Variant report

Variant	rs34948728
Chromosome Location	chr12:56924447-56924448
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56920527..56922162-chr12:56923065..56925052,2	K562	blood:
2	chr12:56916433..56918956-chr12:56923495..56926214,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10735863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876897	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10876899	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876902	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11171884	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11171885	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11171887	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11614642	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12814413	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1965307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34900037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782235	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4759247	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581097	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581098	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7132918	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132965	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136456	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299115	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299656	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7299660	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303549	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7303717	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7305759	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7313637	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313983	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314300	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975238	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34948728	RBMS2	cis	Whole Blood	GTEx
rs34948728	RBMS2	cis	multi-tissue	Pritchard
rs34948728	FUT1	Cis_1M	lymphoblastoid	RTeQTL
rs34948728	RBMS2	Cis_1M	lymphoblastoid	RTeQTL
rs34948728	RBMS2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56916800-56930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:56917000-56958000	Weak transcription	Ovary	ovary
3	chr12:56917200-56956200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:56917400-56924600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:56917400-56931400	Weak transcription	Right Ventricle	heart
7	chr12:56918600-56930000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:56919400-56929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:56920600-56924800	Enhancers	Placenta	Placenta
10	chr12:56921200-56930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:56921400-56933400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:56921400-56956200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:56922000-56924600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:56922000-56924800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:56922000-56933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:56922000-56935400	Weak transcription	Fetal Lung	lung
17	chr12:56922200-56928800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:56922400-56925000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:56922400-56956200	Weak transcription	HSMM	muscle
20	chr12:56922400-56959200	Weak transcription	Fetal Kidney	kidney
21	chr12:56922800-56924600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:56922800-56925000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:56923000-56924800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:56923200-56924800	Enhancers	NHDF-Ad	bronchial
25	chr12:56923200-56949200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:56923400-56924600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:56923400-56926600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:56923400-56926800	Weak transcription	Fetal Stomach	stomach
29	chr12:56923400-56926800	Weak transcription	Left Ventricle	heart
30	chr12:56923400-56929600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:56923400-56931200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:56923600-56930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:56923600-56931200	Weak transcription	Osteobl	bone
34	chr12:56923600-56933000	Weak transcription	NHEK	skin
35	chr12:56923800-56925200	Enhancers	Hela-S3	cervix
36	chr12:56923800-56926800	Weak transcription	Lung	lung
37	chr12:56923800-56928400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:56923800-56930800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:56923800-56931000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:56923800-56931000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:56923800-56938800	Weak transcription	HMEC	breast
42	chr12:56923800-56959400	Weak transcription	Aorta	Aorta
43	chr12:56924000-56926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:56924000-56930400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:56924200-56924800	Enhancers	HUVEC	blood vessel
46	chr12:56924200-56925600	Enhancers	Right Atrium	heart
47	chr12:56924200-56930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:56924400-56924600	Flanking Active TSS	NHLF	lung
49	chr12:56924400-56924800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:56924400-56924800	Enhancers	Adipose Nuclei	Adipose

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