Variant report

Variant	rs61758508
Chromosome Location	chr11:67036184-67036185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67034689-67036529	GM12892	blood:	n/a	n/a
2	SPI1	chr11:67035448-67036390	GM12878	blood:	n/a	chr11:67036180-67036193
3	FOXM1	chr11:67034690-67036217	GM12878	blood:	n/a	n/a
4	BCLAF1	chr11:67035562-67036310	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67034726-67037261	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
7	EP300	chr11:67035028-67036241	GM12878	blood:	n/a	n/a
8	TBP	chr11:67034988-67036219	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
10	IRF4	chr11:67035608-67036225	GM12878	blood:	n/a	n/a
11	NFIC	chr11:67034881-67036388	GM12878	blood:	n/a	n/a
12	TCF12	chr11:67035706-67036209	GM12878	blood:	n/a	n/a
13	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
14	STAT5A	chr11:67035007-67036269	GM12878	blood:	n/a	chr11:67035955-67035963
15	POLR2A	chr11:67034704-67036295	GM12891	blood:	n/a	n/a
16	EBF1	chr11:67034840-67036192	GM12878	blood:	n/a	n/a
17	MTA3	chr11:67034476-67036629	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67034869-67036207	GM18951	blood:	n/a	n/a
19	TCF12	chr11:67035759-67036231	GM12878	blood:	n/a	n/a
20	BCL3	chr11:67035678-67036247	GM12878	blood:	n/a	n/a
21	CTCF	chr11:67036160-67036310	NB4	blood:	n/a	n/a
22	POLR2A	chr11:67035913-67036215	K562	blood:	n/a	n/a
23	STAT5A	chr11:67034406-67037282	GM12878	blood:	n/a	chr11:67035955-67035963
24	MAX	chr11:67035548-67036244	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67034482-67038045	GM12892	blood:	n/a	n/a
26	TAF1	chr11:67035672-67036244	GM12878	blood:	n/a	n/a
27	NFIC	chr11:67035451-67036270	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:67034922-67036229	GM19193	blood:	n/a	n/a
29	MAX	chr11:67034816-67036503	NB4	blood:	n/a	n/a
30	RUNX3	chr11:67034743-67036352	GM12878	blood:	n/a	n/a
31	YY1	chr11:67035601-67036224	GM12878	blood:	n/a	chr11:67036121-67036130
32	POU2F2	chr11:67035377-67036242	GM12891	blood:	n/a	n/a
33	EBF1	chr11:67034988-67036269	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67034945-67036197	GM12878	blood:	n/a	n/a
35	ETS1	chr11:67035711-67036190	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:67034773-67036450	GM12878	blood:	n/a	n/a
37	SP1	chr11:67035621-67036215	GM12878	blood:	n/a	chr11:67036053-67036062
38	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
39	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
40	MYC	chr11:67034788-67036506	NB4	blood:	n/a	n/a
41	RELA	chr11:67034976-67036379	GM18505	blood:	n/a	n/a
42	RELA	chr11:67035699-67036317	GM10847	blood:	n/a	n/a
43	RELA	chr11:67035015-67036298	GM19099	blood:	n/a	n/a
44	SPI1	chr11:67035573-67036584	HL-60	blood:	n/a	chr11:67036180-67036193
45	PML	chr11:67035783-67036197	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:67033810-67036220	GM12878	blood:	n/a	n/a
47	RCOR1	chr11:67035105-67036343	GM12878	blood:	n/a	n/a
48	PAX5	chr11:67035430-67036289	GM12878	blood:	n/a	n/a
49	JUND	chr11:67035462-67036391	GM12878	blood:	n/a	n/a
50	CEBPB	chr11:67035457-67036313	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
2	chr11:67035184..67037391-chr11:67122258..67124075,2	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:66833065..66835047-chr11:67034731..67036548,2	MCF-7	breast:
5	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
6	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
7	chr11:67035911..67036506-chr16:70557376..70558236,2	NB4	blood:
8	chr11:62608653..62609624-chr11:67035797..67036475,2	NB4	blood:
9	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000133316	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10896161	0.84[EUR][1000 genomes]
rs10896165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227696	0.87[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227732	0.84[EUR][1000 genomes]
rs11227740	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227750	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227770	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282264	0.84[EUR][1000 genomes]
rs3730145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56132056	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61758503	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889551	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs61891586	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891588	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891589	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs7127431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630209	1.00[ASN][1000 genomes]

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	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	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67034400-67036400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:67034400-67036400	Flanking Active TSS	Colonic Mucosa	Colon
3	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:67034600-67036400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr11:67034600-67036800	Flanking Active TSS	Liver	Liver
7	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr11:67034800-67036200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:67034800-67037800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:67034800-67038200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:67034800-67039000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:67034800-67039800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
15	chr11:67034800-67041000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:67035000-67036200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:67035000-67036200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:67035000-67036600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr11:67035000-67037000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
20	chr11:67035000-67037200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:67035000-67037400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
23	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Thymus	Thymus
26	chr11:67035000-67040800	Weak transcription	Ovary	ovary
27	chr11:67035200-67036200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:67035200-67037000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
29	chr11:67035200-67037200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:67035200-67037200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
31	chr11:67035200-67037400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr11:67035200-67037600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:67035200-67037600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
34	chr11:67035200-67037800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
35	chr11:67035200-67039400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:67035200-67039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:67035200-67039600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67035200-67039800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
39	chr11:67035200-67040400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
40	chr11:67035400-67036200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
41	chr11:67035400-67036400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:67035400-67036400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:67035400-67036400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:67035400-67036600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:67035400-67036800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:67035400-67036800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:67035400-67036800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:67035400-67036800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:67035400-67037000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:67035400-67037200	Weak transcription	Aorta	Aorta

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