Variant report

Variant	rs1648123
Chromosome Location	chr11:35033491-35033492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1011518	0.89[ASN][1000 genomes]
rs1011519	0.89[ASN][1000 genomes]
rs10742331	0.84[ASN][1000 genomes]
rs10742332	0.89[ASN][1000 genomes]
rs10768106	0.85[ASN][1000 genomes]
rs10768108	0.89[ASN][1000 genomes]
rs10768110	0.89[ASN][1000 genomes]
rs10836322	0.82[ASN][1000 genomes]
rs10836323	0.82[ASN][1000 genomes]
rs10836324	0.86[ASN][1000 genomes]
rs10836326	0.89[ASN][1000 genomes]
rs1326948	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1544079	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1748073	0.89[ASN][1000 genomes]
rs1998912	0.82[ASN][1000 genomes]
rs2025778	0.86[ASN][1000 genomes]
rs2025779	0.89[ASN][1000 genomes]
rs2025780	0.89[ASN][1000 genomes]
rs2031687	0.82[ASN][1000 genomes]
rs2243929	0.89[ASN][1000 genomes]
rs2243948	0.89[ASN][1000 genomes]
rs2253128	0.89[ASN][1000 genomes]
rs2281809	0.82[ASN][1000 genomes]
rs2469911	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2732531	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732532	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732551	0.89[ASN][1000 genomes]
rs2732555	0.89[ASN][1000 genomes]
rs2732557	0.82[ASN][1000 genomes]
rs2732558	0.82[ASN][1000 genomes]
rs2732559	0.89[ASN][1000 genomes]
rs2732560	0.83[ASN][1000 genomes]
rs2732562	0.89[ASN][1000 genomes]
rs2732563	0.89[ASN][1000 genomes]
rs2732564	0.89[ASN][1000 genomes]
rs2732565	0.89[ASN][1000 genomes]
rs2761819	0.82[ASN][1000 genomes]
rs2761820	0.89[ASN][1000 genomes]
rs2761821	0.82[ASN][1000 genomes]
rs2761822	0.82[ASN][1000 genomes]
rs2762951	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2762953	0.89[ASN][1000 genomes]
rs2762954	0.89[ASN][1000 genomes]
rs2762956	0.89[ASN][1000 genomes]
rs2762957	0.89[ASN][1000 genomes]
rs2762958	0.82[ASN][1000 genomes]
rs2762959	0.89[ASN][1000 genomes]
rs2762960	0.82[ASN][1000 genomes]
rs2762963	0.89[ASN][1000 genomes]
rs2762968	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2762969	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2767033	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2767034	0.89[ASN][1000 genomes]
rs2767036	0.89[ASN][1000 genomes]
rs2767038	0.89[ASN][1000 genomes]
rs2767039	0.89[ASN][1000 genomes]
rs2767040	0.89[ASN][1000 genomes]
rs2767042	0.89[ASN][1000 genomes]
rs2767043	0.89[ASN][1000 genomes]
rs2767044	0.89[ASN][1000 genomes]
rs2767046	0.89[ASN][1000 genomes]
rs2767047	0.89[ASN][1000 genomes]
rs2915181	0.82[ASN][1000 genomes]
rs2915183	0.89[ASN][1000 genomes]
rs2915190	0.83[ASN][1000 genomes]
rs2915193	0.83[ASN][1000 genomes]
rs2915200	0.80[ASN][1000 genomes]
rs2915227	0.82[ASN][1000 genomes]
rs2956081	0.82[ASN][1000 genomes]
rs2956087	0.83[ASN][1000 genomes]
rs2956099	0.89[ASN][1000 genomes]
rs2956123	0.82[ASN][1000 genomes]
rs2985149	0.89[ASN][1000 genomes]
rs2985151	0.89[ASN][1000 genomes]
rs2985401	0.82[ASN][1000 genomes]
rs2985403	0.82[ASN][1000 genomes]
rs2985404	0.82[ASN][1000 genomes]
rs2985405	0.82[ASN][1000 genomes]
rs2986404	0.83[ASN][1000 genomes]
rs2986409	0.82[ASN][1000 genomes]
rs2986410	0.82[ASN][1000 genomes]
rs3932539	0.85[ASN][1000 genomes]
rs497109	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497582	0.89[ASN][1000 genomes]
rs504034	0.89[ASN][1000 genomes]
rs514182	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs523472	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs589626	0.82[ASN][1000 genomes]
rs614668	0.82[ASN][1000 genomes]
rs746124	0.82[ASN][1000 genomes]
rs9326	0.89[ASN][1000 genomes]
rs952489	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9667348	0.81[ASN][1000 genomes]
rs967505	0.82[ASN][1000 genomes]
rs967506	0.81[ASN][1000 genomes]
rs997664	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][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:71 , 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	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
3	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:35028400-35033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:35028600-35033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:35029200-35033600	Weak transcription	Primary B cells from cord blood	blood
10	chr11:35029200-35033800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:35029200-35033800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:35029600-35036200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:35029800-35033600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:35029800-35034200	Enhancers	NHDF-Ad	bronchial
15	chr11:35030000-35035000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:35030000-35035000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:35030000-35037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:35030400-35033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:35030400-35036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:35030800-35034400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:35031200-35033800	Weak transcription	Thymus	Thymus
22	chr11:35031200-35034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:35031400-35035400	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:35031600-35033800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:35031600-35033800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:35031600-35035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:35031600-35035400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:35031800-35033800	Weak transcription	Colonic Mucosa	Colon
29	chr11:35031800-35035000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:35031800-35035000	Weak transcription	NH-A	brain
31	chr11:35032000-35035000	Weak transcription	Stomach Mucosa	stomach
32	chr11:35032200-35033800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:35032200-35035000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:35032200-35035600	Weak transcription	HSMM	muscle
35	chr11:35032200-35035800	Weak transcription	HSMMtube	muscle
36	chr11:35032200-35036000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:35032200-35037600	Weak transcription	Fetal Intestine Large	intestine
38	chr11:35032400-35034600	Weak transcription	Small Intestine	intestine
39	chr11:35032400-35035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:35032600-35033800	Weak transcription	HMEC	breast
41	chr11:35032600-35034600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:35032600-35035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:35032600-35035000	Weak transcription	NHEK	skin
44	chr11:35032600-35035800	Enhancers	Hela-S3	cervix
45	chr11:35032800-35034000	Enhancers	NHLF	lung
46	chr11:35032800-35035000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:35032800-35037800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:35033000-35033800	Enhancers	GM12878-XiMat	blood
49	chr11:35033000-35039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:35033000-35039200	Weak transcription	HepG2	liver

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