Variant report

Variant	rs2233354
Chromosome Location	chr11:47601977-47601978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:47598483-47602649	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47601764-47602108	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47601534-47602550	PFSK-1	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
2	chr11:47597275..47600063-chr11:47600255..47602444,2	MCF-7	breast:
3	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
4	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
5	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
6	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:

No data

Variant related genes	Relation type
RNU5E-10P	TF binding region
KBTBD4	TF binding region
NDUFS3	TF binding region
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10769293	1.00[MEX][hapmap]
rs10838735	1.00[ASW][hapmap];0.85[LWK][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039261	1.00[TSI][hapmap]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12286241	1.00[MKK][hapmap];1.00[TSI][hapmap]
rs12289442	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4256934	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331047	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418760	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4486587	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4498952	0.82[AFR][1000 genomes]
rs4623856	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs4752863	1.00[MEX][hapmap]
rs6416137	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103351	0.88[AFR][1000 genomes]
rs7105845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106293	0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119578	0.91[AFR][1000 genomes]
rs7123107	1.00[EUR][1000 genomes]
rs7129821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941173	0.96[AFR][1000 genomes]
rs7949024	1.00[AFR][1000 genomes]
rs963331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47599800-47602000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:47599800-47602000	Active TSS	Psoas Muscle	Psoas
3	chr11:47600000-47602000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:47600600-47602200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr11:47600800-47602000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr11:47600800-47602000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:47600800-47602000	Transcr. at gene 5' and 3'	Fetal Lung	lung
8	chr11:47600800-47602600	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr11:47601000-47602000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:47601000-47602000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:47601000-47602000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:47601000-47602000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:47601000-47602000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:47601000-47602000	Flanking Active TSS	HUVEC	blood vessel
15	chr11:47601000-47602000	Flanking Active TSS	Osteobl	bone
16	chr11:47601000-47602400	Transcr. at gene 5' and 3'	NHLF	lung
17	chr11:47601200-47602000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:47601200-47602000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr11:47601200-47602000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr11:47601200-47602000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:47601200-47602000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr11:47601200-47602000	Enhancers	Spleen	Spleen
23	chr11:47601200-47602000	Flanking Active TSS	NHEK	skin
24	chr11:47601400-47602000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47601400-47602000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:47601400-47602000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:47601400-47602000	Transcr. at gene 5' and 3'	Fetal Brain Male	brain
28	chr11:47601400-47602000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:47601400-47602000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:47601400-47602000	Flanking Active TSS	A549	lung
31	chr11:47601400-47602000	Flanking Active TSS	HepG2	liver
32	chr11:47601400-47602000	Flanking Active TSS	HMEC	breast
33	chr11:47601400-47602000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr11:47601400-47602200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr11:47601400-47602200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:47601400-47602200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:47601400-47602200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:47601400-47602200	Enhancers	Aorta	Aorta
39	chr11:47601400-47602200	Genic enhancers	Brain Substantia Nigra	brain
40	chr11:47601400-47602200	Weak transcription	Lung	lung
41	chr11:47601400-47602200	Enhancers	Pancreas	Pancrea
42	chr11:47601400-47602200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:47601400-47602200	Weak transcription	Small Intestine	intestine
44	chr11:47601400-47602400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:47601400-47611800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:47601600-47602000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:47601600-47602000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:47601600-47602000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:47601600-47602000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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