Variant report

Variant	rs7116711
Chromosome Location	chr11:71350768-71350769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10751132	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10792818	0.80[EUR][1000 genomes]
rs10898405	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10898408	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10898423	0.80[ASN][1000 genomes]
rs11234367	0.91[EUR][1000 genomes]
rs11234372	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11234373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12361821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12576748	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1940183	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28455706	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34322519	0.89[EUR][1000 genomes]
rs4245450	0.81[ASN][1000 genomes]
rs4503573	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944112	0.94[EUR][1000 genomes]
rs4944127	0.83[EUR][1000 genomes]
rs4945103	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945109	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945113	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945114	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945121	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61890105	0.85[EUR][1000 genomes]
rs7105749	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116448	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121709	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9326446	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9326447	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9666810	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9734251	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9794951	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1043207	chr11:71293875-71442666	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1036258	chr11:71299175-71523551	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv555403	chr11:71301189-71430470	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv897901	chr11:71316093-71441301	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv897902	chr11:71316093-71468856	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv897903	chr11:71316093-71523766	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1035306	chr11:71326941-71523551	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	esv1808002	chr11:71330564-71522967	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv832205	chr11:71336700-71523817	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71350000-71350800	Enhancers	Primary B cells from cord blood	blood
2	chr11:71350000-71351400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:71350200-71350800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:71350200-71350800	Active TSS	Fetal Brain Female	brain
5	chr11:71350200-71350800	Enhancers	Spleen	Spleen
6	chr11:71350200-71351200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:71350400-71350800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:71350400-71350800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:71350400-71350800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:71350400-71350800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:71350400-71350800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:71350400-71350800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:71350400-71350800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr11:71350400-71350800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:71350400-71350800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:71350400-71350800	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:71350400-71350800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr11:71350400-71350800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:71350400-71350800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:71350400-71350800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:71350400-71350800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:71350400-71350800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:71350400-71350800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:71350400-71350800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:71350400-71350800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:71350400-71350800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:71350400-71350800	Active TSS	Aorta	Aorta
28	chr11:71350400-71350800	Active TSS	Brain Anterior Caudate	brain
29	chr11:71350400-71350800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr11:71350400-71350800	Active TSS	Psoas Muscle	Psoas
31	chr11:71350400-71350800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:71350400-71350800	Flanking Active TSS	Right Ventricle	heart
33	chr11:71350400-71350800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr11:71350400-71350800	Bivalent/Poised TSS	A549	lung
35	chr11:71350400-71350800	Active TSS	HepG2	liver
36	chr11:71350400-71350800	Active TSS	HSMM	muscle
37	chr11:71350400-71350800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
38	chr11:71350400-71351000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:71350400-71351000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:71350400-71351000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr11:71350400-71351000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:71350400-71351000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:71350400-71351000	Active TSS	Ovary	ovary
44	chr11:71350400-71351000	Active TSS	Right Atrium	heart
45	chr11:71350400-71351000	Bivalent/Poised TSS	Thymus	Thymus
46	chr11:71350400-71351200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:71350400-71351200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:71350400-71351200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:71350400-71351200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:71350400-71351400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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