Variant report

Variant	rs12419525
Chromosome Location	chr11:9631720-9631721
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9592516..9595716-chr11:9630032..9632602,3	K562	blood:
2	chr11:9628381..9630279-chr11:9630483..9632846,2	K562	blood:
3	chr11:9628848..9631872-chr11:9634232..9636277,3	MCF-7	breast:
4	chr11:9604635..9607284-chr11:9630856..9632467,2	K562	blood:
5	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:

Variant related genes	Relation type
ENSG00000166483	Chromatin interaction
ENSG00000238387	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10770043	0.91[ASN][1000 genomes]
rs10770047	0.96[ASN][1000 genomes]
rs10840269	0.91[ASN][1000 genomes]
rs10840270	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840271	0.96[ASN][1000 genomes]
rs12420438	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289074	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57701122	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12419525	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
2	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
3	chr11:9623400-9634600	Weak transcription	Thymus	Thymus
4	chr11:9623600-9633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:9623600-9634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:9623600-9634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:9623600-9634800	Weak transcription	Esophagus	oesophagus
8	chr11:9623600-9635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:9624200-9634800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9624400-9634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:9624400-9634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9624400-9635000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:9626600-9632400	Weak transcription	Dnd41	blood
14	chr11:9628800-9634000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:9628800-9634400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:9628800-9634800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:9629000-9634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:9629200-9631800	Weak transcription	K562	blood
19	chr11:9629200-9633800	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:9629200-9633800	Weak transcription	Fetal Intestine Small	intestine
21	chr11:9629200-9634800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:9629400-9634400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:9629400-9634400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:9629400-9634400	Enhancers	HepG2	liver
25	chr11:9629400-9634800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:9629600-9632600	Weak transcription	A549	lung
27	chr11:9629600-9634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:9630000-9632600	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:9630200-9634400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:9630200-9634600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:9630200-9635000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:9630400-9631800	Enhancers	GM12878-XiMat	blood
33	chr11:9630600-9634400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:9631000-9634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:9631400-9632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:9631400-9632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:9631400-9633200	Weak transcription	Primary B cells from cord blood	blood
38	chr11:9631600-9631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:9631600-9631800	Enhancers	Placenta	Placenta
40	chr11:9631600-9632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:9631600-9632000	Enhancers	HMEC	breast
42	chr11:9631600-9632000	Enhancers	NHEK	skin

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