Variant report

Variant	rs56140159
Chromosome Location	chr11:73077427-73077428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73077155..73079964-chr11:73102615..73104681,2	K562	blood:
2	chr11:73076599..73078971-chr11:73085777..73089781,4	K562	blood:
3	chr11:73076489..73078676-chr11:73084006..73085731,2	K562	blood:
4	chr11:73071618..73073385-chr11:73077416..73079992,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1107037	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290082	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293779	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59127043	1.00[ASN][1000 genomes]
rs61749197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
2	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
4	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
7	chr11:73062600-73087400	Weak transcription	Liver	Liver
8	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
10	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
13	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:73065800-73077600	Strong transcription	Rectal Smooth Muscle	rectum
17	chr11:73066400-73077600	Strong transcription	Gastric	stomach
18	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:73066600-73078000	Strong transcription	Lung	lung
20	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
22	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
23	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
24	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
25	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:73070600-73077600	Strong transcription	Brain Cingulate Gyrus	brain
27	chr11:73070600-73079400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:73070800-73077600	Strong transcription	NH-A	brain
29	chr11:73070800-73080400	Strong transcription	Aorta	Aorta
30	chr11:73070800-73081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:73070800-73081600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:73071200-73077800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:73071200-73079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:73071400-73077600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:73071400-73080000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:73071400-73080800	Strong transcription	Osteobl	bone
37	chr11:73071400-73081200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:73071600-73081000	Strong transcription	NHLF	lung
39	chr11:73071800-73077800	Strong transcription	Brain Anterior Caudate	brain
40	chr11:73071800-73077800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:73071800-73081000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:73072600-73077800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:73073200-73087000	Weak transcription	HMEC	breast
45	chr11:73073800-73077600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:73073800-73080400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:73074000-73077600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell

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