Variant report

Variant	rs73494273
Chromosome Location	chr11:64603576-64603577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64603515-64603675	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64601267..64604477-chr11:64610068..64613369,3	K562	blood:
2	chr11:64603535..64606034-chr11:64644190..64645808,2	K562	blood:
3	chr11:64598413..64600216-chr11:64602258..64604443,2	K562	blood:
4	chr11:64600964..64604497-chr11:65264505..65267531,3	MCF-7	breast:
5	chr11:64602876..64605121-chr11:64884556..64886331,2	MCF-7	breast:
6	chr11:64592278..64595927-chr11:64601852..64604772,3	K562	blood:
7	chr11:64574624..64577319-chr11:64601791..64604479,3	MCF-7	breast:
8	chr11:64601909..64604282-chr11:64644756..64647745,2	MCF-7	breast:
9	chr11:64570822..64573255-chr11:64603149..64605696,2	K562	blood:
10	chr11:64598716..64601448-chr11:64602943..64606477,3	K562	blood:
11	chr11:64554870..64556800-chr11:64601823..64604473,2	MCF-7	breast:
12	chr11:64575694..64578634-chr11:64603046..64604669,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC42BPG	TF binding region
ENSG00000255173	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10897531	1.00[EUR][1000 genomes]
rs11231888	1.00[EUR][1000 genomes]
rs11231892	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs35197993	1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73494264	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494296	1.00[AFR][1000 genomes]
rs73496391	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	1071 gene(s)	inside rSNPs	diseases
6	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
11	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
12	nsv555207	chr11:64600002-64620518	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active 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	36 gene(s)	inside rSNPs	diseases
13	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
14	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64582600-64609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:64582600-64611000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:64590600-64609400	Weak transcription	Fetal Lung	lung
4	chr11:64590800-64604600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:64591000-64610600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:64591200-64605400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64591200-64609600	Strong transcription	Fetal Intestine Small	intestine
8	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:64591400-64604400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:64591600-64611200	Weak transcription	Small Intestine	intestine
11	chr11:64592000-64604200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:64592600-64604200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:64592800-64608200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:64593000-64608400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:64593400-64607400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:64593400-64608200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:64593400-64611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:64593600-64603600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:64593800-64611400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:64594400-64609600	Strong transcription	Colonic Mucosa	Colon
21	chr11:64595200-64604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:64595400-64608600	Strong transcription	Fetal Stomach	stomach
23	chr11:64596000-64611600	Weak transcription	Right Atrium	heart
24	chr11:64596200-64609400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:64596600-64609600	Weak transcription	K562	blood
26	chr11:64596800-64603800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr11:64597400-64611400	Weak transcription	Liver	Liver
28	chr11:64597600-64608400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:64597600-64611200	Weak transcription	Fetal Thymus	thymus
30	chr11:64597800-64611400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:64597800-64611400	Weak transcription	Fetal Kidney	kidney
32	chr11:64598000-64606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:64598000-64610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:64598800-64603800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:64598800-64604000	Strong transcription	Lung	lung
36	chr11:64600000-64606200	Weak transcription	Ovary	ovary
37	chr11:64600600-64608000	Strong transcription	Fetal Intestine Large	intestine
38	chr11:64600800-64603600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:64601000-64604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:64601200-64603800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:64601200-64609800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:64601400-64603600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:64601800-64603600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:64601800-64604600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:64601800-64605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:64602000-64604800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:64602000-64605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:64602000-64608400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:64602200-64603800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:64602200-64604000	Enhancers	A549	lung

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