Variant report

Variant	rs10769123
Chromosome Location	chr11:45193779-45193780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
2	chr11:45193686..45196052-chr11:45198891..45200886,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10444286	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10838428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038339	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038341	0.82[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038350	0.84[AMR][1000 genomes]
rs11038357	0.82[ASW][hapmap];1.00[CHB][hapmap]
rs11601021	0.83[MEX][hapmap]
rs12292233	1.00[YRI][hapmap]
rs17723470	0.82[ASW][hapmap];1.00[CHB][hapmap]
rs3758723	1.00[CHB][hapmap]
rs3886790	0.89[CEU][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646648	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907072	0.86[AFR][1000 genomes]
rs7940871	1.00[CHB][hapmap]

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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10769123	ACP2	cis	parietal	SCAN
rs10769123	PRDM11	cis	Thyroid	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45183600-45200400	Weak transcription	Esophagus	oesophagus
2	chr11:45183800-45201200	Weak transcription	Gastric	stomach
3	chr11:45186400-45201200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:45186600-45201400	Weak transcription	Fetal Brain Female	brain
5	chr11:45186800-45200600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:45190600-45198400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:45191200-45199000	Weak transcription	Fetal Stomach	stomach
8	chr11:45191400-45195600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:45191600-45198400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:45191800-45198600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:45192200-45194400	Weak transcription	HepG2	liver
12	chr11:45192200-45198000	Weak transcription	Pancreas	Pancrea
13	chr11:45192200-45198400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:45192400-45198400	Weak transcription	Ovary	ovary
15	chr11:45192400-45198400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:45192400-45198600	Weak transcription	Right Ventricle	heart
17	chr11:45192400-45200400	Weak transcription	Lung	lung
18	chr11:45192400-45201200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:45192600-45198800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:45193200-45194400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:45193200-45199800	Weak transcription	Spleen	Spleen
22	chr11:45193400-45193800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:45193400-45194400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:45193400-45194600	Enhancers	Fetal Intestine Small	intestine
25	chr11:45193400-45198400	Weak transcription	Right Atrium	heart
26	chr11:45193400-45200400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:45193400-45200400	Weak transcription	Left Ventricle	heart
28	chr11:45193600-45196800	Enhancers	Fetal Intestine Large	intestine

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