Variant report

Variant	rs7992646
Chromosome Location	chr13:80107332-80107333
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	chr13:80104979..80107447-chr13:80112645..80114735,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11838700	1.00[ASN][1000 genomes]
rs11838769	0.88[AMR][1000 genomes]
rs11839222	0.83[AMR][1000 genomes]
rs11839689	1.00[ASN][1000 genomes]
rs11840407	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11841756	1.00[ASN][1000 genomes]
rs11843917	1.00[ASN][1000 genomes]
rs1335372	1.00[ASN][1000 genomes]
rs17071492	1.00[ASN][1000 genomes]
rs17071589	1.00[ASN][1000 genomes]
rs17071629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17431002	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4884132	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4885635	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4885639	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4885641	1.00[ASN][1000 genomes]
rs55820419	1.00[ASN][1000 genomes]
rs56863569	1.00[ASN][1000 genomes]
rs58069884	1.00[ASN][1000 genomes]
rs58233612	1.00[ASN][1000 genomes]
rs58264675	1.00[ASN][1000 genomes]
rs59251364	1.00[ASN][1000 genomes]
rs59319360	1.00[ASN][1000 genomes]
rs60016606	1.00[ASN][1000 genomes]
rs6563111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs67435118	1.00[ASN][1000 genomes]
rs7139902	1.00[ASN][1000 genomes]
rs7321672	0.83[AMR][1000 genomes]
rs73234683	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73235960	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7325970	1.00[ASN][1000 genomes]
rs7337908	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[ASN][1000 genomes]
rs7338662	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73548905	1.00[ASN][1000 genomes]
rs73548913	1.00[ASN][1000 genomes]
rs73548931	1.00[ASN][1000 genomes]
rs73548932	1.00[ASN][1000 genomes]
rs73548936	1.00[ASN][1000 genomes]
rs73548939	1.00[ASN][1000 genomes]
rs73548952	1.00[ASN][1000 genomes]
rs73548962	1.00[ASN][1000 genomes]
rs73548974	1.00[ASN][1000 genomes]
rs73551514	1.00[ASN][1000 genomes]
rs73551516	1.00[ASN][1000 genomes]
rs74098308	1.00[ASN][1000 genomes]
rs74098315	1.00[ASN][1000 genomes]
rs74098399	1.00[ASN][1000 genomes]
rs7983288	0.85[AMR][1000 genomes]
rs7983312	1.00[ASN][1000 genomes]
rs7985220	1.00[ASN][1000 genomes]
rs7985239	1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7991663	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7995350	1.00[ASN][1000 genomes]
rs7995408	1.00[ASN][1000 genomes]
rs7995717	1.00[ASN][1000 genomes]
rs8000301	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8002638	1.00[ASN][1000 genomes]
rs9530926	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9530927	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9530936	1.00[ASN][1000 genomes]
rs9545126	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9545129	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9545132	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9545143	1.00[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	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7992646	MYCBP2	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
5	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
6	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
7	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
8	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:80095600-80108000	Weak transcription	NHDF-Ad	bronchial
16	chr13:80095600-80109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:80095600-80109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:80097000-80108000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:80097000-80109200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr13:80097000-80110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
22	chr13:80097200-80108600	Weak transcription	HSMMtube	muscle
23	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
25	chr13:80097400-80108600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:80097400-80121800	Weak transcription	Lung	lung
27	chr13:80097800-80110800	Weak transcription	Fetal Intestine Small	intestine
28	chr13:80098000-80112600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr13:80098200-80111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
32	chr13:80098600-80107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:80098600-80108200	Weak transcription	Ovary	ovary
34	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
35	chr13:80098800-80109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:80099400-80108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:80099400-80112000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:80099400-80115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
40	chr13:80099600-80112000	Weak transcription	Adipose Nuclei	Adipose
41	chr13:80099800-80107800	Weak transcription	A549	lung
42	chr13:80099800-80113600	Weak transcription	GM12878-XiMat	blood
43	chr13:80100000-80108200	Weak transcription	NHLF	lung
44	chr13:80100400-80108200	Weak transcription	NH-A	brain
45	chr13:80100400-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:80100600-80108600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
49	chr13:80101000-80123400	Weak transcription	HMEC	breast
50	chr13:80101400-80108600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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