Variant report

Variant	rs11909757
Chromosome Location	chr21:37694144-37694145
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	RUNX3	chr21:37693900-37694455	GM12878	blood:	n/a	n/a
2	EGR1	chr21:37693915-37694322	K562	blood:	n/a	chr21:37694138-37694151
3	REST	chr21:37694120-37694385	H1-hESC	embryonic stem cell:	n/a	chr21:37694250-37694259
4	ZNF384	chr21:37693005-37694224	K562	blood:	n/a	n/a
5	GATA2	chr21:37693990-37694473	SH-SY5Y	brain:	n/a	chr21:37694193-37694206
6	UBTF	chr21:37693888-37694365	K562	blood:	n/a	n/a
7	UBTF	chr21:37692050-37694381	K562	blood:	n/a	n/a
8	TAF1	chr21:37693984-37694390	H1-hESC	embryonic stem cell:	n/a	n/a
9	SPI1	chr21:37693936-37694185	GM12891	blood:	n/a	chr21:37694133-37694146
10	POLR2A	chr21:37693940-37694489	K562	blood:	n/a	n/a
11	POLR2A	chr21:37694138-37694304	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr21:37693927-37694462	K562	blood:	n/a	n/a
13	MAX	chr21:37694064-37694459	H1-hESC	embryonic stem cell:	n/a	chr21:37694257-37694267
14	MAFK	chr21:37692915-37694367	K562	blood:	n/a	n/a
15	MAX	chr21:37693893-37694436	K562	blood:	n/a	chr21:37694257-37694267
16	REST	chr21:37694107-37694405	SK-N-SH	brain:	n/a	chr21:37694250-37694259
17	HDAC2	chr21:37693941-37694252	K562	blood:	n/a	n/a
18	POLR2A	chr21:37693954-37694410	K562	blood:	n/a	n/a
19	NR2F2	chr21:37693925-37694630	K562	blood:	n/a	n/a
20	POLR2A	chr21:37693953-37694395	K562	blood:	n/a	n/a
21	ARID3A	chr21:37693021-37694455	K562	blood:	n/a	n/a
22	REST	chr21:37694118-37694323	H1-hESC	embryonic stem cell:	n/a	chr21:37694250-37694259
23	MYC	chr21:37694066-37694421	NB4	blood:	n/a	chr21:37694257-37694267
24	MAX	chr21:37694055-37694359	GM12878	blood:	n/a	chr21:37694257-37694267
25	EGR1	chr21:37693985-37694274	K562	blood:	n/a	chr21:37694138-37694151
26	POLR2A	chr21:37693946-37694479	K562	blood:	n/a	n/a
27	TBL1XR1	chr21:37692996-37694525	K562	blood:	n/a	n/a
28	TAF1	chr21:37693958-37694329	K562	blood:	n/a	n/a
29	POLR2A	chr21:37694132-37694355	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr21:37694038-37694210	K562	blood:	n/a	n/a
31	GABPA	chr21:37693971-37694508	K562	blood:	n/a	n/a
32	MXI1	chr21:37691928-37694708	SK-N-SH	brain:	n/a	n/a
33	CBX3	chr21:37693866-37694428	K562	blood:	n/a	n/a
34	RCOR1	chr21:37693902-37694505	K562	blood:	n/a	n/a
35	HCFC1	chr21:37691851-37694447	Hela-S3	cervix:	n/a	n/a
36	MYC	chr21:37693907-37694555	K562	blood:	n/a	chr21:37694257-37694267
37	IRF1	chr21:37692016-37694546	K562	blood:	n/a	chr21:37692805-37692819 chr21:37694133-37694147 chr21:37693289-37693303 chr21:37692808-37692822 chr21:37692809-37692819 chr21:37692809-37692823 chr21:37692437-37692451
38	GATA3	chr21:37694080-37694498	T-47D	breast:	n/a	chr21:37694193-37694206
39	RCOR1	chr21:37693933-37694501	K562	blood:	n/a	n/a
40	EP300	chr21:37693915-37694466	K562	blood:	n/a	chr21:37694102-37694111
41	POLR2A	chr21:37693907-37694492	K562	blood:	n/a	n/a
42	NR2F2	chr21:37693879-37694534	K562	blood:	n/a	n/a
43	ZNF143	chr21:37693980-37694334	GM12878	blood:	n/a	chr21:37694271-37694286
44	ZNF143	chr21:37692896-37694244	K562	blood:	n/a	chr21:37693049-37693067 chr21:37692953-37692971
45	GATA1	chr21:37693914-37694519	PBDE	blood:	n/a	chr21:37694193-37694206
46	KAP1	chr21:37693103-37694339	HEK293	kidney:	n/a	n/a
47	STAT3	chr21:37693034-37694371	MCF10A-Er-Src	breast:	n/a	chr21:37693201-37693212 chr21:37694133-37694145 chr21:37693200-37693214
48	GATA2	chr21:37693949-37694568	K562	blood:	n/a	chr21:37694193-37694206
49	MXI1	chr21:37694044-37694334	HepG2	liver:	n/a	n/a
50	MXI1	chr21:37694121-37694365	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:37691256..37694526-chr21:37756773..37759502,4	K562	blood:
2	chr21:37504506..37509965-chr21:37691548..37695939,8	MCF-7	breast:
3	chr21:37431156..37433849-chr21:37691646..37694370,2	MCF-7	breast:
4	chr21:37526803..37530706-chr21:37691661..37694451,10	MCF-7	breast:
5	chr21:37691326..37694342-chr21:37717275..37721197,4	MCF-7	breast:
6	chr21:37664802..37668614-chr21:37691689..37695476,4	K562	blood:
7	chr21:37692840..37695244-chr21:37717981..37720346,2	K562	blood:
8	chr21:37690897..37695461-chr21:37701805..37709412,12	MCF-7	breast:
9	chr21:37692751..37694266-chr21:38444083..38446498,2	K562	blood:
10	chr21:37690927..37695092-chr21:37755797..37759502,6	K562	blood:

Variant related genes	Relation type
ENSG00000273199	TF binding region
ENSG00000159231	Chromatin interaction
ENSG00000214867	Chromatin interaction
ENSG00000236830	Chromatin interaction
ENSG00000142197	Chromatin interaction
ENSG00000182670	Chromatin interaction
ENSG00000214889	Chromatin interaction
ENSG00000236677	Chromatin interaction
ENSG00000159256	Chromatin interaction
ENSG00000185917	Chromatin interaction
ENSG00000159259	Chromatin interaction
ENSG00000185808	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10483033	1.00[EUR][1000 genomes]
rs11909470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910447	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381587	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381588	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381599	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383714	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383715	1.00[EUR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr21:37691600-37694200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:37691800-37694200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr21:37691800-37694200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:37691800-37694200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:37691800-37694200	Active TSS	Colonic Mucosa	Colon
6	chr21:37691800-37694200	Active TSS	Fetal Brain Female	brain
7	chr21:37691800-37694400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr21:37691800-37694400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:37691800-37694400	Active TSS	Fetal Kidney	kidney
10	chr21:37691800-37694600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:37691800-37694800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:37692000-37694200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:37692000-37694200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:37692000-37694200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:37692000-37694200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:37692000-37694400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:37692000-37694600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:37692000-37694600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr21:37692000-37695000	Active TSS	HSMMtube	muscle
20	chr21:37692200-37694200	Active TSS	HMEC	breast
21	chr21:37692200-37694400	Active TSS	Esophagus	oesophagus
22	chr21:37692400-37694200	Active TSS	GM12878-XiMat	blood
23	chr21:37692400-37694600	Active TSS	Fetal Muscle Trunk	muscle
24	chr21:37692600-37694600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:37692800-37694400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:37693000-37694600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr21:37693000-37695400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr21:37693200-37694200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr21:37693200-37694600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr21:37693200-37694600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:37693200-37694600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr21:37693200-37694600	Flanking Active TSS	Dnd41	blood
33	chr21:37693200-37695000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:37693200-37696000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:37693400-37694400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr21:37693400-37694400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr21:37693400-37694400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr21:37693400-37694400	Flanking Active TSS	NH-A	brain
39	chr21:37693400-37694400	Flanking Active TSS	Osteobl	bone
40	chr21:37693400-37694600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr21:37693400-37694600	Flanking Active TSS	HUVEC	blood vessel
42	chr21:37693400-37694800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:37693400-37694800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:37693400-37694800	Flanking Active TSS	Liver	Liver
45	chr21:37693400-37696000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr21:37693600-37694200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr21:37693600-37694400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:37693600-37694400	Flanking Active TSS	Fetal Lung	lung
49	chr21:37693600-37694400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr21:37693600-37694600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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