Variant report

Variant	rs3769529
Chromosome Location	chr2:33474713-33474714
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr2:33474602-33474784	GM12878	blood:	n/a	n/a
2	STAT3	chr2:33474637-33474837	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33470293..33473165-chr2:33474172..33476840,3	K562	blood:

Variant related genes	Relation type
LTBP1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10495788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685108	0.86[CHD][hapmap]
rs17012917	1.00[MEX][hapmap]
rs3754830	0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs3769528	0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769534	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769547	0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs3820912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59246149	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6708335	0.90[JPT][hapmap]

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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
6	chr2:33467800-33475600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:33468200-33475800	Weak transcription	Ovary	ovary
8	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:33468600-33475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:33468600-33475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:33468600-33477000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:33468800-33475400	Weak transcription	NHLF	lung
13	chr2:33469200-33475600	Weak transcription	Fetal Stomach	stomach
14	chr2:33469800-33475800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:33469800-33476000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
17	chr2:33470400-33479400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:33471200-33480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:33471400-33475600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
21	chr2:33472000-33475200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:33472000-33475800	Weak transcription	Left Ventricle	heart
23	chr2:33472000-33478000	Weak transcription	Liver	Liver
24	chr2:33472000-33489800	Weak transcription	A549	lung
25	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
27	chr2:33472200-33475600	Weak transcription	Aorta	Aorta
28	chr2:33472200-33476000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:33472400-33475600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33472400-33476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:33473200-33477200	Weak transcription	NH-A	brain
34	chr2:33473200-33486600	Weak transcription	Fetal Lung	lung
35	chr2:33473600-33474800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:33473600-33489800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:33473800-33484000	Strong transcription	Osteobl	bone
38	chr2:33474000-33475000	Enhancers	Fetal Heart	heart
39	chr2:33474000-33475600	Weak transcription	Gastric	stomach
40	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:33474400-33478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:33474400-33489800	Weak transcription	Placenta	Placenta
44	chr2:33474400-33490000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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