Variant report

Variant	rs7991663
Chromosome Location	chr13:80133299-80133300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11549502	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11838700	1.00[ASN][1000 genomes]
rs11838769	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11839222	0.89[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];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4884132	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885641	0.84[EUR][1000 genomes];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	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7139902	1.00[ASN][1000 genomes]
rs7321672	0.89[AMR][1000 genomes]
rs73234683	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73234690	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73235960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
rs7399942	0.81[EUR][1000 genomes]
rs74098308	1.00[ASN][1000 genomes]
rs74098315	1.00[ASN][1000 genomes]
rs74098399	1.00[ASN][1000 genomes]
rs7983288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7983312	1.00[ASN][1000 genomes]
rs7983516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7985220	1.00[ASN][1000 genomes]
rs7985239	1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7990729	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7992646	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];1.00[YRI][hapmap];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];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs8002638	1.00[ASN][1000 genomes]
rs9530926	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530928	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530932	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530933	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530935	0.81[EUR][1000 genomes]
rs9530936	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545119	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9545126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545127	0.85[CEU][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545129	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545130	0.85[CEU][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545140	0.81[EUR][1000 genomes]
rs9545141	0.81[EUR][1000 genomes]
rs9545143	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545144	0.81[EUR][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	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
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
2	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
3	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
4	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:80102200-80133600	Weak transcription	Gastric	stomach
6	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:80113200-80133800	Weak transcription	Left Ventricle	heart
8	chr13:80115000-80133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:80120200-80134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:80123000-80135000	Weak transcription	Stomach Mucosa	stomach
11	chr13:80124200-80134200	Weak transcription	Fetal Intestine Large	intestine
12	chr13:80129400-80133800	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:80130000-80134800	Strong transcription	Dnd41	blood
14	chr13:80130400-80134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:80130600-80135600	ZNF genes & repeats	NHEK	skin
16	chr13:80131600-80134200	Weak transcription	Fetal Thymus	thymus
17	chr13:80131600-80135200	ZNF genes & repeats	Liver	Liver
18	chr13:80131800-80134200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:80131800-80135600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:80131800-80135600	ZNF genes & repeats	HMEC	breast
21	chr13:80132000-80134000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:80132000-80135800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:80132200-80133400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:80132200-80133600	ZNF genes & repeats	A549	lung
25	chr13:80132200-80134000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:80132200-80135200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:80132200-80136000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:80132600-80134000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:80133000-80133400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr13:80133000-80134600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:80133000-80134800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:80133000-80135800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr13:80133200-80133400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr13:80133200-80133400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:80133200-80133600	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr13:80133200-80133600	ZNF genes & repeats	HSMMtube	muscle
37	chr13:80133200-80133600	ZNF genes & repeats	Osteobl	bone
38	chr13:80133200-80133800	ZNF genes & repeats	NH-A	brain
39	chr13:80133200-80134000	ZNF genes & repeats	Hela-S3	cervix
40	chr13:80133200-80134000	ZNF genes & repeats	HSMM	muscle
41	chr13:80133200-80134200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr13:80133200-80134800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
43	chr13:80133200-80135000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:80133200-80135400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr13:80133200-80135400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr13:80133200-80135600	ZNF genes & repeats	Fetal Intestine Small	intestine

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