Variant report

Variant	rs875624
Chromosome Location	chr2:11621642-11621643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11621457..11624787-chr2:11753040..11757547,4	MCF-7	breast:
2	chr2:11263419..11265242-chr2:11621241..11623957,2	MCF-7	breast:
3	chr2:11373517..11376626-chr2:11621500..11624054,4	MCF-7	breast:
4	chr2:11620780..11623645-chr2:11748441..11751021,2	MCF-7	breast:
5	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
6	chr2:11260073..11263283-chr2:11621139..11624937,6	MCF-7	breast:
7	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:
8	chr17:77905046..77907139-chr2:11621088..11623747,2	MCF-7	breast:
9	chr2:11621397..11624240-chr2:11808602..11811433,2	MCF-7	breast:
10	chr17:59486452..59489829-chr2:11621116..11624500,4	MCF-7	breast:
11	chr2:11620802..11622693-chr2:11801885..11804962,3	MCF-7	breast:
12	chr17:57922980..57925938-chr2:11621191..11623045,2	MCF-7	breast:
13	chr2:11620752..11623461-chr7:108208476..108211188,2	MCF-7	breast:
14	chr2:10968173..10970876-chr2:11621344..11624039,2	MCF-7	breast:
15	chr2:11295276..11298034-chr2:11619894..11623397,3	MCF-7	breast:
16	chr2:11621442..11624193-chr6:27859669..27862456,2	MCF-7	breast:
17	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
18	chr2:11619432..11626810-chr2:11815160..11825829,15	MCF-7	breast:
19	chr2:11620928..11624804-chr20:45948428..45951214,3	MCF-7	breast:
20	chr2:11620854..11623036-chr5:41911701..41913647,2	MCF-7	breast:
21	chr2:11272161..11273870-chr2:11621396..11624363,2	MCF-7	breast:
22	chr2:11619575..11623223-chr2:11785570..11788850,5	MCF-7	breast:
23	chr2:11572499..11575442-chr2:11621165..11623225,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228496	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000207267	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000169006	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000187013	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10195636	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1109098	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11675074	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893713	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11903099	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3893103	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669730	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669731	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61138273	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7565580	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7587139	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7590419	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601812	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11607200-11622400	Weak transcription	Spleen	Spleen
2	chr2:11618200-11622400	Enhancers	HepG2	liver
3	chr2:11618400-11622400	Weak transcription	Psoas Muscle	Psoas
4	chr2:11618600-11621800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:11618600-11622200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:11619200-11622400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11620400-11622800	Enhancers	Fetal Lung	lung
8	chr2:11620800-11621800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:11621000-11622000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11621000-11622400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:11621200-11622000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11621200-11622200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11621200-11622600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:11621400-11621800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr2:11621400-11622000	Flanking Active TSS	Ovary	ovary
16	chr2:11621400-11622200	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:11621400-11622400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:11621400-11622400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr2:11621400-11623200	Bivalent Enhancer	Placenta	Placenta
20	chr2:11621400-11623400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr2:11621600-11621800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr2:11621600-11622200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr2:11621600-11622200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:11621600-11624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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