Variant report

Variant	rs7983312
Chromosome Location	chr13:80020783-80020784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11838700	1.00[ASN][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	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410334	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1410335	0.82[EUR][1000 genomes]
rs17071316	1.00[CEU][hapmap]
rs17071492	1.00[ASN][1000 genomes]
rs17071549	0.87[TSI][hapmap]
rs17071589	1.00[ASN][1000 genomes]
rs17071629	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs17431002	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs41305026	0.82[EUR][1000 genomes]
rs4884132	1.00[ASN][1000 genomes]
rs4885635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4885639	1.00[ASN][1000 genomes]
rs4885641	1.00[ASN][1000 genomes]
rs55820419	1.00[ASN][1000 genomes]
rs56863569	1.00[ASN][1000 genomes]
rs58069884	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58233612	1.00[ASN][1000 genomes]
rs58264675	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59251364	1.00[ASN][1000 genomes]
rs59319360	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60016606	1.00[ASN][1000 genomes]
rs6563111	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs67435118	1.00[ASN][1000 genomes]
rs7139902	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235960	1.00[ASN][1000 genomes]
rs7325970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337908	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][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]
rs73548948	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][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]
rs7985220	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985239	1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7991663	1.00[ASN][1000 genomes]
rs7992646	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7995350	1.00[ASN][1000 genomes]
rs7995408	1.00[ASN][1000 genomes]
rs7995717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000301	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs8002638	1.00[ASN][1000 genomes]
rs9530927	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9530936	1.00[ASN][1000 genomes]
rs9545126	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9545129	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9545132	1.00[CHB][hapmap];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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80016200-80025800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:80019600-80021000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:80019800-80020800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr13:80019800-80021000	Enhancers	Dnd41	blood
6	chr13:80019800-80021200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:80020000-80020800	Enhancers	Fetal Thymus	thymus
8	chr13:80020200-80020800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr13:80020200-80020800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr13:80020200-80021600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:80020200-80021600	Enhancers	Primary T cells from cord blood	blood
12	chr13:80020200-80024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:80020600-80020800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:80020600-80020800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:80020600-80020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr13:80020600-80021000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:80020600-80021000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:80020600-80021000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:80020600-80021200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:80020600-80023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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