Variant report

Variant	rs1783575
Chromosome Location	chr11:72860038-72860039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72859452..72862258-chr11:73086862..73088918,3	MCF-7	breast:
2	chr11:72851898..72855285-chr11:72856949..72861916,10	MCF-7	breast:
3	chr11:72859228..72862613-chr11:72866065..72868868,5	K562	blood:
4	chr11:72851320..72855348-chr11:72855671..72860377,7	MCF-7	breast:
5	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
6	chr11:72855684..72857699-chr11:72858058..72860516,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12294037	0.91[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12419915	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2366256	0.81[AMR][1000 genomes]
rs3862796	0.93[GIH][hapmap]
rs4394861	0.87[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4400839	0.93[GIH][hapmap];0.83[TSI][hapmap]
rs4944823	0.89[ASN][1000 genomes]
rs593753	0.93[GIH][hapmap];0.84[MEX][hapmap]
rs6592505	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs6592509	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs6592510	0.93[ASW][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs7124723	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1783575	FOLR2	cis	cerebellum	SCAN
rs1783575	MYEOV	cis	parietal	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72854400-72871000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:72854600-72861200	Enhancers	Fetal Thymus	thymus
3	chr11:72854600-72864200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:72854600-72865600	Weak transcription	Small Intestine	intestine
5	chr11:72854600-72871400	Enhancers	Spleen	Spleen
6	chr11:72854800-72872200	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:72855000-72862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:72855000-72865600	Weak transcription	Adipose Nuclei	Adipose
9	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:72855200-72862600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:72855200-72863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:72855200-72863400	Weak transcription	Colonic Mucosa	Colon
13	chr11:72855200-72863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:72855200-72863800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:72855200-72863800	Weak transcription	Thymus	Thymus
16	chr11:72855200-72864000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:72855200-72865200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:72855400-72861200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:72855400-72862800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:72856000-72863600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:72857200-72860200	Enhancers	Left Ventricle	heart
25	chr11:72857200-72861200	Enhancers	Right Ventricle	heart
26	chr11:72857800-72869000	Enhancers	Primary B cells from cord blood	blood
27	chr11:72858000-72860400	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:72858000-72863800	Enhancers	HSMM	muscle
29	chr11:72858200-72860200	Enhancers	Brain Hippocampus Middle	brain
30	chr11:72858200-72860800	Weak transcription	Right Atrium	heart
31	chr11:72858400-72860200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:72858400-72860200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:72858400-72860400	Enhancers	Fetal Brain Female	brain
34	chr11:72858400-72860800	Enhancers	Colon Smooth Muscle	Colon
35	chr11:72858400-72861000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:72858600-72860600	Enhancers	Brain Germinal Matrix	brain
37	chr11:72858800-72860200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr11:72858800-72860600	Enhancers	Brain Anterior Caudate	brain
39	chr11:72858800-72860600	Enhancers	Fetal Brain Male	brain
40	chr11:72858800-72860600	Enhancers	Fetal Stomach	stomach
41	chr11:72858800-72860800	Weak transcription	Primary T cells from cord blood	blood
42	chr11:72858800-72860800	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:72858800-72861000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:72859000-72861200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:72859000-72861200	Weak transcription	Ovary	ovary
46	chr11:72859200-72860200	Flanking Active TSS	HSMMtube	muscle
47	chr11:72859200-72863800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:72859400-72860200	Flanking Active TSS	Fetal Heart	heart
49	chr11:72859400-72861400	Weak transcription	HMEC	breast
50	chr11:72859400-72862800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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