Variant report

Variant	rs2469911
Chromosome Location	chr11:35030493-35030494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:
2	chr11:35027303..35029685-chr11:35029694..35032602,2	MCF-7	breast:
3	chr11:35026581..35028709-chr11:35030070..35032050,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1011518	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1011519	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10742331	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10742332	0.90[EUR][1000 genomes]
rs10768106	0.88[EUR][1000 genomes]
rs10768110	0.90[EUR][1000 genomes]
rs10836324	0.88[EUR][1000 genomes]
rs10836326	0.91[EUR][1000 genomes]
rs12799433	0.82[EUR][1000 genomes]
rs1326948	0.92[EUR][1000 genomes]
rs1544079	0.93[EUR][1000 genomes]
rs1648123	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1748073	0.88[EUR][1000 genomes]
rs2025778	0.87[EUR][1000 genomes]
rs2025779	0.91[EUR][1000 genomes]
rs2025780	0.91[EUR][1000 genomes]
rs2243929	0.89[EUR][1000 genomes]
rs2243948	0.89[EUR][1000 genomes]
rs2253128	0.91[EUR][1000 genomes]
rs2477157	0.84[EUR][1000 genomes]
rs2732531	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2732532	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2732551	0.89[EUR][1000 genomes]
rs2732555	0.89[EUR][1000 genomes]
rs2732559	0.89[EUR][1000 genomes]
rs2732560	0.85[EUR][1000 genomes]
rs2732562	0.91[EUR][1000 genomes]
rs2732563	0.92[EUR][1000 genomes]
rs2732564	0.92[EUR][1000 genomes]
rs2732565	0.92[EUR][1000 genomes]
rs2761820	0.89[EUR][1000 genomes]
rs2762951	0.92[EUR][1000 genomes]
rs2762953	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2762954	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2762956	0.89[EUR][1000 genomes]
rs2762957	0.89[EUR][1000 genomes]
rs2762959	0.89[EUR][1000 genomes]
rs2762963	0.89[EUR][1000 genomes]
rs2762968	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2762969	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2767033	0.92[EUR][1000 genomes]
rs2767034	0.89[EUR][1000 genomes]
rs2767036	0.89[EUR][1000 genomes]
rs2767038	0.91[EUR][1000 genomes]
rs2767039	0.91[EUR][1000 genomes]
rs2767040	0.91[EUR][1000 genomes]
rs2767042	0.91[EUR][1000 genomes]
rs2767043	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2767044	0.90[EUR][1000 genomes]
rs2767046	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2767047	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2915183	0.88[EUR][1000 genomes]
rs2956099	0.89[EUR][1000 genomes]
rs2985149	0.87[EUR][1000 genomes]
rs2985151	0.89[EUR][1000 genomes]
rs3932539	0.81[EUR][1000 genomes]
rs497109	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs497582	0.89[EUR][1000 genomes]
rs504034	0.89[EUR][1000 genomes]
rs523472	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9326	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs952489	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9667348	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs997664	0.84[AMR][1000 genomes];0.98[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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:35000800-35031000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
4	chr11:35008600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:35017200-35030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:35025400-35030800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:35025600-35030600	Weak transcription	Osteobl	bone
10	chr11:35025600-35030800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:35025600-35030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:35026600-35032000	Enhancers	Stomach Mucosa	stomach
13	chr11:35027000-35030800	Weak transcription	Fetal Intestine Large	intestine
14	chr11:35027000-35032200	Enhancers	Duodenum Mucosa	Duodenum
15	chr11:35027200-35030800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:35027800-35031600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:35028000-35030600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:35028000-35031000	Enhancers	Small Intestine	intestine
19	chr11:35028200-35033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:35028400-35032800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:35028400-35033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:35028600-35030600	Weak transcription	NH-A	brain
24	chr11:35028600-35032000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:35028600-35033200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:35028600-35033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:35028800-35030600	Weak transcription	HSMM	muscle
29	chr11:35029000-35030800	Weak transcription	HSMMtube	muscle
30	chr11:35029200-35033200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:35029200-35033200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:35029200-35033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:35029200-35033400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:35029200-35033600	Weak transcription	Primary B cells from cord blood	blood
35	chr11:35029200-35033800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:35029200-35033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:35029600-35032600	Enhancers	Pancreas	Pancrea
38	chr11:35029600-35033200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:35029600-35036200	Enhancers	Fetal Muscle Leg	muscle
40	chr11:35029800-35030800	Enhancers	HMEC	breast
41	chr11:35029800-35031200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr11:35029800-35032200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:35029800-35032400	Enhancers	Psoas Muscle	Psoas
44	chr11:35029800-35033600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:35029800-35034200	Enhancers	NHDF-Ad	bronchial
46	chr11:35030000-35030600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr11:35030000-35030800	Enhancers	NHEK	skin
48	chr11:35030000-35031000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:35030000-35031000	Enhancers	GM12878-XiMat	blood
50	chr11:35030000-35031200	Weak transcription	Colonic Mucosa	Colon

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