Variant report

Variant	rs531260
Chromosome Location	chr11:120050515-120050516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120043099..120045650-chr11:120048774..120051644,2	K562	blood:
2	chr11:120045369..120049048-chr11:120049155..120051073,3	K562	blood:
3	chr11:120049376..120051724-chr11:120052135..120053974,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1790476	0.90[EUR][1000 genomes]
rs2444240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs470370	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs470373	0.95[ASN][1000 genomes]
rs470411	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs470645	1.00[JPT][hapmap]
rs470725	0.80[EUR][1000 genomes]
rs470876	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs470941	0.87[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs471001	0.85[ASN][1000 genomes]
rs488672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938790	0.92[ASN][1000 genomes]
rs521556	0.97[ASN][1000 genomes]
rs528147	0.94[ASN][1000 genomes]
rs529657	0.97[ASN][1000 genomes]
rs529681	0.94[ASN][1000 genomes]
rs533636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs550164	0.86[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs561498	0.82[CEU][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs566935	0.82[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs573211	1.00[ASN][1000 genomes]
rs605374	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs670855	0.86[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs896691	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs531260	TRIM29	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120043600-120051000	Weak transcription	HepG2	liver
2	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
3	chr11:120044400-120055200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:120044600-120051400	Weak transcription	Fetal Kidney	kidney
5	chr11:120044600-120051800	Weak transcription	Pancreas	Pancrea
6	chr11:120045000-120051200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:120046200-120053000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:120046400-120051000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:120046400-120051600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:120046800-120055800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:120048200-120055600	Enhancers	Fetal Stomach	stomach
12	chr11:120048400-120051000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:120048400-120051600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:120048600-120051200	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:120048600-120051600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:120049000-120051600	Enhancers	Fetal Lung	lung
17	chr11:120049000-120052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:120049000-120052200	Enhancers	Fetal Muscle Leg	muscle
19	chr11:120049000-120055200	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:120049200-120050600	Enhancers	Stomach Smooth Muscle	stomach
21	chr11:120049200-120054400	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:120049400-120051200	Weak transcription	HUVEC	blood vessel
23	chr11:120049400-120051400	Enhancers	Osteobl	bone
24	chr11:120049400-120051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:120049400-120054800	Enhancers	Brain Anterior Caudate	brain
26	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:120049600-120051200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:120049600-120053000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:120049600-120053800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
31	chr11:120049800-120050600	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:120049800-120051000	Weak transcription	Small Intestine	intestine
33	chr11:120049800-120051200	Weak transcription	NH-A	brain
34	chr11:120049800-120051400	Weak transcription	NHDF-Ad	bronchial
35	chr11:120049800-120051400	Weak transcription	NHLF	lung
36	chr11:120049800-120052800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:120049800-120053200	Weak transcription	Stomach Mucosa	stomach
38	chr11:120049800-120054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:120049800-120054200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:120050000-120051200	Weak transcription	Colonic Mucosa	Colon
41	chr11:120050000-120052400	Weak transcription	Ovary	ovary
42	chr11:120050000-120053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:120050000-120053800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:120050200-120050600	Enhancers	Brain Angular Gyrus	brain
45	chr11:120050200-120051000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:120050200-120051400	Weak transcription	Right Atrium	heart
47	chr11:120050400-120050600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:120050400-120050600	Enhancers	Liver	Liver
49	chr11:120050400-120051000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:120050400-120051200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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