Variant report

Variant	rs73506750
Chromosome Location	chr11:77394577-77394578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77393190..77396139-chr11:77472455..77474265,2	K562	blood:
2	chr11:77394060..77396749-chr11:77727760..77729718,2	K562	blood:
3	chr11:77388095..77392294-chr11:77393769..77397595,5	K562	blood:
4	chr11:77387590..77389949-chr11:77392923..77394764,2	K562	blood:

Variant related genes	Relation type
ENSG00000048649	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17135805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77360400-77419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77370000-77410400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:77373800-77413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:77374000-77416200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:77374200-77417400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:77374800-77414000	Strong transcription	Fetal Thymus	thymus
7	chr11:77375000-77411200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:77375000-77411200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:77375000-77413000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:77375200-77411000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:77375200-77411000	Strong transcription	Liver	Liver
12	chr11:77375200-77413600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:77375400-77394600	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:77375400-77395400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:77375400-77396400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr11:77375400-77404800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:77375400-77411000	Strong transcription	Dnd41	blood
18	chr11:77375600-77395200	Strong transcription	Primary T cells from cord blood	blood
19	chr11:77375600-77395800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:77375600-77405000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:77375600-77411200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:77375600-77413200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:77375600-77413400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:77375800-77404800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:77376200-77394800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:77376800-77415600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:77377600-77410400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:77377800-77395200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:77377800-77395200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:77378000-77395600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:77378000-77397800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:77381400-77403000	Weak transcription	Aorta	Aorta
33	chr11:77381800-77396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:77381800-77411000	Weak transcription	Stomach Mucosa	stomach
35	chr11:77382000-77409000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:77384200-77400200	Weak transcription	Right Ventricle	heart
37	chr11:77384200-77411200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:77385400-77404800	Strong transcription	Osteobl	bone
39	chr11:77385600-77394800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:77386400-77414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:77387200-77416600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:77387400-77405800	Weak transcription	K562	blood
43	chr11:77388000-77408000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:77388000-77408000	Weak transcription	Colonic Mucosa	Colon
45	chr11:77388000-77413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:77388000-77413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:77388600-77394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:77388600-77415800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:77388800-77409800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:77389000-77395800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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