Variant report

Variant	rs6786148
Chromosome Location	chr3:134054045-134054046
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	chr3:134052518..134054585-chr3:134071720..134074558,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1111516	0.95[ASN][1000 genomes]
rs11708815	0.86[ASN][1000 genomes]
rs11719057	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12495847	0.80[ASN][1000 genomes]
rs13075185	0.86[ASN][1000 genomes]
rs13322269	0.80[ASN][1000 genomes]
rs1353776	0.90[ASN][1000 genomes]
rs1353777	0.80[ASN][1000 genomes]
rs1466827	0.91[ASN][1000 genomes]
rs1498731	0.95[ASN][1000 genomes]
rs1603824	0.95[ASN][1000 genomes]
rs1863910	0.80[ASN][1000 genomes]
rs2133307	0.95[ASN][1000 genomes]
rs2400278	0.95[ASN][1000 genomes]
rs2400279	0.95[ASN][1000 genomes]
rs2400280	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34341902	0.95[ASN][1000 genomes]
rs35951257	0.95[ASN][1000 genomes]
rs3732852	0.90[ASN][1000 genomes]
rs3773820	0.86[ASN][1000 genomes]
rs3821705	0.90[ASN][1000 genomes]
rs4264700	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974485	0.95[ASN][1000 genomes]
rs4974487	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974489	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974491	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974494	0.95[ASN][1000 genomes]
rs4974495	0.95[ASN][1000 genomes]
rs4974496	0.93[ASN][1000 genomes]
rs4974497	0.95[ASN][1000 genomes]
rs4974498	0.90[ASN][1000 genomes]
rs6439477	0.95[ASN][1000 genomes]
rs6439478	0.90[ASN][1000 genomes]
rs7613066	0.86[ASN][1000 genomes]
rs9450	0.95[ASN][1000 genomes]
rs9817900	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853621	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6786148	RP11-375I20.6	cis	Thyroid	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134035000-134058800	Weak transcription	Liver	Liver
2	chr3:134041200-134056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:134042000-134060800	Enhancers	Placenta	Placenta
4	chr3:134042600-134054400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:134042800-134057000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:134044000-134054400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:134045000-134056400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:134047600-134054200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:134048600-134054200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:134049000-134054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:134049000-134054200	Enhancers	Rectal Smooth Muscle	rectum
12	chr3:134049000-134054600	Enhancers	Fetal Muscle Leg	muscle
13	chr3:134049200-134060800	Enhancers	Fetal Intestine Large	intestine
14	chr3:134049400-134054200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:134049600-134054400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:134049600-134054400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:134049600-134054600	Enhancers	Fetal Stomach	stomach
18	chr3:134049600-134054600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr3:134049600-134054800	Enhancers	Lung	lung
20	chr3:134049800-134054200	Enhancers	Ovary	ovary
21	chr3:134049800-134054400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:134050200-134054400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:134050600-134056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:134050600-134057000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:134050600-134060400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:134050800-134054200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:134050800-134054800	Enhancers	Colon Smooth Muscle	Colon
28	chr3:134050800-134061000	Weak transcription	Fetal Brain Female	brain
29	chr3:134051000-134054200	Enhancers	HSMM	muscle
30	chr3:134051000-134055800	Enhancers	NHLF	lung
31	chr3:134051000-134056000	Enhancers	NHDF-Ad	bronchial
32	chr3:134051000-134056800	Enhancers	Osteobl	bone
33	chr3:134051200-134054200	Enhancers	HMEC	breast
34	chr3:134051200-134054800	Enhancers	HSMMtube	muscle
35	chr3:134051200-134056600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:134051400-134054200	Enhancers	NHEK	skin
37	chr3:134051400-134054600	Enhancers	A549	lung
38	chr3:134051400-134055200	Enhancers	Hela-S3	cervix
39	chr3:134051400-134056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:134051400-134056200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:134051400-134058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:134051400-134058800	Weak transcription	Fetal Kidney	kidney
43	chr3:134051800-134054200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:134052000-134054600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:134052000-134056000	Enhancers	Fetal Intestine Small	intestine
46	chr3:134052200-134054200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:134052200-134054400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:134052200-134054600	Enhancers	Left Ventricle	heart
49	chr3:134052200-134058600	Enhancers	Esophagus	oesophagus
50	chr3:134052400-134054200	Enhancers	Skeletal Muscle Female	skeletal muscle

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