Variant report

Variant	rs60687321
Chromosome Location	chr11:73077141-73077142
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	chr11:73076599..73078971-chr11:73085777..73089781,4	K562	blood:
2	chr11:73076489..73078676-chr11:73084006..73085731,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1540107	1.00[AMR][1000 genomes]
rs28719552	1.00[AMR][1000 genomes]
rs56912720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57717477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57808420	1.00[AMR][1000 genomes]
rs58151541	1.00[AMR][1000 genomes]
rs59534715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60950530	1.00[AMR][1000 genomes]
rs73536833	1.00[AMR][1000 genomes]
rs7935288	1.00[AMR][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	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
3	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
5	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
8	chr11:73062600-73087400	Weak transcription	Liver	Liver
9	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
11	chr11:73063600-73077200	Strong transcription	Ovary	ovary
12	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
15	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:73065800-73077600	Strong transcription	Rectal Smooth Muscle	rectum
19	chr11:73066400-73077200	Strong transcription	Right Ventricle	heart
20	chr11:73066400-73077600	Strong transcription	Gastric	stomach
21	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:73066600-73078000	Strong transcription	Lung	lung
23	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr11:73066800-73077200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
26	chr11:73067600-73077400	Weak transcription	Thymus	Thymus
27	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
28	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
29	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
30	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:73070600-73077600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr11:73070600-73079400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:73070800-73077600	Strong transcription	NH-A	brain
34	chr11:73070800-73080400	Strong transcription	Aorta	Aorta
35	chr11:73070800-73081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:73070800-73081600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:73071200-73077200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:73071200-73077200	Strong transcription	HSMM	muscle
39	chr11:73071200-73077800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73071200-73079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:73071400-73077600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73071400-73080000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:73071400-73080800	Strong transcription	Osteobl	bone
44	chr11:73071400-73081200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73071600-73077200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr11:73071600-73077400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:73071600-73077400	Strong transcription	HSMMtube	muscle
48	chr11:73071600-73081000	Strong transcription	NHLF	lung
49	chr11:73071800-73077400	Strong transcription	Brain Hippocampus Middle	brain
50	chr11:73071800-73077800	Strong transcription	Brain Anterior Caudate	brain

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