Variant report

Variant	rs73482248
Chromosome Location	chr11:65096993-65096994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:65096802-65097831	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr11:65096838-65097182	K562	blood:	n/a	n/a
3	MXI1	chr11:65096885-65097933	SK-N-SH	brain:	n/a	n/a
4	CUX1	chr11:65096975-65097686	K562	blood:	n/a	n/a
5	CTCF	chr11:65096940-65097090	AG04450	lung:	n/a	n/a
6	GATA3	chr11:65096962-65097548	SH-SY5Y	brain:	n/a	n/a
7	POLR2A	chr11:65096377-65097094	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:65096768-65097816	HUVEC	blood vessel:	n/a	n/a
9	GATA3	chr11:65096829-65097737	T-47D	breast:	n/a	chr11:65096953-65096970
10	FOXA1	chr11:65096957-65097251	T-47D	breast:	n/a	n/a
11	GATA2	chr11:65096937-65097679	SH-SY5Y	brain:	n/a	chr11:65096953-65096970
12	GATA3	chr11:65096951-65097350	MCF-7	breast:	n/a	chr11:65096953-65096970
13	CTCF	chr11:65096853-65097994	SK-N-SH	brain:	n/a	n/a
14	FOXA1	chr11:65096926-65097277	T-47D	breast:	n/a	n/a
15	SPI1	chr11:65096963-65097507	HL-60	blood:	n/a	n/a
16	GATA2	chr11:65096991-65097675	HUVEC	blood vessel:	n/a	n/a
17	GATA3	chr11:65096792-65097748	T-47D	breast:	n/a	chr11:65096953-65096970
18	CTCF	chr11:65096783-65097997	A549	lung:	n/a	n/a
19	EP300	chr11:65096930-65097238	T-47D	breast:	n/a	n/a
20	POLR2A	chr11:65096885-65097233	HUVEC	blood vessel:	n/a	n/a
21	SMC3	chr11:65096804-65097973	SK-N-SH	brain:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65081514..65084226-chr11:65094872..65098067,4	MCF-7	breast:
2	chr11:65096021..65098994-chr11:65192739..65196901,5	K562	blood:
3	chr11:65084434..65087032-chr11:65095873..65098230,3	MCF-7	breast:
4	chr11:65096087..65101158-chr11:65187507..65191685,6	K562	blood:
5	chr11:65082835..65083713-chr11:65096911..65098005,7	MCF-7	breast:
6	chr11:65042188..65043155-chr11:65096938..65098152,6	MCF-7	breast:
7	chr11:65092980..65094562-chr11:65096918..65099257,2	MCF-7	breast:
8	chr11:65096087..65099214-chr11:65189318..65191685,3	K562	blood:
9	chr11:65096613..65098724-chr11:65264843..65267400,3	K562	blood:
10	chr11:65096554..65098971-chr11:65120914..65123257,2	MCF-7	breast:
11	chr11:65096021..65098876-chr11:65192739..65195995,3	K562	blood:
12	chr11:65042586..65044246-chr11:65096188..65098233,2	K562	blood:
13	chr11:65094160..65099133-chr11:65099776..65103248,6	K562	blood:
14	chr11:65040873..65044246-chr11:65095281..65099603,5	K562	blood:
15	chr11:65085057..65089903-chr11:65095302..65099017,4	MCF-7	breast:
16	chr11:65096613..65098473-chr11:65264843..65266422,2	K562	blood:
17	chr11:65096160..65099153-chr11:65099778..65102070,4	MCF-7	breast:
18	chr11:65095990..65098961-chr11:65184983..65186662,2	K562	blood:
19	chr11:65089338..65091881-chr11:65095674..65098438,2	K562	blood:

No data

Variant related genes	Relation type
DPF2	TF binding region
ENSG00000270117	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	0.90[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	0.90[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking 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 miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65085000-65100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:65085200-65097200	Weak transcription	Stomach Mucosa	stomach
3	chr11:65085200-65101000	Weak transcription	Fetal Kidney	kidney
4	chr11:65085400-65097000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:65085800-65101000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65088800-65101000	Weak transcription	Right Atrium	heart
7	chr11:65089200-65101000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:65089400-65101200	Weak transcription	Small Intestine	intestine
9	chr11:65089800-65097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:65089800-65100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:65089800-65101000	Weak transcription	Liver	Liver
12	chr11:65089800-65101000	Weak transcription	Esophagus	oesophagus
13	chr11:65090000-65097000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:65090000-65097200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:65090000-65097200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:65090000-65101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:65090000-65101000	Weak transcription	Brain Substantia Nigra	brain
18	chr11:65090000-65101000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:65090200-65097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:65090200-65097000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:65090200-65097000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:65090200-65097000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:65090200-65097200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:65090200-65097200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:65090200-65097200	Weak transcription	Fetal Brain Female	brain
26	chr11:65090200-65097400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:65090200-65100800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:65090200-65100800	Weak transcription	Colonic Mucosa	Colon
29	chr11:65090200-65101000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:65090200-65101000	Weak transcription	Fetal Lung	lung
31	chr11:65090200-65101000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:65090400-65097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:65090400-65097000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:65090400-65097000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65090400-65097000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:65090400-65097000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:65090400-65097000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:65090400-65097000	Weak transcription	A549	lung
39	chr11:65090400-65097000	Weak transcription	Hela-S3	cervix
40	chr11:65090400-65097000	Weak transcription	NH-A	brain
41	chr11:65090400-65097000	Weak transcription	NHEK	skin
42	chr11:65090400-65097200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:65090400-65097400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:65090400-65101000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:65090400-65101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:65090400-65101000	Weak transcription	Left Ventricle	heart
47	chr11:65090400-65101000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:65090400-65101000	Weak transcription	HSMM	muscle
49	chr11:65090600-65101000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:65091000-65097000	Weak transcription	Osteobl	bone

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