Variant report

Variant	rs948988
Chromosome Location	chr11:67045472-67045473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:67045400-67045550	GM12873	blood:	n/a	n/a
2	POLR2A	chr11:67044609-67045710	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67044117-67045544	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr11:67044369-67045491	GM18526	blood:	n/a	n/a
5	POLR2A	chr11:67044125-67045620	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:67042842-67046261	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:67045330-67045678	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:67044103-67045707	K562	blood:	n/a	n/a
10	POU2F2	chr11:67044649-67045530	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67044190-67045826	GM18505	blood:	n/a	n/a
12	POLR2A	chr11:67044856-67045489	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:67044085-67046238	GM12891	blood:	n/a	n/a
14	RELA	chr11:67044356-67045579	GM18951	blood:	n/a	n/a
15	MAZ	chr11:67044257-67045620	IMR90	lung:	n/a	n/a
16	STAT5A	chr11:67044270-67045511	GM12878	blood:	n/a	chr11:67045198-67045210
17	POLR2A	chr11:67044095-67046434	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67044346-67045586	GM12892	blood:	n/a	n/a
19	ZMIZ1	chr11:67044404-67045625	K562	blood:	n/a	n/a
20	MAX	chr11:67044086-67045478	NB4	blood:	n/a	chr11:67044379-67044389 chr11:67044354-67044364
21	MAX	chr11:67044168-67045517	GM12878	blood:	n/a	chr11:67044379-67044389 chr11:67044354-67044364
22	POLR2A	chr11:67044312-67045592	HUVEC	blood vessel:	n/a	n/a
23	POU2F2	chr11:67044581-67045933	GM12891	blood:	n/a	n/a
24	ELF1	chr11:67044089-67045768	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67044133-67045753	PFSK-1	brain:	n/a	n/a
26	MTA3	chr11:67043901-67046211	GM12878	blood:	n/a	n/a
27	CBX3	chr11:67044112-67045819	K562	blood:	n/a	n/a
28	TEAD4	chr11:67044181-67045498	K562	blood:	n/a	n/a
29	STAT5A	chr11:67045133-67045615	GM12878	blood:	n/a	chr11:67045198-67045210
30	FOXP2	chr11:67044776-67045473	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr11:67044226-67045712	GM12891	blood:	n/a	n/a
32	PML	chr11:67043923-67045627	GM12878	blood:	n/a	n/a
33	FOXM1	chr11:67044663-67045496	GM12878	blood:	n/a	n/a
34	PAX5	chr11:67045419-67045743	GM12878	blood:	n/a	n/a
35	NR2F2	chr11:67044032-67045614	K562	blood:	n/a	n/a
36	POLR2A	chr11:67044051-67045798	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:67044128-67046405	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:67044098-67045743	K562	blood:	n/a	n/a
39	MAX	chr11:67044834-67045499	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:67042905-67049648	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:67044177-67045625	GM19193	blood:	n/a	n/a
42	POLR2A	chr11:67044820-67045667	Raji	blood:	n/a	n/a
43	POLR2A	chr11:67044176-67045728	GM12892	blood:	n/a	n/a
44	REST	chr11:67044759-67045555	HL-60	blood:	n/a	n/a
45	POLR2A	chr11:67044104-67045907	GM12891	blood:	n/a	n/a
46	HEY1	chr11:67044169-67045605	K562	blood:	n/a	chr11:67044541-67044556 chr11:67045112-67045127
47	RUNX3	chr11:67044147-67045535	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:67044053-67047081	K562	blood:	n/a	n/a
49	POLR2A	chr11:67044049-67045719	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:67044772-67046167	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67041964..67046049-chr11:67065840..67069328,4	K562	blood:
2	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
3	chr11:67044110..67045682-chr11:67070507..67072477,2	K562	blood:
4	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172830	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10128545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227708	1.00[AMR][1000 genomes]
rs11227734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11501507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	1.00[AMR][1000 genomes]
rs12274763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.83[AMR][1000 genomes]
rs12282851	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	1.00[AMR][1000 genomes]
rs12284546	0.87[ASW][hapmap];0.80[LWK][hapmap];0.95[MKK][hapmap];0.81[YRI][hapmap]
rs12285582	0.93[ASW][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286106	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286664	0.91[MKK][hapmap]
rs12286762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287003	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287649	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs12289324	0.91[MKK][hapmap]
rs12290300	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292708	0.89[AFR][1000 genomes]
rs12293258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294777	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928575	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945629	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
3	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach
4	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
5	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:67038400-67045800	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:67041800-67045800	Enhancers	Fetal Heart	heart
9	chr11:67042000-67045800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:67042200-67045600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:67042400-67045600	Genic enhancers	Pancreas	Pancrea
12	chr11:67042400-67046800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:67042400-67048000	Genic enhancers	Lung	lung
14	chr11:67043000-67045600	Enhancers	Brain Angular Gyrus	brain
15	chr11:67043000-67045800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr11:67043000-67048000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:67043200-67045800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:67043200-67046000	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr11:67043200-67046400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:67043200-67047000	Weak transcription	Ovary	ovary
21	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:67043600-67045600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:67043600-67045600	Genic enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:67043600-67045800	Enhancers	Small Intestine	intestine
25	chr11:67043600-67045800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
26	chr11:67043600-67046400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:67043600-67047600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:67043800-67045800	Enhancers	Fetal Lung	lung
29	chr11:67043800-67046000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:67044000-67045600	Enhancers	Gastric	stomach
31	chr11:67044000-67045800	Genic enhancers	Fetal Intestine Large	intestine
32	chr11:67044000-67046000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
33	chr11:67044000-67046000	Flanking Active TSS	Thymus	Thymus
34	chr11:67044200-67045600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr11:67044200-67045600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67044200-67045600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr11:67044200-67045600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:67044200-67045600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:67044200-67045600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
42	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
43	chr11:67044200-67045600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:67044200-67045600	Enhancers	NH-A	brain
45	chr11:67044200-67045800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr11:67044200-67045800	Flanking Active TSS	HSMM	muscle
47	chr11:67044200-67046200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:67044200-67046200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
49	chr11:67044200-67053400	Strong transcription	HepG2	liver
50	chr11:67044400-67045600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood

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