Variant report

Variant	rs56337023
Chromosome Location	chr11:67045238-67045239
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	POLR2A	chr11:67044298-67045466	GM15510	blood:	n/a	n/a
2	SPI1	chr11:67044797-67045465	HL-60	blood:	n/a	n/a
3	SIN3AK20	chr11:67044877-67045350	K562	blood:	n/a	n/a
4	POLR2A	chr11:67044609-67045710	GM12878	blood:	n/a	n/a
5	YY1	chr11:67044815-67045427	GM12892	blood:	n/a	n/a
6	CEBPB	chr11:67044806-67045368	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67044117-67045544	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:67044369-67045491	GM18526	blood:	n/a	n/a
9	MAX	chr11:67044094-67045457	K562	blood:	n/a	chr11:67044379-67044389 chr11:67044354-67044364
10	PML	chr11:67045119-67045396	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67044125-67045620	HUVEC	blood vessel:	n/a	n/a
12	CHD1	chr11:67044743-67045457	GM12878	blood:	n/a	n/a
13	EP300	chr11:67044820-67045279	GM12878	blood:	n/a	chr11:67045120-67045136
14	POLR2A	chr11:67042842-67046261	GM12892	blood:	n/a	n/a
15	E2F4	chr11:67045074-67045254	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr11:67045062-67045266	HUVEC	blood vessel:	n/a	n/a
17	HCFC1	chr11:67044416-67045301	K562	blood:	n/a	n/a
18	STAT3	chr11:67045020-67045295	MCF10A-Er-Src	breast:	n/a	chr11:67045198-67045210
19	SIN3A	chr11:67044796-67045359	GM12878	blood:	n/a	n/a
20	TBP	chr11:67044981-67045316	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3AK20	chr11:67044908-67045366	H1-hESC	embryonic stem cell:	n/a	n/a
22	TRIM28	chr11:67044787-67045344	K562	blood:	n/a	n/a
23	NRF1	chr11:67044873-67045333	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:67044299-67045471	GM19099	blood:	n/a	n/a
25	TBL1XR1	chr11:67044399-67045246	GM12878	blood:	n/a	n/a
26	SP1	chr11:67044817-67045371	GM12878	blood:	n/a	chr11:67045197-67045206 chr11:67045026-67045035 chr11:67045202-67045211 chr11:67045154-67045166 chr11:67045156-67045165 chr11:67045197-67045207 chr11:67045022-67045036 chr11:67045197-67045206 chr11:67045026-67045036 chr11:67045154-67045166 chr11:67045198-67045207 chr11:67045196-67045208 chr11:67045196-67045208 chr11:67044864-67044878 chr11:67045151-67045165
27	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:67044103-67045707	K562	blood:	n/a	n/a
29	EBF1	chr11:67044201-67045437	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67044896-67045467	GM10847	blood:	n/a	n/a
31	RCOR1	chr11:67044369-67045371	K562	blood:	n/a	n/a
32	FOXP2	chr11:67044815-67045403	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr11:67045235-67045266	ProgFib	skin:	n/a	n/a
34	TCF12	chr11:67044821-67045377	GM12878	blood:	n/a	n/a
35	SPI1	chr11:67044873-67045241	HL-60	blood:	n/a	n/a
36	STAT3	chr11:67045038-67045290	MCF10A-Er-Src	breast:	n/a	chr11:67045198-67045210
37	GABPA	chr11:67044759-67045434	K562	blood:	n/a	n/a
38	CTCF	chr11:67045120-67045270	HBMEC	blood vessel:	n/a	n/a
39	USF2	chr11:67045059-67045375	GM12878	blood:	n/a	chr11:67045113-67045129
40	POU2F2	chr11:67044649-67045530	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:67044190-67045826	GM18505	blood:	n/a	n/a
42	BCLAF1	chr11:67044749-67045413	GM12878	blood:	n/a	n/a
43	ELF1	chr11:67044854-67045360	K562	blood:	n/a	n/a
44	RELA	chr11:67044857-67045450	GM12891	blood:	n/a	n/a
45	POLR2A	chr11:67044856-67045489	HUVEC	blood vessel:	n/a	n/a
46	EP300	chr11:67044821-67045318	GM12878	blood:	n/a	chr11:67045120-67045136
47	POLR2A	chr11:67044085-67046238	GM12891	blood:	n/a	n/a
48	TCF3	chr11:67044886-67045377	GM12878	blood:	n/a	n/a
49	RELA	chr11:67044356-67045579	GM18951	blood:	n/a	n/a
50	YY1	chr11:67044384-67045466	K562	blood:	n/a	chr11:67044543-67044552

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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10896164	0.88[AMR][1000 genomes]
rs10896167	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896168	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10896169	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11601700	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11608094	0.82[AMR][1000 genomes]
rs12788752	0.82[AMR][1000 genomes]
rs1540135	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1638566	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1638567	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1638571	0.81[AMR][1000 genomes]
rs1638574	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1790740	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071007	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2429460	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2429462	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514258	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781941	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3781942	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3781943	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909168	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3927807	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4024520	0.81[ASN][1000 genomes]
rs4244819	0.84[ASN][1000 genomes]
rs4255546	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4375446	0.86[ASN][1000 genomes]
rs4478996	0.84[ASN][1000 genomes]
rs4503557	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4542419	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930192	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930197	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930418	0.91[EUR][1000 genomes]
rs608273	0.84[ASN][1000 genomes]
rs646834	0.84[ASN][1000 genomes]
rs6591232	0.84[ASN][1000 genomes]
rs6591239	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs660960	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs674499	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7106352	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7113390	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484186	0.82[ASN][1000 genomes]
rs7930829	0.86[ASN][1000 genomes]
rs9943601	0.86[ASN][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	chr11:67040800-67045400	Enhancers	Placenta	Placenta
9	chr11:67041800-67045800	Enhancers	Fetal Heart	heart
10	chr11:67042000-67045800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:67042200-67045600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:67042400-67045600	Genic enhancers	Pancreas	Pancrea
13	chr11:67042400-67046800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:67042400-67048000	Genic enhancers	Lung	lung
15	chr11:67042600-67045400	Genic enhancers	Fetal Brain Female	brain
16	chr11:67042800-67045400	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:67043000-67045600	Enhancers	Brain Angular Gyrus	brain
18	chr11:67043000-67045800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:67043000-67048000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:67043200-67045800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:67043200-67046000	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr11:67043200-67046400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:67043200-67047000	Weak transcription	Ovary	ovary
24	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:67043600-67045600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:67043600-67045600	Genic enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:67043600-67045800	Enhancers	Small Intestine	intestine
28	chr11:67043600-67045800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr11:67043600-67046400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:67043600-67047600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:67043800-67045800	Enhancers	Fetal Lung	lung
32	chr11:67043800-67046000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:67044000-67045600	Enhancers	Gastric	stomach
34	chr11:67044000-67045800	Genic enhancers	Fetal Intestine Large	intestine
35	chr11:67044000-67046000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
36	chr11:67044000-67046000	Flanking Active TSS	Thymus	Thymus
37	chr11:67044200-67045400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr11:67044200-67045400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:67044200-67045400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:67044200-67045600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:67044200-67045600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:67044200-67045600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr11:67044200-67045600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:67044200-67045600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:67044200-67045600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
48	chr11:67044200-67045600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
49	chr11:67044200-67045600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:67044200-67045600	Enhancers	NH-A	brain

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