Variant report

Variant	rs1621654
Chromosome Location	chr11:73490444-73490445
allele	C/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73471912..73472794-chr11:73490249..73490920,4	Hela-S3	cervix:
2	chr11:73490253..73490808-chr3:49058411..49059046,2	Hela-S3	cervix:
3	chr11:73472123..73472676-chr11:73490255..73490970,2	K562	blood:
4	chr11:73475133..73477274-chr11:73489282..73491741,2	MCF-7	breast:
5	chr11:73472267..73473119-chr11:73490204..73490797,2	MCF-7	breast:
6	chr11:73490133..73490745-chr9:139702275..139702932,2	Hela-S3	cervix:
7	chr11:73490325..73490909-chr14:57735101..57736004,2	Hela-S3	cervix:
8	chr11:73490071..73490897-chr17:8076591..8077138,2	Hela-S3	cervix:
9	chr11:73472170..73472694-chr11:73490389..73490963,2	NB4	blood:
10	chr11:73470571..73474243-chr11:73488792..73493229,17	K562	blood:
11	chr11:73489641..73491887-chr11:73511276..73514152,2	K562	blood:
12	chr11:73481369..73483674-chr11:73488207..73490492,2	K562	blood:
13	chr11:73489199..73491048-chrX:12966921..12969655,2	MCF-7	breast:
14	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
15	chr11:62313227..62314068-chr11:73490147..73490757,2	Hela-S3	cervix:
16	chr11:73469555..73474700-chr11:73488749..73494585,20	MCF-7	breast:
17	chr11:73371040..73373257-chr11:73488206..73490585,3	MCF-7	breast:
18	chr11:73490028..73490728-chr15:65596881..65597464,2	Hela-S3	cervix:
19	chr11:73470195..73474536-chr11:73485650..73492680,30	MCF-7	breast:
20	chr11:73490204..73490856-chr17:41465723..41466295,2	Hela-S3	cervix:
21	chr11:73490119..73491218-chr11:73498264..73499388,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000200463	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000053770	Chromatin interaction
ENSG00000070367	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000021300	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12293194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525751	0.89[AFR][1000 genomes]
rs1618529	0.93[YRI][hapmap]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap]
rs1670561	0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1670574	1.00[AMR][1000 genomes]
rs1723834	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1723838	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1723839	0.89[AFR][1000 genomes]
rs1723842	0.89[AFR][1000 genomes]
rs1723844	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1723845	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1723846	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs1723849	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1792157	1.00[YRI][hapmap]
rs1792164	0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	0.89[AFR][1000 genomes]
rs1792196	0.89[AFR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880643	1.00[YRI][hapmap]
rs1976913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444598	0.85[AFR][1000 genomes]
rs2444600	0.92[AFR][1000 genomes]
rs2444602	1.00[AMR][1000 genomes]
rs2462617	0.82[AFR][1000 genomes]
rs2511262	0.93[YRI][hapmap]
rs2511263	0.89[AFR][1000 genomes]
rs2511265	0.89[AFR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511275	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2512627	0.81[AFR][1000 genomes]
rs2512633	0.83[AFR][1000 genomes]
rs2515091	0.82[YRI][hapmap]
rs2515095	0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.82[AFR][1000 genomes]
rs4551800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4944854	1.00[YRI][hapmap]
rs4944859	1.00[YRI][hapmap]
rs594814	1.00[AMR][1000 genomes]
rs599116	1.00[AMR][1000 genomes]
rs601335	1.00[AMR][1000 genomes]
rs610280	1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627721	1.00[AMR][1000 genomes]
rs641423	1.00[AMR][1000 genomes]
rs652229	1.00[AMR][1000 genomes]
rs6592529	1.00[YRI][hapmap]
rs7932364	1.00[YRI][hapmap]
rs7950472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935989	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs9634024	1.00[YRI][hapmap]

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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73489600-73491000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:73489600-73491400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:73489800-73490800	Active TSS	Primary hematopoietic stem cells	blood
4	chr11:73489800-73491000	Active TSS	Brain Hippocampus Middle	brain
5	chr11:73489800-73491000	Active TSS	Duodenum Mucosa	Duodenum
6	chr11:73489800-73491000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:73489800-73491000	Active TSS	GM12878-XiMat	blood
8	chr11:73489800-73491200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:73489800-73491200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:73489800-73491200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:73489800-73491200	Active TSS	Fetal Brain Female	brain
12	chr11:73489800-73491400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73490000-73490600	Active TSS	Fetal Muscle Trunk	muscle
14	chr11:73490000-73490600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:73490000-73490800	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr11:73490000-73490800	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:73490000-73491000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:73490000-73491000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:73490000-73491000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:73490000-73491000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:73490000-73491000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:73490000-73491000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:73490000-73491000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:73490000-73491000	Active TSS	Brain Germinal Matrix	brain
25	chr11:73490000-73491000	Active TSS	Colon Smooth Muscle	Colon
26	chr11:73490000-73491000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:73490000-73491000	Active TSS	Fetal Kidney	kidney
28	chr11:73490000-73491000	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:73490000-73491000	Active TSS	Stomach Smooth Muscle	stomach
30	chr11:73490000-73491000	Active TSS	A549	lung
31	chr11:73490000-73491000	Active TSS	HepG2	liver
32	chr11:73490000-73491200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:73490000-73491200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:73490000-73491200	Active TSS	Brain Angular Gyrus	brain
35	chr11:73490000-73491200	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:73490000-73491200	Active TSS	Brain Substantia Nigra	brain
37	chr11:73490000-73491200	Active TSS	Colonic Mucosa	Colon
38	chr11:73490000-73491200	Active TSS	Fetal Brain Male	brain
39	chr11:73490000-73491200	Active TSS	Fetal Heart	heart
40	chr11:73490000-73491200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:73490000-73491200	Active TSS	Fetal Thymus	thymus
42	chr11:73490000-73491200	Active TSS	NHDF-Ad	bronchial
43	chr11:73490000-73491400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:73490000-73491400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr11:73490000-73491400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:73490000-73491400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:73490000-73491400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:73490000-73491400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:73490000-73491400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:73490000-73491400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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