Variant report

Variant	rs73464080
Chromosome Location	chr11:46374945-46374946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46373841..46375841-chr11:46385568..46388560,2	MCF-7	breast:
2	chr11:46339591..46341538-chr11:46374275..46376969,2	K562	blood:
3	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
4	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
5	chr11:46313896..46315645-chr11:46373692..46376620,2	K562	blood:
6	chr11:46370537..46375565-chr11:46394528..46400368,5	MCF-7	breast:
7	chr11:46367270..46371299-chr11:46374022..46379881,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10734546	1.00[AMR][1000 genomes]
rs1489190	1.00[AMR][1000 genomes]
rs1812657	1.00[AMR][1000 genomes]
rs1873129	1.00[AMR][1000 genomes]
rs2029378	1.00[AMR][1000 genomes]
rs2046766	1.00[AMR][1000 genomes]
rs2046767	1.00[AMR][1000 genomes]
rs2087360	1.00[AMR][1000 genomes]
rs2087361	1.00[AMR][1000 genomes]
rs2864071	1.00[AMR][1000 genomes]
rs34217002	1.00[AMR][1000 genomes]
rs34444424	1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	1.00[AMR][1000 genomes]
rs35935319	1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	1.00[AMR][1000 genomes]
rs4433539	1.00[AMR][1000 genomes]
rs4508179	1.00[AMR][1000 genomes]
rs4550197	1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs58314136	1.00[AMR][1000 genomes]
rs58770070	1.00[AMR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	1.00[AMR][1000 genomes]
rs61514976	1.00[AMR][1000 genomes]
rs61693609	1.00[AMR][1000 genomes]
rs6485681	1.00[AMR][1000 genomes]
rs73466031	1.00[AMR][1000 genomes]
rs73466069	1.00[AMR][1000 genomes]
rs73466088	1.00[AMR][1000 genomes]
rs73466094	1.00[AMR][1000 genomes]
rs73466095	1.00[AMR][1000 genomes]
rs73466099	1.00[AMR][1000 genomes]
rs73467917	1.00[AMR][1000 genomes]
rs73467919	1.00[AMR][1000 genomes]
rs73467920	1.00[AMR][1000 genomes]
rs73467936	1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	1.00[AMR][1000 genomes]
rs73467944	1.00[AMR][1000 genomes]
rs73467950	1.00[AMR][1000 genomes]
rs73467963	1.00[AMR][1000 genomes]
rs7924695	1.00[AMR][1000 genomes]
rs7928869	1.00[AMR][1000 genomes]
rs967754	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370200-46375800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:46370400-46375000	Enhancers	Gastric	stomach
5	chr11:46370400-46375200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:46370400-46375200	Enhancers	Left Ventricle	heart
7	chr11:46370400-46382400	Weak transcription	Psoas Muscle	Psoas
8	chr11:46370400-46384000	Weak transcription	A549	lung
9	chr11:46370600-46382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:46370800-46375000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:46370800-46375000	Enhancers	Adipose Nuclei	Adipose
12	chr11:46370800-46375000	Enhancers	Fetal Heart	heart
13	chr11:46370800-46375200	Genic enhancers	Fetal Intestine Small	intestine
14	chr11:46370800-46375400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:46370800-46378200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:46370800-46382400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:46370800-46382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:46370800-46382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:46371000-46375800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:46371000-46376600	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:46371000-46378400	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:46371000-46382400	Weak transcription	HSMMtube	muscle
23	chr11:46371000-46382400	Weak transcription	HUVEC	blood vessel
24	chr11:46371200-46377800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:46371200-46378200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:46371400-46376200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:46371400-46380200	Genic enhancers	Fetal Thymus	thymus
28	chr11:46371400-46382400	Weak transcription	NH-A	brain
29	chr11:46371600-46375000	Weak transcription	NHLF	lung
30	chr11:46371600-46375600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:46371600-46376800	Genic enhancers	Dnd41	blood
32	chr11:46372200-46375800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:46372600-46375400	Enhancers	Esophagus	oesophagus
34	chr11:46372600-46375800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:46372600-46375800	Genic enhancers	Spleen	Spleen
36	chr11:46372600-46376000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:46372600-46378400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:46372600-46381600	Weak transcription	Hela-S3	cervix
39	chr11:46372800-46375000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr11:46372800-46375200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:46372800-46375200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:46372800-46375400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46372800-46375400	Genic enhancers	Lung	lung
44	chr11:46372800-46375800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:46372800-46377200	Genic enhancers	Fetal Stomach	stomach
46	chr11:46373000-46375800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:46373200-46376000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:46373400-46375200	Enhancers	Ovary	ovary
49	chr11:46373400-46375400	Enhancers	HSMM	muscle
50	chr11:46373400-46375800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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