Variant report

Variant	rs73430467
Chromosome Location	chr11:3821034-3821035
allele	A/G
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	POLR2A	chr11:3820854-3821098	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3816139..3821205-chr11:3826361..3831544,11	MCF-7	breast:
2	chr11:3816760..3821195-chr11:3827310..3829330,5	K562	blood:
3	chr11:3820748..3823503-chr11:3874625..3876913,2	K562	blood:

Variant related genes	Relation type
NUP98	TF binding region
ENSG00000167323	Chromatin interaction
ENSG00000229368	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1049388	1.00[ASN][1000 genomes]
rs11029983	1.00[ASN][1000 genomes]
rs11030043	1.00[ASN][1000 genomes]
rs11030044	1.00[ASN][1000 genomes]
rs11030055	1.00[ASN][1000 genomes]
rs11030173	1.00[ASN][1000 genomes]
rs11600857	1.00[ASN][1000 genomes]
rs11606318	1.00[ASN][1000 genomes]
rs11606483	1.00[ASN][1000 genomes]
rs17173882	1.00[ASN][1000 genomes]
rs17191448	1.00[ASN][1000 genomes]
rs17276405	1.00[ASN][1000 genomes]
rs17276453	1.00[ASN][1000 genomes]
rs4910577	1.00[ASN][1000 genomes]
rs4910846	1.00[ASN][1000 genomes]
rs4910852	1.00[ASN][1000 genomes]
rs4910856	1.00[ASN][1000 genomes]
rs4910857	1.00[ASN][1000 genomes]
rs61896927	0.83[EUR][1000 genomes]
rs61896928	0.85[EUR][1000 genomes]
rs61896929	1.00[ASN][1000 genomes]
rs61896930	1.00[ASN][1000 genomes]
rs61896931	1.00[ASN][1000 genomes]
rs61896953	1.00[ASN][1000 genomes]
rs61896954	1.00[ASN][1000 genomes]
rs61896956	1.00[ASN][1000 genomes]
rs61896957	1.00[ASN][1000 genomes]
rs61896958	1.00[ASN][1000 genomes]
rs61896959	1.00[ASN][1000 genomes]
rs61899361	1.00[ASN][1000 genomes]
rs61899362	1.00[ASN][1000 genomes]
rs61899363	1.00[ASN][1000 genomes]
rs61899392	1.00[ASN][1000 genomes]
rs61899393	1.00[ASN][1000 genomes]
rs6578414	1.00[ASN][1000 genomes]
rs7101788	1.00[ASN][1000 genomes]
rs72844340	1.00[ASN][1000 genomes]
rs72844341	1.00[ASN][1000 genomes]
rs74050940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr11:3818800-3829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:3819600-3823400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:3819600-3823400	Weak transcription	NH-A	brain
4	chr11:3819600-3823600	Weak transcription	NHDF-Ad	bronchial
5	chr11:3819600-3825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:3819600-3828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:3819600-3828800	Weak transcription	Fetal Kidney	kidney
8	chr11:3819600-3829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:3819600-3829000	Weak transcription	Primary T cells from cord blood	blood
10	chr11:3819600-3829000	Weak transcription	Stomach Mucosa	stomach
11	chr11:3819800-3823000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:3819800-3823000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:3819800-3823200	Weak transcription	A549	lung
14	chr11:3819800-3823200	Weak transcription	K562	blood
15	chr11:3819800-3823400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:3819800-3823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:3819800-3823400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:3819800-3823400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:3819800-3823400	Weak transcription	HSMM	muscle
20	chr11:3819800-3823400	Weak transcription	HSMMtube	muscle
21	chr11:3819800-3823400	Weak transcription	Osteobl	bone
22	chr11:3819800-3823600	Weak transcription	Fetal Stomach	stomach
23	chr11:3819800-3825200	Weak transcription	HMEC	breast
24	chr11:3819800-3825200	Weak transcription	NHEK	skin
25	chr11:3819800-3828800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:3819800-3828800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:3819800-3828800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:3819800-3829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:3819800-3829000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:3819800-3829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:3819800-3829000	Weak transcription	Thymus	Thymus
32	chr11:3820000-3823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:3820000-3823200	Weak transcription	HepG2	liver
34	chr11:3820000-3825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:3820200-3823000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:3820200-3829000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:3820200-3829000	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:3820400-3821200	Enhancers	Dnd41	blood
39	chr11:3820400-3821600	Enhancers	Fetal Intestine Large	intestine
40	chr11:3820400-3821800	Enhancers	Fetal Intestine Small	intestine
41	chr11:3820400-3828800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:3820400-3828800	Weak transcription	Hela-S3	cervix
43	chr11:3820600-3828800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:3820800-3821400	Enhancers	Lung	lung
45	chr11:3820800-3823400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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