Variant report

Variant	rs11680290
Chromosome Location	chr2:145169952-145169953
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145169565..145172459-chr2:145332592..145334739,2	K562	blood:
2	chr2:145169684..145172662-chr2:145275502..145277543,2	K562	blood:
3	chr2:145168398..145170194-chr2:145251175..145252860,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10928212	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683355	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904051	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16823675	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16823683	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35728039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3755090	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755091	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821064	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55755433	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145141400-145173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:145145800-145176000	Strong transcription	Primary hematopoietic stem cells	blood
4	chr2:145146200-145173200	Strong transcription	K562	blood
5	chr2:145147400-145170400	Weak transcription	Fetal Thymus	thymus
6	chr2:145156800-145170800	Weak transcription	Right Ventricle	heart
7	chr2:145157200-145184200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
9	chr2:145157800-145206200	Weak transcription	Lung	lung
10	chr2:145158200-145176000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
12	chr2:145158400-145170400	Weak transcription	Liver	Liver
13	chr2:145158400-145184400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:145159000-145193800	Weak transcription	Dnd41	blood
15	chr2:145160000-145184000	Weak transcription	HUVEC	blood vessel
16	chr2:145160200-145182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:145160600-145170000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:145160800-145170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:145161600-145183800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:145161800-145170000	Weak transcription	Hela-S3	cervix
21	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
22	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:145162600-145171800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:145162600-145171800	Weak transcription	Psoas Muscle	Psoas
25	chr2:145162600-145175000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:145162600-145176800	Weak transcription	Fetal Heart	heart
27	chr2:145162600-145178200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:145162600-145184200	Weak transcription	NH-A	brain
29	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
30	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:145162800-145170200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:145162800-145171000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:145162800-145171800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:145162800-145178000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:145164200-145171600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:145164400-145170000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:145164400-145170000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:145164400-145170000	Weak transcription	Osteobl	bone
39	chr2:145164400-145171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:145164400-145184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:145164400-145184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:145164600-145170200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:145164600-145170200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:145164600-145171000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:145164600-145171600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:145164600-145171800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:145164800-145173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:145165000-145170200	Strong transcription	Fetal Lung	lung
49	chr2:145165000-145170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:145165000-145171600	Weak transcription	Small Intestine	intestine

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