Variant report

Variant	rs4930418
Chromosome Location	chr11:67084761-67084762
allele	C/T
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:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:
2	chr11:67083362..67086060-chr11:67167678..67169681,2	K562	blood:
3	chr11:66790162..66792037-chr11:67083316..67085082,2	MCF-7	breast:
4	chr11:67083785..67086299-chr11:67148682..67150944,2	MCF-7	breast:
5	chr11:67083580..67086941-chr11:67112565..67115612,3	MCF-7	breast:
6	chr11:66822099..66824067-chr11:67083569..67086506,3	MCF-7	breast:
7	chr11:67029768..67030647-chr11:67084716..67085624,6	MCF-7	breast:
8	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
9	chr11:67029826..67031104-chr11:67084689..67085614,9	K562	blood:
10	chr11:67084204..67085071-chr16:53468068..53468648,2	Hela-S3	cervix:
11	chr11:66798443..66801569-chr11:67083608..67086293,3	MCF-7	breast:
12	chr11:67084571..67085234-chr16:24550448..24551259,2	Hela-S3	cervix:
13	chr11:67083804..67085729-chr11:67159586..67161313,2	K562	blood:
14	chr11:67083503..67085280-chr11:67139881..67141458,2	MCF-7	breast:
15	chr11:67044055..67045017-chr11:67084748..67085251,2	K562	blood:
16	chr11:67083209..67086149-chr11:67119503..67122167,3	MCF-7	breast:
17	chr11:67033233..67034230-chr11:67084691..67085716,7	MCF-7	breast:
18	chr11:67033320..67034577-chr11:67084541..67085675,14	K562	blood:
19	chr11:67081944..67087750-chr11:67116991..67120731,7	K562	blood:
20	chr11:67083271..67086133-chr11:67139925..67142063,3	K562	blood:
21	chr11:66635068..66638065-chr11:67082602..67085288,2	K562	blood:
22	chr11:67083407..67086201-chr11:67167774..67170597,2	MCF-7	breast:
23	chr11:66847489..66850600-chr11:67083579..67086123,3	MCF-7	breast:
24	chr11:66821262..66823223-chr11:67083619..67086226,3	K562	blood:
25	chr11:67029109..67036320-chr11:67082974..67085683,12	K562	blood:
26	chr11:67071126..67071831-chr11:67084719..67085501,2	MCF-7	breast:
27	chr11:67084302..67085218-chr5:56205130..56205946,2	Hela-S3	cervix:
28	chr11:67084485..67085029-chr6:43149175..43150071,2	Hela-S3	cervix:
29	chr11:66927207..66929026-chr11:67082539..67085384,2	K562	blood:
30	chr11:67082881..67085755-chr11:67132076..67134677,2	K562	blood:
31	chr11:67083553..67086793-chr11:67138029..67142134,5	MCF-7	breast:
32	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:
33	chr11:67070532..67071225-chr11:67084673..67085186,2	MCF-7	breast:
34	chr11:66836365..66838201-chr11:67082431..67085361,2	K562	blood:
35	chr11:66821058..66821927-chr11:67084659..67085296,2	K562	blood:
36	chr11:67084192..67086617-chr11:67097875..67100359,2	MCF-7	breast:
37	chr11:67082651..67086060-chr11:67167678..67170594,3	K562	blood:
38	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
39	chr11:67083483..67085064-chr11:67168050..67170653,2	MCF-7	breast:
40	chr11:67039446..67046428-chr11:67082594..67088033,9	K562	blood:
41	chr11:67081941..67085629-chr11:67134607..67137737,4	MCF-7	breast:
42	chr11:67080724..67082915-chr11:67083631..67085541,2	K562	blood:
43	chr11:67083999..67086731-chr11:67160212..67161741,2	MCF-7	breast:
44	chr11:67020501..67023189-chr11:67083754..67086719,3	K562	blood:
45	chr11:67004638..67007561-chr11:67081938..67086220,3	K562	blood:
46	chr11:67084184..67084916-chr21:24182599..24183099,2	Hela-S3	cervix:
47	chr1:153962837..153963554-chr11:67084432..67085315,2	Hela-S3	cervix:
48	chr11:67084449..67085344-chr8:56986750..56987476,2	Hela-S3	cervix:
49	chr11:67083542..67085815-chr11:67116401..67118781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172613	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000122257	Chromatin interaction
ENSG00000103479	Chromatin interaction
ENSG00000008988	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000112659	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000155542	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10896167	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896168	0.84[ASN][1000 genomes]
rs10896169	0.82[ASN][1000 genomes]
rs1115051	0.81[ASN][1000 genomes]
rs11227756	0.84[CHB][hapmap];0.84[CHD][hapmap];0.90[TSI][hapmap]
rs11601700	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12288048	0.88[MEX][hapmap]
rs12288107	0.83[GIH][hapmap]
rs12290164	0.83[GIH][hapmap];0.86[JPT][hapmap]
rs12788752	0.88[CEU][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs12791853	0.83[GIH][hapmap]
rs1540135	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1558256	0.86[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs1638566	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1638567	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1638571	1.00[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs1638574	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1638586	0.83[GIH][hapmap]
rs1790733	0.83[GIH][hapmap]
rs1790737	0.88[MEX][hapmap]
rs1790738	0.88[MEX][hapmap]
rs1790740	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1790747	0.83[GIH][hapmap]
rs1944096	0.88[MEX][hapmap]
rs2066496	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs2071007	0.84[CHB][hapmap];0.84[CHD][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2256154	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2286620	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs2298815	0.83[GIH][hapmap];0.88[MEX][hapmap]
rs2429460	0.81[ASN][1000 genomes]
rs2429462	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514256	0.88[CEU][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap]
rs2514258	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2532605	0.88[MEX][hapmap]
rs3737460	0.83[GIH][hapmap];0.88[MEX][hapmap]
rs3758943	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs3781941	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs3781942	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs3781943	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3909168	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3927807	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4244819	1.00[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap]
rs4255546	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4375446	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs4478996	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs4542419	0.84[CHD][hapmap];0.90[TSI][hapmap]
rs4930192	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930197	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs56337023	0.91[EUR][1000 genomes]
rs674499	1.00[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs7106352	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7480390	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs872110	0.88[CEU][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
7	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
10	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
12	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4930418	RPS6KB2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67083400-67084800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67084000-67084800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:67084000-67085000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:67084000-67085000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:67084000-67085400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:67084000-67085600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:67084000-67085600	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:67084000-67085600	Active TSS	Osteobl	bone
9	chr11:67084000-67085800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:67084000-67085800	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:67084000-67085800	Active TSS	Fetal Intestine Large	intestine
12	chr11:67084000-67085800	Active TSS	Fetal Intestine Small	intestine
13	chr11:67084000-67085800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:67084000-67086000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:67084000-67086000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:67084000-67086000	Active TSS	A549	lung
17	chr11:67084000-67086000	Active TSS	HepG2	liver
18	chr11:67084200-67085000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:67084200-67085000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:67084200-67085400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:67084200-67085400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:67084200-67085400	Active TSS	Dnd41	blood
23	chr11:67084200-67085600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:67084200-67085600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr11:67084200-67085800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:67084200-67085800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:67084200-67085800	Active TSS	Hela-S3	cervix
28	chr11:67084200-67085800	Active TSS	K562	blood
29	chr11:67084200-67085800	Active TSS	NHEK	skin
30	chr11:67084200-67086200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:67084200-67086200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:67084400-67084800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:67084400-67084800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr11:67084400-67084800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:67084400-67084800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:67084400-67084800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:67084400-67084800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:67084400-67084800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:67084400-67084800	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr11:67084400-67084800	Flanking Active TSS	Fetal Thymus	thymus
41	chr11:67084400-67084800	Active TSS	Right Atrium	heart
42	chr11:67084400-67085000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:67084400-67085000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr11:67084400-67085000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:67084400-67085000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:67084400-67085000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:67084400-67085000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr11:67084400-67085000	Flanking Active TSS	HMEC	breast
49	chr11:67084400-67085000	Active TSS	NH-A	brain
50	chr11:67084400-67085200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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