Variant report

Variant	rs73516880
Chromosome Location	chr11:68259236-68259237
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68256624..68259557-chr11:68268136..68270312,2	K562	blood:
2	chr11:68255648..68257988-chr11:68258714..68260620,2	MCF-7	breast:
3	chr11:68259181..68262502-chr11:68267020..68269940,3	MCF-7	breast:
4	chr11:68258078..68260242-chr11:68261138..68263198,2	MCF-7	breast:
5	chr11:68258324..68260734-chr11:68281376..68283618,2	K562	blood:
6	chr11:68257241..68259245-chr11:68265126..68267935,2	K562	blood:

Variant related genes	Relation type
ENSG00000254856	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]
rs73516894	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238200-68264800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68240000-68269800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:68240400-68262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:68240400-68262200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:68240800-68262200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:68241200-68259400	Weak transcription	Thymus	Thymus
8	chr11:68241200-68264800	Weak transcription	K562	blood
9	chr11:68242000-68266000	Weak transcription	Hela-S3	cervix
10	chr11:68245000-68264800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:68246800-68266600	Weak transcription	Fetal Thymus	thymus
12	chr11:68247000-68270800	Weak transcription	Dnd41	blood
13	chr11:68247400-68264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:68248800-68266000	Weak transcription	HSMM	muscle
15	chr11:68249000-68265400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:68249000-68270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:68249200-68262400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:68249400-68263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:68249400-68270800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:68249600-68259800	Weak transcription	Right Ventricle	heart
21	chr11:68249600-68262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:68249600-68262800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:68249600-68265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:68249600-68265800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:68251000-68262400	Weak transcription	HepG2	liver
26	chr11:68252000-68262600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:68252600-68260800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:68252800-68260600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:68252800-68260800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:68252800-68261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:68253000-68261200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:68253400-68260200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:68253400-68263200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:68253400-68265600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:68254000-68260800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:68254000-68260800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:68254000-68264800	Weak transcription	Fetal Intestine Small	intestine
38	chr11:68254000-68266000	Weak transcription	Fetal Stomach	stomach
39	chr11:68254400-68265800	Weak transcription	Fetal Intestine Large	intestine
40	chr11:68254800-68263000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:68255400-68260600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:68256200-68259800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:68256200-68260000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:68256200-68264800	Weak transcription	Lung	lung
45	chr11:68256200-68265000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:68256200-68265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:68256200-68265400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr11:68256400-68259600	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:68256400-68260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:68256400-68262000	Weak transcription	GM12878-XiMat	blood

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