Variant report

Variant	rs7944713
Chromosome Location	chr11:9285476-9285477
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9283945..9285657-chr11:9332278..9334746,2	K562	blood:
2	chr11:9283842..9285699-chr11:9308207..9310804,2	K562	blood:
3	chr11:9283842..9286911-chr11:9307794..9310804,4	K562	blood:
4	chr11:9284942..9289829-chr11:9481407..9484206,5	MCF-7	breast:
5	chr11:9285385..9287169-chr11:9480610..9482898,2	K562	blood:
6	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
7	chr11:9285208..9288330-chr11:9480610..9483327,3	K562	blood:
8	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
9	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:
10	chr11:9285399..9287969-chr11:9480073..9484247,5	MCF-7	breast:
11	chr11:9284656..9288251-chr11:9406150..9408599,6	K562	blood:
12	chr11:9260075..9262921-chr11:9283995..9286236,2	K562	blood:
13	chr11:9276956..9280134-chr11:9283960..9286247,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10743100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs11601229	1.00[YRI][hapmap]
rs12225143	1.00[EUR][1000 genomes]
rs12275492	1.00[TSI][hapmap]
rs1809855	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	0.89[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	0.84[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4331093	0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4372456	1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	0.84[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	0.92[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56306422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60602151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130037	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73412059	1.00[AMR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948651	1.00[AMR][1000 genomes];1.00[EUR][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	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
6	chr11:9281400-9285600	Weak transcription	Pancreas	Pancrea
7	chr11:9282000-9285600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:9282200-9285600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:9282800-9285800	Weak transcription	Spleen	Spleen
10	chr11:9283000-9285600	Enhancers	Fetal Brain Male	brain
11	chr11:9283600-9285600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:9283600-9287000	Active TSS	GM12878-XiMat	blood
13	chr11:9284200-9285600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:9284400-9287600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:9284600-9287600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:9284800-9285600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:9284800-9285600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:9284800-9285600	Active TSS	Fetal Brain Female	brain
19	chr11:9284800-9287000	Active TSS	Hela-S3	cervix
20	chr11:9284800-9287000	Active TSS	HSMM	muscle
21	chr11:9284800-9287200	Active TSS	Osteobl	bone
22	chr11:9284800-9287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:9284800-9287600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:9284800-9287600	Active TSS	NHDF-Ad	bronchial
25	chr11:9284800-9287800	Active TSS	Brain Anterior Caudate	brain
26	chr11:9285000-9285600	Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:9285000-9285600	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr11:9285000-9285600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:9285000-9285600	Active TSS	Adipose Nuclei	Adipose
30	chr11:9285000-9285600	Weak transcription	Lung	lung
31	chr11:9285000-9287000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:9285000-9287000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:9285000-9287000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:9285000-9287000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:9285000-9287200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:9285000-9287200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:9285000-9287200	Active TSS	Brain Hippocampus Middle	brain
38	chr11:9285000-9287200	Active TSS	Placenta	Placenta
39	chr11:9285000-9287200	Active TSS	Psoas Muscle	Psoas
40	chr11:9285000-9287200	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:9285000-9287400	Active TSS	Left Ventricle	heart
42	chr11:9285000-9287400	Active TSS	Right Atrium	heart
43	chr11:9285000-9287400	Active TSS	Right Ventricle	heart
44	chr11:9285200-9285600	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr11:9285200-9285800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:9285400-9285600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:9285400-9285600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:9285400-9285600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr11:9285400-9285600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:9285400-9285600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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