Variant report

Variant	rs11909545
Chromosome Location	chr21:44891718-44891719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:44891548-44891780	GM12878	blood:	n/a	n/a
2	CTCF	chr21:44891522-44891742	K562	blood:	n/a	n/a
3	CTCF	chr21:44891600-44891750	AoAF	blood vessel:	n/a	n/a
4	ELF1	chr21:44891531-44891884	K562	blood:	n/a	chr21:44891697-44891710
5	CTCF	chr21:44891571-44891729	IMR90	lung:	n/a	n/a
6	CTCF	chr21:44891600-44891750	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr21:44891640-44891930	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr21:44891580-44891730	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr21:44891620-44891770	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr21:44891600-44891750	HMEC	breast:	n/a	n/a
11	RAD21	chr21:44891610-44891810	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr21:44891620-44891770	HAc	cerebellar:	n/a	n/a
13	CTCF	chr21:44891660-44891810	HMF	breast:	n/a	n/a
14	CTCF	chr21:44891640-44891790	HCM	heart:	n/a	n/a
15	CTCF	chr21:44891580-44891730	HMF	breast:	n/a	n/a
16	CTCF	chr21:44891572-44891745	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr21:44891680-44891830	HRE	kidney:	n/a	n/a
18	CTCF	chr21:44891620-44891770	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr21:44891600-44891750	AG04450	lung:	n/a	n/a
20	CTCF	chr21:44891619-44891748	K562	blood:	n/a	n/a
21	RAD21	chr21:44891427-44891868	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr21:44891521-44891783	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44891072..44892849-chr21:44897824..44900238,2	MCF-7	breast:
2	chr21:44883152..44886989-chr21:44891173..44894639,3	K562	blood:
3	chr21:44868612..44870635-chr21:44890162..44893361,3	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00313	TF binding region
ENSG00000185186	Chromatin interaction
ENSG00000188660	Chromatin interaction
ENSG00000223975	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11908893	1.00[ASW][hapmap]
rs11911523	1.00[YRI][hapmap]
rs11911560	1.00[ASW][hapmap]
rs17004566	1.00[CEU][hapmap]
rs17004600	1.00[ASW][hapmap]
rs2838309	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2838312	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7278754	1.00[CEU][hapmap]
rs7280767	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9981138	1.00[CEU][hapmap]
rs9983666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
5	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS 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	98 gene(s)	inside rSNPs	diseases
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
14	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44885600-44894000	Weak transcription	Hela-S3	cervix
2	chr21:44888000-44891800	Enhancers	Fetal Intestine Large	intestine
3	chr21:44888000-44894000	Weak transcription	A549	lung
4	chr21:44888000-44897200	Weak transcription	HUVEC	blood vessel
5	chr21:44888200-44892600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:44888400-44892000	Weak transcription	Fetal Kidney	kidney
7	chr21:44889000-44897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44890000-44893000	Weak transcription	HSMM	muscle
9	chr21:44890000-44896600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:44890200-44897000	Weak transcription	Stomach Mucosa	stomach
11	chr21:44890200-44897200	Weak transcription	Spleen	Spleen
12	chr21:44890200-44897200	Weak transcription	NHEK	skin
13	chr21:44890400-44892400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:44890400-44892400	Strong transcription	HSMMtube	muscle
15	chr21:44890400-44892600	Enhancers	Lung	lung
16	chr21:44890400-44896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:44890800-44892200	Enhancers	Fetal Stomach	stomach
18	chr21:44891000-44891800	Active TSS	Stomach Smooth Muscle	stomach
19	chr21:44891000-44892200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:44891000-44892400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr21:44891000-44892600	Enhancers	Psoas Muscle	Psoas
22	chr21:44891200-44892000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr21:44891200-44892200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:44891200-44892400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:44891200-44892600	Enhancers	Right Atrium	heart
26	chr21:44891200-44892800	Enhancers	HepG2	liver
27	chr21:44891400-44891800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:44891400-44891800	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr21:44891400-44892000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr21:44891400-44892000	Enhancers	Fetal Intestine Small	intestine
31	chr21:44891400-44892000	Enhancers	Placenta	Placenta
32	chr21:44891400-44892200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:44891400-44892200	Enhancers	Fetal Lung	lung
34	chr21:44891400-44892400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:44891400-44892400	Enhancers	Adipose Nuclei	Adipose
36	chr21:44891400-44892600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:44891400-44892600	Enhancers	Fetal Thymus	thymus
38	chr21:44891400-44896200	Weak transcription	Right Ventricle	heart
39	chr21:44891600-44891800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr21:44891600-44891800	Enhancers	NH-A	brain
41	chr21:44891600-44892000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:44891600-44892000	Enhancers	Colon Smooth Muscle	Colon
43	chr21:44891600-44892600	Enhancers	Left Ventricle	heart
44	chr21:44891600-44892600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr21:44891600-44897000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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