Variant report

Variant	rs61758504
Chromosome Location	chr11:67033232-67033233
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	chr11:67033099-67034068	A549	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
2	NR2F2	chr11:67033079-67034068	MCF-7	breast:	n/a	n/a
3	STAT3	chr11:67033152-67033352	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT5A	chr11:67032956-67033829	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:67033123-67033975	GM12878	blood:	n/a	n/a
6	PML	chr11:67033183-67033739	GM12878	blood:	n/a	n/a
7	HCFC1	chr11:67033056-67034902	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:67033100-67033250	HPF	lung:	n/a	n/a
9	RCOR1	chr11:67033230-67033237	HepG2	liver:	n/a	n/a
10	HNF4A	chr11:67033100-67033295	HepG2	liver:	n/a	chr11:67033227-67033240 chr11:67033226-67033241 chr11:67033227-67033240
11	SMC3	chr11:67033190-67034071	SK-N-SH	brain:	n/a	chr11:67033809-67033819 chr11:67033805-67033819
12	CTCF	chr11:67033180-67033330	AoAF	blood vessel:	n/a	n/a
13	RAD21	chr11:67033216-67034083	SK-N-SH	brain:	n/a	chr11:67033804-67033823 chr11:67033809-67033821 chr11:67033809-67033819 chr11:67033807-67033820 chr11:67033805-67033819
14	NR2F2	chr11:67033043-67033430	K562	blood:	n/a	n/a
15	CTCF	chr11:67033220-67033370	AG10803	skin:	n/a	n/a
16	CTCF	chr11:67033220-67033370	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:67033160-67033310	BJ	skin:	n/a	n/a
18	CTCF	chr11:67033116-67034588	SK-N-SH	brain:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
19	MTA3	chr11:67033132-67033961	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
5	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
6	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
7	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10128545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	1.00[AMR][1000 genomes]
rs11227705	1.00[AMR][1000 genomes]
rs11227708	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227734	1.00[AMR][1000 genomes]
rs11227739	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	1.00[AMR][1000 genomes]
rs11227754	1.00[AMR][1000 genomes]
rs11501507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	1.00[AMR][1000 genomes]
rs12274690	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12282851	1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284546	0.84[AFR][1000 genomes]
rs12285582	1.00[AMR][1000 genomes]
rs12286106	1.00[AMR][1000 genomes]
rs12286762	1.00[AMR][1000 genomes]
rs12287003	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287355	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293258	1.00[AMR][1000 genomes]
rs12294777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730309	1.00[AMR][1000 genomes]
rs3730310	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	1.00[AMR][1000 genomes]
rs7928575	1.00[AMR][1000 genomes]
rs7945629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67033600	Enhancers	HMEC	breast
3	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
5	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
6	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
7	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
10	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:67030400-67033400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:67030600-67033400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:67030600-67033400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:67030600-67033400	Weak transcription	Fetal Kidney	kidney
15	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67030800-67033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67030800-67033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:67030800-67033400	Weak transcription	A549	lung
20	chr11:67030800-67033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:67030800-67033600	Weak transcription	Right Atrium	heart
22	chr11:67030800-67034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:67031000-67033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:67031000-67033400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:67031000-67033400	Weak transcription	Left Ventricle	heart
26	chr11:67031000-67033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:67031000-67033600	Weak transcription	HUVEC	blood vessel
28	chr11:67031000-67034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:67031000-67034000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:67031000-67034200	Weak transcription	Gastric	stomach
31	chr11:67031200-67033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:67031200-67033400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:67031200-67033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:67031200-67033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:67031200-67033400	Weak transcription	NH-A	brain
36	chr11:67031400-67033400	Weak transcription	Primary B cells from cord blood	blood
37	chr11:67031400-67033400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:67031400-67033400	Weak transcription	HSMMtube	muscle
39	chr11:67031400-67033400	Weak transcription	Osteobl	bone
40	chr11:67031400-67033600	Weak transcription	HSMM	muscle
41	chr11:67031600-67033400	Weak transcription	NHDF-Ad	bronchial
42	chr11:67032200-67033400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:67032600-67033400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr11:67032600-67033600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:67032600-67033600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:67032600-67033600	Enhancers	NHLF	lung
47	chr11:67032800-67033400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr11:67032800-67034000	Enhancers	Fetal Brain Male	brain
49	chr11:67033000-67033600	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:67033000-67033600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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