Variant report

Variant	rs900234
Chromosome Location	chr3:100493062-100493063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100480581..100482605-chr3:100491620..100493476,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10755119	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1143774	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1143776	0.83[ASN][1000 genomes]
rs1144105	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1144106	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1144107	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1144108	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs1144122	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1144124	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1144125	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1144126	1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs1145348	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1145351	1.00[ASN][1000 genomes]
rs1165253	1.00[ASN][1000 genomes]
rs1165255	1.00[ASN][1000 genomes]
rs1165260	1.00[ASN][1000 genomes]
rs1165264	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1165534	1.00[ASN][1000 genomes]
rs11921801	1.00[CHB][hapmap]
rs11921907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12330853	1.00[YRI][hapmap]
rs1384198	0.83[CEU][hapmap]
rs1520652	1.00[ASN][1000 genomes]
rs1620897	1.00[ASN][1000 genomes]
rs1623413	1.00[ASN][1000 genomes]
rs1676339	1.00[ASN][1000 genomes]
rs1676343	1.00[CHB][hapmap]
rs1676345	1.00[ASN][1000 genomes]
rs1676346	1.00[ASN][1000 genomes]
rs1676349	1.00[ASN][1000 genomes]
rs1676366	1.00[ASN][1000 genomes]
rs1680520	1.00[ASN][1000 genomes]
rs1718272	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1718273	1.00[ASN][1000 genomes]
rs1718278	1.00[ASN][1000 genomes]
rs1718279	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs2126540	0.83[CEU][hapmap]
rs2461498	1.00[ASN][1000 genomes]
rs4088588	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4144968	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4928070	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4928087	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs560803	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586347	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs591728	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs603630	1.00[ASN][1000 genomes]
rs605300	1.00[ASN][1000 genomes]
rs610854	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs629091	1.00[ASN][1000 genomes]
rs6441383	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6441384	1.00[CHB][hapmap]
rs6441552	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs653002	1.00[ASN][1000 genomes]
rs670008	1.00[CHB][hapmap]
rs6767460	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6770559	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6779489	1.00[CHB][hapmap]
rs6788891	0.83[CEU][hapmap]
rs6789364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694612	1.00[ASN][1000 genomes]
rs7628455	0.82[YRI][hapmap]
rs7644599	1.00[ASN][1000 genomes]
rs905604	0.82[YRI][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs900234	TFG	cis	multi-tissue	Pritchard

Chromatin state (count:37 , 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	chr3:100469800-100498200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:100469800-100501400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:100470200-100498400	Weak transcription	Right Ventricle	heart
6	chr3:100471000-100495800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:100471600-100500400	Weak transcription	Lung	lung
8	chr3:100471800-100494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:100471800-100502000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:100472800-100494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:100473800-100496400	Weak transcription	Fetal Intestine Large	intestine
12	chr3:100474400-100494200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:100474400-100500200	Weak transcription	HSMM	muscle
14	chr3:100474400-100501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:100475000-100499000	Weak transcription	Placenta	Placenta
16	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:100478400-100496600	Weak transcription	Aorta	Aorta
18	chr3:100478800-100502000	Weak transcription	Psoas Muscle	Psoas
19	chr3:100480200-100493800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:100488600-100504600	Weak transcription	Adipose Nuclei	Adipose
21	chr3:100489000-100494400	Weak transcription	Fetal Lung	lung
22	chr3:100489600-100493200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:100489600-100494000	Weak transcription	Gastric	stomach
24	chr3:100489600-100500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:100489800-100494000	Weak transcription	Fetal Stomach	stomach
26	chr3:100489800-100495600	Weak transcription	Ovary	ovary
27	chr3:100489800-100504800	Weak transcription	Left Ventricle	heart
28	chr3:100490000-100494400	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:100491400-100494000	Strong transcription	Osteobl	bone
30	chr3:100492000-100493600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr3:100492200-100493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:100492400-100493200	Strong transcription	NHDF-Ad	bronchial
33	chr3:100492400-100501000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr3:100492800-100494600	Strong transcription	HSMMtube	muscle
35	chr3:100493000-100493400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:100493000-100497200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr3:100493000-100497200	Strong transcription	Fetal Muscle Leg	muscle

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