Variant report

Variant	rs547330
Chromosome Location	chr3:100485785-100485786
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	chr3:100477781..100481491-chr3:100485242..100489259,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1048364	0.83[JPT][hapmap]
rs11716316	1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs12496951	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs13078643	0.83[JPT][hapmap]
rs1503839	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1503845	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1520649	0.83[JPT][hapmap]
rs1553455	0.83[JPT][hapmap]
rs16842822	0.83[CHB][hapmap]
rs16842845	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1847391	0.96[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1994085	0.80[JPT][hapmap]
rs2055543	0.83[JPT][hapmap]
rs2293030	0.83[JPT][hapmap]
rs34281646	0.89[ASN][1000 genomes]
rs35734168	0.95[ASN][1000 genomes]
rs3736534	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3773921	0.83[JPT][hapmap]
rs3862285	0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4616685	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4928083	0.83[JPT][hapmap]
rs4928085	0.86[JPT][hapmap]
rs4928086	0.83[JPT][hapmap]
rs544500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58758917	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754462	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs7612334	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs764684	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs900233	0.80[JPT][hapmap]
rs9824346	0.96[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9850273	0.83[CHB][hapmap]
rs989793	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs989794	0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs989795	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[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	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs547330	TFG	cis	multi-tissue	Pritchard
rs547330	TFG	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100450000-100501000	Weak transcription	Esophagus	oesophagus
2	chr3:100467400-100497600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:100468200-100488600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:100469800-100498200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:100469800-100501400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:100470200-100498400	Weak transcription	Right Ventricle	heart
7	chr3:100471000-100495800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:100471600-100500400	Weak transcription	Lung	lung
9	chr3:100471800-100486200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:100471800-100494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:100471800-100502000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:100472800-100494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:100473400-100488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:100473600-100488600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:100473600-100488800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:100473600-100489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:100473800-100496400	Weak transcription	Fetal Intestine Large	intestine
18	chr3:100474000-100488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:100474400-100494200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:100474400-100500200	Weak transcription	HSMM	muscle
21	chr3:100474400-100501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:100475000-100488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:100475000-100499000	Weak transcription	Placenta	Placenta
24	chr3:100475600-100487600	Weak transcription	NHDF-Ad	bronchial
25	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:100478400-100496600	Weak transcription	Aorta	Aorta
27	chr3:100478800-100502000	Weak transcription	Psoas Muscle	Psoas
28	chr3:100479000-100488600	Weak transcription	Fetal Stomach	stomach
29	chr3:100479400-100488000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:100479400-100493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:100479800-100488600	Weak transcription	Fetal Lung	lung
32	chr3:100480200-100493800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:100480400-100488400	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:100480400-100488600	Weak transcription	Ovary	ovary
35	chr3:100483400-100487600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:100485200-100487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:100485200-100488600	Weak transcription	HSMMtube	muscle
38	chr3:100485600-100486000	Strong transcription	Left Ventricle	heart
39	chr3:100485600-100487400	Weak transcription	Osteobl	bone

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