Variant report

Variant	rs61891565
Chromosome Location	chr11:67058114-67058115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
3	POLR2A	chr11:67054042-67058114	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:67057637-67058734	GM12878	blood:	n/a	n/a
5	MYC	chr11:67057961-67058120	NB4	blood:	n/a	n/a
6	POLR2A	chr11:67058038-67058696	K562	blood:	n/a	n/a
7	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
2	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
3	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
4	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
5	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:

No data

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17881103	0.83[AMR][1000 genomes]
rs56389755	0.83[AMR][1000 genomes]
rs61891302	1.00[ASN][1000 genomes]
rs72926941	1.00[ASN][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	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
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3404977	chr11:67055801-67058349	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67057000-67059200	Enhancers	Fetal Brain Male	brain
2	chr11:67057200-67058200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67057200-67058200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:67057200-67058200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr11:67057200-67058400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:67057200-67058600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:67057200-67058600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:67057200-67059000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr11:67057400-67058200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:67057400-67058200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
11	chr11:67057400-67058200	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr11:67057400-67058400	Flanking Active TSS	Esophagus	oesophagus
13	chr11:67057400-67058600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:67057400-67058600	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr11:67057400-67060000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:67057400-67060000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:67057600-67058200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67057600-67058200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:67057600-67058200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
20	chr11:67057600-67058200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
21	chr11:67057600-67058200	Enhancers	Liver	Liver
22	chr11:67057600-67058200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
23	chr11:67057600-67058200	Genic enhancers	Lung	lung
24	chr11:67057600-67058200	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr11:67057600-67058200	Transcr. at gene 5' and 3'	NHEK	skin
26	chr11:67057600-67058400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:67057600-67058400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:67057600-67058600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
29	chr11:67057600-67058600	Enhancers	Stomach Mucosa	stomach
30	chr11:67057600-67058600	Transcr. at gene 5' and 3'	Spleen	Spleen
31	chr11:67057600-67058800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
32	chr11:67057600-67059200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:67057600-67059800	Genic enhancers	Placenta Amnion	Placenta Amnion
34	chr11:67057600-67060000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:67057600-67060800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
36	chr11:67057600-67061000	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr11:67057600-67062600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:67057600-67063200	Weak transcription	Fetal Kidney	kidney
39	chr11:67057600-67067000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:67057600-67069200	Weak transcription	Psoas Muscle	Psoas
41	chr11:67057800-67058200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:67057800-67058200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
43	chr11:67057800-67058200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:67057800-67058200	Transcr. at gene 5' and 3'	HSMMtube	muscle
45	chr11:67057800-67058400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:67057800-67058400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:67057800-67058400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr11:67057800-67058400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:67057800-67058400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:67057800-67058400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast

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