264430..46267699-chr11:46311283..46314197,3	K562	blood:
39	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
40	chr11:46263512..46266162-chr11:46400949..46402899,2	K562	blood:
41	chr11:46141561..46146352-chr11:46263499..46266463,7	MCF-7	breast:
42	chr11:46264390..46266191-chr11:46349248..46351838,2	K562	blood:
43	chr11:46242391..46244126-chr11:46262413..46265513,3	K562	blood:
44	chr1:97187532..97188205-chr11:46264654..46265306,2	Hela-S3	cervix:
45	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
46	chr11:46264754..46267699-chr11:46310847..46314197,3	K562	blood:
47	chr11:46142521..46144729-chr11:46264687..46266930,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255007	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000152359	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000254653	Chromatin interaction
ENSG00000163565	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000150459	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11038851	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11605191	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28755875	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35671387	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58301639	1.00[ASN][1000 genomes]
rs58678374	1.00[ASN][1000 genomes]
rs7104451	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7105423	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7113170	0.96[ASN][1000 genomes]
rs7116965	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[ASN][1000 genomes]
rs72908086	0.82[ASN][1000 genomes]
rs72908089	0.86[ASN][1000 genomes]
rs72908091	0.86[ASN][1000 genomes]
rs72908092	0.86[ASN][1000 genomes]
rs72908096	0.86[ASN][1000 genomes]
rs72908098	0.86[ASN][1000 genomes]
rs72908102	0.86[ASN][1000 genomes]
rs72910006	0.96[ASN][1000 genomes]
rs72910027	0.82[ASN][1000 genomes]
rs7931075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943808	0.86[ASN][1000 genomes]

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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7926726	CKAP5	cis	cerebellum	SCAN
rs7926726	MTCH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46264000-46265000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:46264200-46265000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:46264200-46265600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:46264200-46265600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:46264200-46265600	Flanking Active TSS	HSMM	muscle
6	chr11:46264200-46265600	Flanking Active TSS	NHEK	skin
7	chr11:46264400-46265000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:46264400-46265000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr11:46264400-46265000	Flanking Active TSS	Osteobl	bone
10	chr11:46264400-46265400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:46264400-46265400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:46264400-46265400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr11:46264400-46265400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr11:46264400-46265400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:46264400-46265400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:46264400-46265400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:46264400-46265600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:46264400-46265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:46264400-46265600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:46264400-46265600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:46264400-46265600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:46264400-46265600	Active TSS	Psoas Muscle	Psoas
23	chr11:46264400-46265600	Flanking Active TSS	HUVEC	blood vessel
24	chr11:46264400-46265600	Flanking Active TSS	NH-A	brain
25	chr11:46264600-46265000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:46264600-46265000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:46264600-46265000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr11:46264600-46265000	Flanking Active TSS	Fetal Brain Male	brain
29	chr11:46264600-46265000	Weak transcription	Small Intestine	intestine
30	chr11:46264600-46265000	Active TSS	HMEC	breast
31	chr11:46264600-46265200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:46264600-46265200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:46264600-46265200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:46264600-46265200	Active TSS	Esophagus	oesophagus
35	chr11:46264600-46265200	Active TSS	Lung	lung
36	chr11:46264600-46265200	Transcr. at gene 5' and 3'	Right Atrium	heart
37	chr11:46264600-46265400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr11:46264600-46265400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:46264600-46265400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:46264600-46265400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr11:46264600-46265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:46264600-46265400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:46264600-46265400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr11:46264600-46265400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:46264600-46265400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:46264600-46265400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:46264600-46265400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr11:46264600-46265600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:46264600-46265600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
50	chr11:46264600-46265600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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