Variant report

Variant	rs73516894
Chromosome Location	chr11:68266324-68266325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68262578..68264166-chr11:68264953..68267879,2	K562	blood:
2	chr11:68257241..68259245-chr11:68265126..68267935,2	K562	blood:
3	chr11:68265358..68269310-chr11:68272346..68275043,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212093	Chromatin interaction
ENSG00000222339	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2510394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58981121	1.00[AFR][1000 genomes]
rs59010692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61387988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61598913	1.00[AMR][1000 genomes]
rs73504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506207	1.00[AMR][1000 genomes]
rs73506270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508108	1.00[AMR][1000 genomes]
rs73508114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516850	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516865	1.00[AMR][1000 genomes]
rs73516880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73516899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73521433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68240000-68269800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:68246800-68266600	Weak transcription	Fetal Thymus	thymus
4	chr11:68247000-68270800	Weak transcription	Dnd41	blood
5	chr11:68249000-68270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:68249400-68270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:68256400-68268200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:68256600-68287200	Weak transcription	NHEK	skin
9	chr11:68260000-68274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:68260200-68266600	Weak transcription	Thymus	Thymus
11	chr11:68261600-68278000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:68262200-68269200	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:68262200-68277000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:68263400-68272600	Enhancers	Psoas Muscle	Psoas
15	chr11:68263600-68266400	Weak transcription	Right Atrium	heart
16	chr11:68263600-68271600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:68263800-68271800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:68264000-68270800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:68264600-68272200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:68264600-68272400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:68264600-68273400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr11:68264600-68273600	Enhancers	Ovary	ovary
23	chr11:68264800-68266800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:68264800-68267200	Enhancers	Fetal Intestine Small	intestine
25	chr11:68264800-68267200	Enhancers	Lung	lung
26	chr11:68264800-68267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:68264800-68267400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:68264800-68268000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:68264800-68268600	Enhancers	Liver	Liver
30	chr11:68264800-68269400	Enhancers	Left Ventricle	heart
31	chr11:68265000-68266400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:68265000-68266800	Weak transcription	Pancreas	Pancrea
33	chr11:68265000-68267000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:68265000-68267200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:68265000-68267600	Enhancers	Brain Angular Gyrus	brain
36	chr11:68265000-68268400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:68265000-68268600	Enhancers	Brain Hippocampus Middle	brain
38	chr11:68265000-68270800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:68265000-68272400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:68265000-68272600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:68265000-68275200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:68265200-68266400	Enhancers	Fetal Lung	lung
43	chr11:68265200-68266600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr11:68265200-68266800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:68265200-68266800	Enhancers	HSMMtube	muscle
46	chr11:68265200-68267000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:68265200-68267000	Enhancers	Brain Substantia Nigra	brain
48	chr11:68265200-68267200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:68265200-68267600	Enhancers	Primary B cells from cord blood	blood
50	chr11:68265200-68268000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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