Variant report

Variant	rs608273
Chromosome Location	chr11:66925768-66925769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10791899	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896154	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896167	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs11227756	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1253778	0.89[AMR][1000 genomes]
rs1638566	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1638567	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs2001635	0.92[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2001636	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071007	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs2256154	0.92[CHD][hapmap]
rs3781943	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap]
rs3927807	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4244819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4255546	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4375446	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4478996	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4503557	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4542419	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4930192	1.00[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap]
rs4930418	1.00[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap]
rs56337023	0.84[ASN][1000 genomes]
rs646834	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591232	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591239	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs660960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs674499	1.00[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113390	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7484186	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7930829	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9943601	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs608273	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
2	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66904400-66934000	Weak transcription	K562	blood
4	chr11:66904600-66928400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:66904800-66927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:66904800-66930400	Weak transcription	Fetal Heart	heart
7	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:66907800-66928600	Weak transcription	NHLF	lung
9	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
10	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
11	chr11:66914400-66929000	Weak transcription	Stomach Mucosa	stomach
12	chr11:66918400-66928400	Weak transcription	HUVEC	blood vessel
13	chr11:66918600-66926800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:66918600-66926800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:66918600-66927000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:66918600-66927000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:66918600-66927400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:66918600-66927600	Weak transcription	NHDF-Ad	bronchial
19	chr11:66918600-66928200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:66918600-66928400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:66918600-66928600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:66918600-66928800	Weak transcription	Brain Substantia Nigra	brain
23	chr11:66918600-66947200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:66918800-66925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:66918800-66926800	Weak transcription	Fetal Brain Male	brain
26	chr11:66918800-66928600	Weak transcription	NHEK	skin
27	chr11:66918800-66930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:66918800-66934000	Weak transcription	Left Ventricle	heart
29	chr11:66918800-66934600	Weak transcription	HMEC	breast
30	chr11:66918800-66935400	Weak transcription	HSMMtube	muscle
31	chr11:66918800-66936000	Weak transcription	Gastric	stomach
32	chr11:66918800-66947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:66919200-66930400	Weak transcription	Small Intestine	intestine
35	chr11:66919400-66932000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:66919400-66934600	Weak transcription	NH-A	brain
37	chr11:66919400-66947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:66919800-66927200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:66919800-66928800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:66919800-66947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:66919800-66947400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:66919800-66947400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:66919800-66949600	Weak transcription	Lung	lung
45	chr11:66920000-66927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:66920000-66934800	Weak transcription	HepG2	liver
47	chr11:66920000-66947600	Weak transcription	Right Ventricle	heart
48	chr11:66920400-66928800	Weak transcription	Hela-S3	cervix
49	chr11:66920400-66947200	Weak transcription	Placenta	Placenta
50	chr11:66920400-66947400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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