Variant report

Variant	rs73466031
Chromosome Location	chr11:46414247-46414248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46141600..46143492-chr11:46413694..46415670,2	K562	blood:
2	chr11:46410487..46414649-chr11:46636425..46640304,4	K562	blood:
3	chr11:46411793..46414302-chr11:46533224..46536085,2	K562	blood:
4	chr11:46390741..46391631-chr11:46413418..46414279,3	MCF-7	breast:
5	chr11:46142288..46144850-chr11:46412656..46414370,2	K562	blood:
6	chr11:46243218..46244799-chr11:46411942..46414663,2	K562	blood:
7	chr11:46382758..46384571-chr11:46413597..46415273,2	K562	blood:
8	chr11:46412693..46415235-chr11:46560575..46563535,2	K562	blood:
9	chr11:46369976..46372560-chr11:46412510..46415040,2	K562	blood:
10	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
11	chr11:46387017..46391551-chr11:46409922..46414717,7	K562	blood:
12	chr11:46412420..46414324-chr11:46511342..46513973,2	K562	blood:
13	chr11:46413148..46415878-chr11:46416015..46418632,3	MCF-7	breast:
14	chr11:46407801..46410593-chr11:46412319..46414287,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180720	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10734546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038924	0.80[AFR][1000 genomes]
rs12099188	0.80[AFR][1000 genomes]
rs1489190	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1812657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864836	0.80[AFR][1000 genomes]
rs34217002	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34444424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35935319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4433539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs57923752	0.80[AFR][1000 genomes]
rs58314136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60026983	0.80[AFR][1000 genomes]
rs60147143	0.80[AFR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61693609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449906	0.80[AFR][1000 genomes]
rs73449908	0.80[AFR][1000 genomes]
rs73449917	0.80[AFR][1000 genomes]
rs73449920	0.80[AFR][1000 genomes]
rs73449937	0.80[AFR][1000 genomes]
rs73449939	0.80[AFR][1000 genomes]
rs73449943	0.80[AFR][1000 genomes]
rs73449951	0.80[AFR][1000 genomes]
rs73449956	0.80[AFR][1000 genomes]
rs73449974	0.80[AFR][1000 genomes]
rs73449985	0.80[AFR][1000 genomes]
rs73450002	0.80[AFR][1000 genomes]
rs73451811	0.80[AFR][1000 genomes]
rs73451819	0.80[AFR][1000 genomes]
rs73451822	0.80[AFR][1000 genomes]
rs73451825	0.80[AFR][1000 genomes]
rs73451848	0.80[AFR][1000 genomes]
rs73451858	0.80[AFR][1000 genomes]
rs73451860	0.80[AFR][1000 genomes]
rs73451863	0.80[AFR][1000 genomes]
rs73451880	0.80[AFR][1000 genomes]
rs73451885	0.80[AFR][1000 genomes]
rs73464080	1.00[AMR][1000 genomes]
rs73466069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467919	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467936	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467944	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467947	0.80[AFR][1000 genomes]
rs73467950	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467963	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467964	0.80[AFR][1000 genomes]
rs73467966	0.80[AFR][1000 genomes]
rs7924437	0.91[AFR][1000 genomes]
rs7924695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46410800-46415000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:46410800-46415000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:46411000-46414800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:46411400-46414400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr11:46411400-46414800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:46411600-46414400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr11:46411600-46414400	Active TSS	HSMMtube	muscle
8	chr11:46412000-46415000	Enhancers	Lung	lung
9	chr11:46412400-46414800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:46412400-46415000	Active TSS	Brain Angular Gyrus	brain
11	chr11:46412600-46414400	Enhancers	Primary B cells from cord blood	blood
12	chr11:46412600-46414400	Active TSS	Brain Anterior Caudate	brain
13	chr11:46412600-46414400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr11:46412600-46414800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr11:46412600-46414800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:46412800-46414400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:46412800-46414800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:46412800-46414800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:46412800-46415000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:46412800-46415000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:46412800-46415000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:46413000-46414400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46413000-46414600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:46413000-46414600	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr11:46413000-46414600	Active TSS	HepG2	liver
26	chr11:46413000-46414600	Active TSS	HSMM	muscle
27	chr11:46413000-46414800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:46413000-46414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:46413000-46425000	Weak transcription	Fetal Heart	heart
30	chr11:46413200-46414400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:46413200-46414400	Active TSS	Fetal Intestine Small	intestine
32	chr11:46413200-46414400	Active TSS	A549	lung
33	chr11:46413200-46414400	Active TSS	HUVEC	blood vessel
34	chr11:46413200-46414600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:46413200-46414600	Active TSS	Aorta	Aorta
36	chr11:46413200-46414600	Flanking Active TSS	Pancreas	Pancrea
37	chr11:46413200-46414800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:46413200-46414800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:46413200-46414800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr11:46413200-46414800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:46413200-46414800	Enhancers	Small Intestine	intestine
42	chr11:46413200-46415000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:46413400-46414400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:46413400-46414400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:46413400-46414400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr11:46413400-46414600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:46413400-46414600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:46413400-46414600	Flanking Active TSS	Liver	Liver
49	chr11:46413400-46414600	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:46413400-46414800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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